Name Abbreviation Constituents External link(s)
INTERMEDIARY METABOLISM: NUTRIENTS
1        Disorders of amino acid metabolism
1.1        Urea cycle disorders and inherited hyperammonemias
Carbamoyl phosphate synthetase 1 deficiency CPS1 deficiency
Ornithine transcarbamylase deficiency OTC deficiency
Citrullinemia
Citrullinemia type 1 ASS1 deficiency
Citrullinemia type 1, late onset
Argininosuccinate lyase deficiency ASL deficiency
Argininemia ARG1 deficiency
Mitochondrial ornithine transporter deficiency HHH syndrome
N-acetylglutamate synthase deficiency NAGS deficiency
Carbonic anhydrase VA deficiency CA5A deficiency
Citrin deficiency
SLC25A13-related neonatal intrahepatic cholestasis
1.2        Organic acidurias
Isovaleric aciduria IVA
Propionic aciduria PA
PCCA-related propionic aciduria
PCCB-related propionic aciduria
Methylmalonic aciduria MMA
Methylmalonic aciduria, classical MMUT-MMA
MMUT-related methylmalonic aciduria mut0
MMUT-related methylmalonic aciduria mut-
MCEE-related methylmalonic aciduria MCEE-MMA
3-Methylcrotonyl-CoA carboxylase deficiency MCCC deficiency
MCCC1-related 3-Methylcrotonyl-CoA carboxylase deficiency
MCCC2-related 3-Methylcrotonyl-CoA carboxylase deficiency
Methylglutaconic aciduria MGA
3-methylglutaconic aciduria type 1 MGA1
Glutaric aciduria GA
Ethylmalonic aciduria EMA
2-Hydroxyglutaric aciduria 2HGA
D-2-hydroxyglutaric aciduria
ECHS1 deficiency ECHS1 deficiency
3-hydroxyisobutyryl-CoA hydrolase deficiency HIBCH deficiency
3-hydroxyisobutyrate dehydrogenase deficiency HIBADH deficiency
Organic acidurias of uncertain clinical relevance
Isobutyryl-CoA dehydrogenase deficiency ACAD8 deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency ACADSB deficiency
Methylmalonate semialdehyde dehydrogenase deficiency ALDH6A1 deficiency
1.3        Disorders of branched-chain amino acid metabolism
Branched-chain aminotransferase 2 deficiency BCAT2 deficiency
Maple syrup urine disease MSUD
Maple syrup urine disease, classic
Maple syrup urine disease, intermediate
Maple syrup urine disease, intermittent
Maple syrup urine disease, thiamine-responsive
BCKDHA-related maple syrup urine disease MSUD type 1a
BCKDHB-related maple syrup urine disease MSUD type 1b
DBT-related maple syrup urine disease MSUD type 2
Branched-chain ketoacid dehydrogenase phosphatase deficiency BCKDP deficiency
Branched-chain ketoacid dehydrogenase kinase deficiency BCKDK deficiency
1.4        Disorders of phenylalanine and tyrosine metabolism
Phenylalanine hydroxylase deficiency PAH deficiency
Phenylketonuria PKU
Phenylketonuria, classical severe cPKU
Phenylketonuria, mild mPKU
Phenylketonuria, BH4-responsive
Mild Hyperphenylalaninaemia MHP
Maternal PKU syndrome mPKU
Tyrosinemia type 2
HPD-related disease
Tyrosinemia type 3
Hawkinsinuria
Alkaptonuria
Maleylacetoacetate isomerase deficiency
Tyrosinemia type 1
Tyrosinase deficiency
Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1B
Minimal pigment oculocutaneous albinism type 1
Temperature-sensitive oculocutaneous albinism type 1
Waardenburg syndrome type 2
1.5        Disorders of the metabolism of sulfur-containing amino acids
Methionine adenosyltransferase I/III deficiency MAT1A deficiency
Methionine adenosyltransferase II deficiency MAT2A deficiency
Glycine N-methyltransferase deficiency GNMT deficiency
S-Adenosylhomocysteine hydrolase deficiency
Methionine synthase deficiency cblG disease
Homocystinuria
Homocystinuria, classical CBS deficiency
Cystathioninuria
1.6        Disorders of glycine and serine metabolism
Nonketotic hyperglycinemia NKH
Nonketotic hyperglycinemia, atypical
Nonketotic hyperglycinemia, infantile
Nonketotic hyperglycinemia, neonatal
GLDC-related nonketotic hyperglycinemia
AMT-related nonketotic hyperglycinemia
GCSH-related nonketotic hyperglycinemia
Neu-Laxova syndrome
3-Phosphoglycerate dehydrogenase deficiency PHGDH deficiency
3-Phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
PHGDH-related Neu-Laxova syndrome
Phosphoserine aminotransferase deficiency PSAT1 deficiency
Phosphoserine aminotransferase deficiency, infantile/juvenile form
PSAT1-related Neu-Laxova syndrome
Phosphoserine phosphatase deficiency PSPH deficiency
Phosphoserine phosphatase deficiency, infantile/juvenile form
PSPH-related Neu-Laxova syndrome
Glutaric aciduria type 3 GA3
Mitochondrial serine hydroxymethyltransferase deficiency SHMT2 deficiency
1.7        Disorders of ornithine, proline and hydroxyproline metabolism
Ornithine aminotransferase deficiency OAT deficiency
De Barsy syndrome
ALDH18A1-related disease P5CS deficiency
P5CS-related De Barsy syndrome
P5CS deficiency, cutis laxa phenotype
P5CS deficiency, spastic paraplegia phenotype
P5CS deficiency, spastic paraplegia type 9A
P5CS deficiency, spastic paraplegia type 9B dominant
P5CS deficiency, spastic paraplegia type 9B recessive
Pyrroline-5-carboxylate reductase 1 deficiency PYCR1 deficiency
PYCR1 deficiency, cutis laxa phenotype
PYCR1-related De Barsy syndrome
Pyrroline-5-carboxylate reductase 2 deficiency PYCR2 deficiency
Hyperprolinemia
Proline dehydrogenase deficiency PRODH deficiency
Pyrroline-5-carboxylate dehydrogenase deficiency ALDH4A1 deficiency
Hydroxyprolinemia
Primary hyperoxaluria type 3
1.8        Disorders of lysine, hydroxylysine, and tryptophan metabolism
Hyperlysinemia, familial AASS deficiency
Saccharopinuria
Antiquitin deficiency
2-Aminoadipic 2-oxoadipic aciduria OADC deficiency;
Charcot-Marie-Tooth disease type 2Q (unconfirmed)
Glutaric aciduria type 1 GA1
Phosphohydroxylysinuria
Hypertryptophanemia
Kynureninase deficiency
3-hydroxyanthranilic acid 3,4-dioxygenase deficiency
Kynurenine-3-hydroxylase deficiency
1.9        Disorders of glutamate/glutamine and aspartate/asparagine metabolism
Glutamate pyruvate transaminase 2 deficiency GPT2 deficiency
Glutamate decarboxylase 1 deficiency GAD1 deficiency
GLUD1-related disease
Glutamate dehydrogenase superactivity GDH superactivity
GLUL-related disease
Glutamine synthetase deficiency
Glutamine synthetase degron dysregulation syndrome
GLS-related disease
Glutaminase deficiency
GLS-related epileptic encephalopathy
GLS-related spastic ataxia-dysarthria
Glutaminase superactivity
Asparagine synthetase deficiency
Aspartate N-acetyltransferase deficiency
Aspartoacylase deficiency
Aspartoacylase deficiency, severe form
Aspartoacylase deficiency, attenuated form
1.10    Disorders of histidine metabolism
Histidine ammonia-lyase deficiency HAL deficiency
Urocanase deficiency
1.11    Disorders of amino acid transport
Iminoglycinuria
Hartnup disease
Proton-coupled amino acid transporter 2 deficiency
Hyperglycinuria
Proline imino transporter-asssociated disease
Cystinuria
Cystinuria type A
Hypotonia-cystinuria syndrome
Hypotonia-cystinuria syndrome, atypical
Cystinuria type B
Lysinuric protein intolerance
Glutamate aspartate transporter deficiency EAAT1 deficiency
Astroglial glutamate aspartate transporter deficiency EAAT2 deficiency
Dicarboxylic aminoaciduria
Hot water reflex epilepsy
Large neutral amino acid transporter deficiency
Sodium-coupled neutral amino acid transporter 3 deficiency
Neuronal system A amino acid transporter deficiency
Vesicular neutral amino acid transporter 3 deficiency
Cystinosis
Lysosomal cationic amino acid transporter deficiency RP68
Cationic amino acid transporter 2 deficiency
Cationic amino acid transporter 3 deficiency
GABA transporter deficiency
Taurine transporter deficiency
ASCT1 transporter deficiency
Dibasic aminoaciduria type 1
Blue diaper syndrome
Lysine malabsorption syndrome
Histidinuria
Methionine malabsorption syndrome
1.12    Disorders of amino acid modifications
Sarcosinemia
Aminoacylase 1 deficiency
1.13    Disorders of methylamine metabolism
Choline transporter deficiency
Choline transporter-like protein 1 deficiency
Trimethylaminuria TMAuria
Dimethylglycinuria
2         Disorders of peptide and polyamine metabolism
2.1        Disorders of glutathione metabolism
Gamma-glutamylcysteine synthetase deficiency
Glutathione synthetase deficiency GSS deficiency
Glutathione synthetase deficiency with 5-oxoprolinuria
Glutathione synthetase deficiency without 5-oxoprolinuria
Gamma-glutamyl transpeptidase deficiency GGT deficiency
Cysteinylglycinuria
5-Oxoprolinase deficiency
Glutathione reductase deficiency
Glutathione peroxidase 4 deficiency
Immunodeficiency, developmental delay, and hypohomocysteinemia disease IMDDHH disease
2.2        Other disorders of peptide metabolism
Prolidase deficiency
 X-prolyl aminopeptidase 3 deficiency
Carnosinemia
Homocarnosinosis
2.3        Disorders of polyamine metabolism
ODC1 disease
Spermine synthase deficiency
SAT1-related disease
SAT1 deficiency
SAT1 superactivity
Methylthioadenosine phosphorylase deficiency
Diaminopentanuria
Polyamine transporter deficiency
3         Disorders of carbohydrate metabolism
3.1        Disorders of galactose and fructose metabolism
Galactosemia
Galactosemia, classical GALT deficiency
Galactose epimerase deficiency
Galactose epimerase deficiency, generalized
Galactose epimerase deficiency, erythrocyte-restricted
Galactokinase deficiency 
Galactose mutarotase deficiency
Essential fructosuria
Hereditary fructose intolerance HFI
Triokinase/FMN cyclase deficiency
D-Glyceric aciduria
Sorbitol dehydrogenase deficiency
3.2        Disorders of gluconeogenesis
Fructose-1,6-bisphosphatase deficiency FBP1 deficiency
Fructose-1,6-bisphosphatase 2 deficiency FBP2 deficiency
Pyruvate carboxylase deficiency PC deficiency
Pyruvate carboxylase deficiency, severe neonatal type
Pyruvate carboxylase deficiency, infantile type
Pyruvate carboxylase deficiency, benign type
Cytosolic phosphoenolpyruvate carboxykinase deficiency PEPCK deficiency
Mitochondrial phosphoenolpyruvate carboxykinase deficiency PEPCK2 deficiency
Glycerol kinase deficiency GK deficiency
Glycerol kinase deficiency, juvenile form
Glycerol kinase deficiency, adult form
Glycerol intolerance
3.3        Disorders of glycolysis
HK1-related disease
HK1-related hemolytic anemia
Hereditary motor and sensory neuropathy, Russe type CMT4G
HK1-related retionopathy RP79
HK1-related neurodevelopmental disorder NEDVIBA
GCK-related disease
GCK-related maturity-onset diabetes of the young MODY type 2
GCK-related neonatal diabetes
GCK-related hyperinsulinism
Glucose-6-phosphate isomerase deficiency
Aldolase A deficiency GSD12
Triose phosphate isomerase deficiency
Phosphoglycerate kinase deficiency
Bisphosphoglycerate mutase deficiency
Pyruvate kinase deficiency
Lactate-dehydrogenase-asssociated disease
Lactate dehydrogenase B deficiency
D-lactic aciduria with susceptibility to gout
3.4        Disorders of glycogen metabolism
3.4.1 Hepatic glycogenoses
Glycogen storage disease type 1 Glycogen storage disease type 2
Glycogen storage disease type 1a GSD1a
Glycogen storage disease type 1b GSD1b
Glycogen storage disease type 6 GSD6
Glycogen storage disease type 9 GSD9
Glycogen storage disease type 9a GSD9a
Glycogen storage disease type 9c GSD9c
Hepatic glycogen synthase deficiency GSD0
Liver glycogenin 2 deficiency GYG2 deficiency
3.4.2 Mixed/generalized glycogenoses
Glycogen storage disease type 3 GSD3
Glycogen storage disease type 4 GSD4
Glycogen storage disease type 4, congenital neuromuscular form
Glycogen storage disease type 4, fatal perinatal neuromuscular form
Glycogen storage disease type 4, childhood combined hepatic and myopathic form
Glycogen storage disease type 4, childhood neuromuscular form
Glycogen storage disease type 4, progressive hepatic form
Glycogen storage disease type 4, non-progressive hepatic form
Glycogen storage disease type 4, adult neuromuscular form
Adult polyglucosan body disease
Glycogen storage disease type 9b GSD9b
3.4.3 Muscle glycogenoses
Glycogen storage disease type 5 GSD5
Glycogen storage disease type 7 GSD7
Glycogen storage disease type 9d GSD9d
Glycogen storage disease type 10 GSD10
Glycogen storage disease type 11 GSD11
Glycogen storage disease type 13 GSD13
Cardiac phosphorylase kinase deficiency
3.4.4 Polyglucosan storage disorders
Muscle glycogen synthase deficiency GSD0b
Muscle glycogenin 1 deficiency
HOIL1 deficiency
HOIL1 interacting protein deficiency
Lafora disease
EPM2A-related Lafora disease
NHLRC1-related Lafora disease
3.5        Disorders of pentose phosphate metabolism
Glucose-6-phosphate dehydrogenase deficiency G6PD deficiency
Ribose 5-phosphate isomerase deficiency
Transaldolase deficiency TALDO1 deficiency
Transketolase deficiency
Sedoheptulose kinase deficiency
L-xylulose reductase deficiency
L-arabinosuria
3.6        Disorders of carbohydrate transmembrane transport and absorption
Glucose transporter 1 deficiency GLUT1 deficiency
SLC2A1-related Epilepsy with myoclonic absences
SLC2A1-related cryohydrocytosis with reduced stomatin
SLC2A1-related paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Neuronal glucose transporter deficiency
Fanconi-Bickel syndrome GLUT2 deficiency
Glucose-galactose malabsorption
Familial renal glucosuria
Familial renal glucosuria type 1
Familial renal glucosuria type 2
Congenital sucrase-isomaltase deficiency
Trehalase deficiency
Congenital lactose intolerance
Sialin deficiency
Infantile sialic acid storage disease
Salla disease
Salla disease, intermediate severe
3.7        Other disorders of carbohydrate metabolism
Phosphoglucomutase 2-like 1 deficiency
4         Disorders of carnitine, mitochondrial fatty acid and ketone body metabolism
4.1        Disorders of carnitine metabolism
Primary carnitine deficiency SLC22A5 deficiency
Carnitine palmitoyltransferase 1A deficiency CPT1 deficiency
Autosomal dominant spastic paraplegia type 73
Carnitine palmitoyltransferase 2 deficiency CPT2 deficiency
Carnitine palmitoyl transferase 2 deficiency, neonatal form
Carnitine palmitoyl transferase 2 deficiency, severe infantile form
Carnitine palmitoyl transferase 2 deficiency, myopathic form
Carnitine-acylcarnitine translocase deficiency CAT deficiency
Epsilon-N-trimethyllysine hydroxylase deficiency
Gamma-butyrobetaine hydroxylase deficiency
Carnitine acetyltransferase deficiency
4.2        Disorders of mitochondrial fatty acid oxidation
Very long-chain acyl-CoA dehydrogenase deficiency LCAD deficiency
Mitochondrial trifunctional protein deficiency MTP deficiency
HADHA-related MTP deficiency
Long-chain hydroxyacyl-CoA dehydrogenase deficiency LCHAD deficiency
HADHB-related MTP deficiency
Long-chain ketoacyl-CoA thiolase deficiency LCKAT deficiency
Medium-chain acyl-CoA dehydrogenase deficiency MCAD deficiency
Medium-chain 3-ketoacyl-CoA thiolase deficiency MCKAT deficiency
Short-chain acyl-CoA dehydrogenase deficiency ACADS deficiency
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency SCAD deficiency
Multiple acyl-CoA dehydrogenase deficiency GA2
Multiple acyl-CoA dehydrogenase deficiency, mild type
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
ETFA-related MAD deficiency GA2A
ETFB-related MAD deficiency GA2B
ETFDH-related MAD deficiency GA2C
Long-chain fatty acid plasma membrane transporter deficiency
4.3        Disorders of ketone body metabolism
mHMG-CoA synthase deficiency HMGCS2 deficiency
HMG-CoA lyase deficiency HMGCL deficiency
Succinyl-CoA:3-oxoacid-CoA transferase deficiency SCOT deficiency
Mitochondrial acetoacetyl-CoA thiolase deficiency MAT deficiency
Cytosolic acetoacetyl-CoA thiolase deficiency ACAT2 deficiency
SLC16A1-related disease
Monocarboxylate transporter 1 deficiency
Monocarboxylate transporter 1 deficiency with ketoacidosis
Monocarboxylate transporter 1 deficiency with myopathy
Exercise-induced hyperinsulinism
INTERMEDIARY METABOLISM: ENERGY
5         Disorders of energy substrate metabolism
5.1        Disorders of pyruvate metabolism
Mitochondrial pyruvate carrier deficiency
Pyruvate dehydrogenase complex deficiency PDHC deficiency
PDHA1-related PDHC deficiency
PDHX-related PDHC deficiency
PDHB-related PDHC deficiency
PDP1-related PDHC deficiency
Dihydrolipoamide acetyltransferase deficiency E2 deficiency
Dihydrolipoamide dehydrogenase deficiency E3 deficiency
Spermatogenic failure type 70
X-linked Charcot-Marie-Tooth type 6 CMTX6
Pyruvate dehydrogenase phosphatase regulatory subunit deficiency
5.2        Disorders of the Krebs cycle
Mitochondrial aconitase deficiency
Isocitrate dehydrogenase-related disease
IDH-related enchondromatosis
Ollier disease
Maffucci disease
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
IDH1-related disease
IDH1-related enchondromatosis
IDH2-related disease
D-2-hydroxyglutaric aciduria type 2 D2HGA
IDH2-related enchondromatosis
IDH3A-related disease
Retinitis pigmentosa type 90 RP90
IDH3B-related disease
Retinitis pigmentosa type 46 RP46
Oxoglutarate dehydrogenase-related disease OGDC-related disease
Oxoglutaric aciduria
DLST-related paragangliomas
OGDHL-related neurodevelopmental syndrome
Succinate-CoA ligase deficiency
SUCLA2-related succinate-CoA ligase deficiency
SUCLG1-related succinate-CoA ligase deficiency
Hereditary paraganglioma-pheochromocytoma syndrome
Carney-Stratakis syndrome
Gastrointestinal stromal tumor
Pheochromocytoma/secreting paraganglioma, sporadic
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Mitochondrial malate dehydrogenase deficiency
MDH2-related tumour disposition (?)
Aralar deficiency
Cytosolic malate dehydrogenase deficiency
Mitochondrial aspartate aminotransferase deficiency
Plasma membrane citrate transporter deficiency
Sodium dicarboxylate cotransporter 3 deficiency
5.3        Disorders of creatine metabolism
Arginine:glycine amidinotransferase deficiency AGAT deficiency
Fanconi renotubular syndrome type 1
Guanidinoacetate methyltransferase deficiency
Creatine transporter deficiency
6         mtDNA-related disorders
6.1        Disorders of mtDNA-encoded oxidative phosphorylation proteins
6.1.1 Disorders of mtDNA-encoded complex 1 subunits
NADH dehydrogenase core subunit 1 deficiency
NADH dehydrogenase core subunit 2 deficiency
NADH dehydrogenase core subunit 3 deficiency
NADH dehydrogenase core subunit 4 deficiency
NADH dehydrogenase core subunit 4L deficiency
NADH dehydrogenase core subunit 5 deficiency
NADH dehydrogenase core subunit 6 deficiency
6.1.2 Disorders of mtDNA-encoded complex 3 subunits
Mitochondrial cytochrome b deficiency
MT-CYB-related histocytoid cardiomyopathy
6.1.3 Disorders of mtDNA-encoded complex 4 subunits
Cytochrome c oxidase subunit 1 deficiency
Cytochrome c oxidase subunit 2 deficiency
Cytochrome c oxidase subunit 3 deficiency
6.1.4 Disorders of mtDNA-encoded ATP synthase subunits
Mitochondrial ATP synthase F0 subunit 6 deficiency
MT-ATP6-related mitochondrial spastic paraplegia
Mitochondrial ATP synthase F0 subunit 8 deficiency
6.2        Disorders of mtDNA-encoded tRNA and rRNA
Mitochondrial tRNA-Ala deficiency
Mitochondrial tRNA-Arg deficiency
Mitochondrial tRNA-Asn deficiency
Mitochondrial tRNA-Asp deficiency
Mitochondrial tRNA-Cys deficiency
Mitochondrial tRNA-Glu deficiency
Mitochondrial tRNA-Gln deficiency
Mitochondrial tRNA-Gly deficiency
Mitochondrial tRNA-His deficiency
Mitochondrial tRNA-Ile deficiency
Mitochondrial tRNA-Leu 1 deficiency
Mitochondrial tRNA-Leu 2 deficiency
Mitochondrial tRNA-Lys deficiency
Mitochondrial tRNA-Met deficiency
Mitochondrial tRNA-Phe deficiency
Mitochondrial tRNA-Pro deficiency
Mitochondrial tRNA-Ser 1 deficiency
Mitochondrial tRNA-Ser 2 deficiency
Mitochondrial tRNA-Thr deficiency
Mitochondrial tRNA-Trp deficiency
Mitochondrial tRNA-Tyr deficiency
Mitochondrial tRNA-Val deficiency
Mitochondrial ribosomal RNA 12S deficiency
Mitochondrial ribosomal RNA 16S deficiency
7         Nuclear-encoded disorders of oxidative phosphorylation
7.1        Disorders of nuclear encoded complex I subunits and assembly factors
7.1.1        Disorders of nuclear encoded complex I subunits
Respiratory chain complex I deficiency
NADH dehydrogenase flavoprotein 1 deficiency
NADH dehydrogenase flavoprotein 2 deficiency
NADH dehydrogenase iron-sulfur protein 1 deficiency
NADH dehydrogenase iron-sulfur protein 2 deficiency
NADH dehydrogenase iron-sulfur protein 3 deficiency
NADH dehydrogenase iron-sulfur protein 4 deficiency
NADH dehydrogenase iron-sulfur protein 6 deficiency
NADH dehydrogenase iron-sulfur protein 7 deficiency
NADH dehydrogenase iron-sulfur protein 8 deficiency
NADH dehydrogenase alpha subcomplex subunit 1 deficiency
NADH dehydrogenase alpha subcomplex subunit 2 deficiency
NADH dehydrogenase alpha subcomplex subunit 6 deficiency
NADH dehydrogenase alpha subcomplex subunit 8 deficiency
NADH dehydrogenase alpha subcomplex subunit 9 deficiency
NADH dehydrogenase alpha subcomplex subunit 10 deficiency
NADH dehydrogenase alpha subcomplex subunit 11 deficiency
NADH dehydrogenase alpha subcomplex subunit 12 deficiency
NADH dehydrogenase alpha subcomplex subunit 13 deficiency
NADH dehydrogenase beta subcomplex subunit 3 deficiency
NADH dehydrogenase beta subcomplex subunit 7 deficiency
NADH dehydrogenase beta subcomplex subunit 8 deficiency
NADH dehydrogenase beta subcomplex subunit 9 deficiency
NADH dehydrogenase beta subcomplex subunit 10 deficiency
NADH dehydrogenase beta subcomplex subunit 11 deficiency
NADH dehydrogenase subunit C2 deficiency
7.1.2        Disorders of nuclear encoded complex I assembly factors
Complex I assembly factor 1 deficiency
Complex I assembly factor 2 deficiency
Complex I assembly factor 3 deficiency
Complex I assembly factor 4 deficiency
Complex I assembly factor 5 deficiency
Complex I assembly factor 6 deficiency
Complex I assembly factor 7 deficiency
Complex I assembly factor 8 deficiency
PYURF deficiency
FOXRED1 deficiency
NUBPL deficiency
ACAD9 deficiency
Transmembrane protein 126A deficiency
Transmembrane protein 126B deficiency
TIMMDC1 deficiency
7.2        Disorders of complex II subunits and assembly factors
Respiratory chain complex II deficiency
Hereditary paraganglioma-pheochromocytoma syndrome
Succinate dehydrogenase subunit A deficiency
SDHA-related hereditary paraganglioma-pheochromocytoma syndrome
Succinate dehydrogenase subunit B deficiency
SDHB-related hereditary paraganglioma-pheochromocytoma syndrome
Cowden syndrome type 2
SDHC-related hereditary paraganglioma-pheochromocytoma syndrome
Succinate dehydrogenase subunit D deficiency
SDHD-related hereditary paraganglioma-pheochromocytoma syndrome
Cowden syndrome type 3
Succinate dehydrogenase complex assembly factor 1 deficiency
SDHF2-related hereditary paraganglioma-pheochromocytoma syndrome
7.3        Disorders of nuclear encoded complex III subunits and assembly factors
Respiratory chain complex III deficiency
UQCRFS1 deficiency
UQCRB deficiency
UQCRC1 deficiency
UQCRC2 deficiency
UQCRH deficiency
UQCRQ deficiency
UQCC2 deficiency
UQCC3 deficiency
Mitochondrial cytochrome c1 deficiency
Holocytochrome c synthase deficiency
BCS1L deficiency
TTC19 deficiency
LYRM7 deficiency
7.4        Disorders of nuclear encoded complex IV subunits and assembly factors
7.4.1        Disorders of nuclear encoded complex IV subunits
Respiratory chain complex IV deficiency
Cytochrome c oxidase subunit 4I1 deficiency
Cytochrome c oxidase subunit 4I2 deficiency
Cytochrome c oxidase subunit 5A deficiency
Cytochrome c oxidase subunit 6A1 deficiency
Cytochrome c oxidase subunit 6A2 deficiency
Cytochrome c oxidase subunit 6B1 deficiency
Cytochrome c oxidase subunit 7B deficiency
Cytochrome c oxidase subunit 8A deficiency
Cytochrome c oxidase subunit NDUFA4 (COXFA4) deficiency
7.4.2        Disorders of nuclear encoded complex IV assembly factors
COX11 deficiency
Cytochrome c oxidase assembly factor 3 deficiency
Cytochrome c oxidase assembly factor 5 deficiency
Cytochrome c oxidase assembly factor 6 deficiency
Cytochrome c oxidase assembly factor 7 deficiency
Cytochrome c oxidase assembly factor 10 deficiency
Cytochrome c oxidase assembly factor 14 deficiency
Cytochrome c oxidase assembly factor 15 deficiency
Cytochrome c oxidase assembly factor 16 deficiency
Cytochrome c oxidase assembly factor 20 deficiency
RAB5IF deficiency
SCO1 deficiency
SCO2 deficiency
SURF1 deficiency
SURF1-related Charcot-Marie-Tooth disease
LRPPRC deficiency
TACO1 deficiency
PET100 deficiency
PET117 deficiency
FASTKD2 deficiency
APOPT1 deficiency
CEP89 deficiency
7.5        Disorders of nuclear encoded ATP synthase subunits and assembly factors
ATP synthase deficiency
ATP synthase F1 subunit alpha deficiency ATP5F1A deficiency
ATP synthase F1 subunit beta deficiency ATP5F1B deficiency
ATP synthase F1 subunit delta deficiency ATP5F1D deficiency
ATP synthase F1 subunit epsilon deficiency ATP5F1E deficiency
ATP synthase membrane subunit dapit deficiency ATP5MD deficiency
ATP synthase F1 subunit O deficiency ATP5PO deficiency
ATP synthase F1 assembly factor 2 deficiency ATP5F2 deficiency
Transmembrane protein 70 deficiency
8         Disorders of mitochondrial cofactor biosynthesis
8.1        Disorders of coenzyme Q10 biosynthesis
Primary coenzyme Q10 deficiency
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Prenyl diphosphate synthase subunit 1 deficiency
Prenyl diphosphate synthase subunit 2 deficiency
Coenzyme Q2 polyprenyltranferase deficiency
Coenzyme Q4 deficiency
Coenzyme Q5 methyltransferase deficiency
Coenzyme Q6 monooxygenase deficiency
Coenzyme Q7 hydroxylase deficiency
ADCK2 deficiency
Coenzyme Q8A deficiency ADCK3 deficiency
Coenzyme Q8B deficiency ADCK4 deficiency
Coenzyme 9 deficiency
8.2        Disorders of lipoic acid and iron-sulfur metabolism
Multiple mitochondrial dysfunctions syndrome
Lipoyltransferase 2 deficiency
Lipoic acid synthase deficiency NELABA
Lipoyltransferase 1 deficiency
NFU1 deficiency
BOLA3 deficiency
Glutaredoxin 5 deficiency
GLRX5-related sideroblastic anemia
GLRX5-related childhood-onset spasticity with hyperglycinemia
IBA57 deficiency
IBA57-related autosomal recessive spastic paraplegia
ISCA1 deficiency
ISCA2 deficiency
ISCU deficiency
ABCB7 deficiency
Ferredoxin reductase deficiency
Auditory neuropathy and optic atrophy
Ferredoxin 2 deficiency
NFS1-ISD11 complex deficiency
ISD11 deficiency
NFS1 deficiency
Friedreich ataxia
8.3        Disorders of mitochondrial cytochrome c biosynthesis
Mitochondrial cytochrome c deficiency
9         Disorders of mitochondrial DNA maintenance and replication
9.1        Disorders of mitochondrial nucleotide pool maintenance
Mitochondrial deoxyguanosine kinase deficiency DGUOK deficiency
DGUOK deficiency, hepatocerebral form
DGUOK deficiency, adult-onset
Mitochondrial thymidine kinase deficiency
Mitochondrial UMP-CMP kinase 2 deficiency
MPV17 deficiency
Mitochondrial ribonucleotide reductase large subunit deficiency
Mitochondrial ribonucleotide reductase small subunit deficiency
Thymidine phosphorylase deficiency
SAMHD1 deficiency
9.2        Disorders of mtDNA replication and maintenance
Mitochondrial DNA polymerase gamma catalytic subunit deficiency POLG deficiency
Alpers syndrome
POLG-related progressive myoclonic epilepsy
Mitochondrial DNA polymerase gamma accessory subunit deficiency
TWINKLE mitochondrial DNA helicase deficiency
Single-stranded DNA-binding protein 1 deficiency
DNA2 helicase deficiency
Mitochondrial genome maintenance exonuclease 1 deficiency
Mitochondrial ribonuclease H1 deficiency
Topoisomerase 3 alpha deficiency
10    Disorders of mitochondrial gene expression
10.1    Disorders of mitochondrial transcript processing and modification
Mitochondrial RNA polymerase deficiency
Mitochondrial RNA import protein deficiency
Spinocerebellar ataxia type 25
Mitochondrial transcription factor A deficiency
Ribonuclease P 5' tRNA processing enzyme deficiency
HSD10 disease
RNase P catalytic subunit deficiency
Ribonuclease Z 3' tRNA processing enzyme deficiency
Mitochondrial poly(A) polymerase deficiency
Mitochondrial poly(A) exoribonuclease deficiency
CCA-adding tRNA-nucleotidyltransferase deficiency
Mitochondrial methionyl-tRNA formyltransferase deficiency
Mitochondrial methionyl-tRNA methyltransferase deficiency
tRNA 5-taurinomethyluridine modifier deficiency
tRNA 5-carboxymethylaminomethyl transferase deficiency
Pseudouridine synthase 1 deficiency
tRNA isopentenyl transferase deficiency
tRNA methyltransferase 5 deficiency
tRNA 5-methylaminomethyl-2-thiouridylate-methyltransferase deficiency
tRNA-His guanylyltransferase 1 like deficiency
10.2    Disorders of mitochondrial aminoacyl-tRNA synthetases
Mitochondrial alanyl-tRNA synthetase deficiency
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
Progressive leukoencephalopathy with ovarian failure
Mitochondrial arginyl-tRNA synthetase deficiency
Mitochondrial asparaginyl-tRNA synthetase deficiency
Mitochondrial aspartyl-tRNA synthetase deficiency
Mitochondrial cysteinyl-tRNA synthetase deficiency
Mitochondrial glutamyl-tRNA synthetase deficiency
Mitochondrial histidyl-tRNA synthetase deficiency
Mitochondrial isoleucyl-tRNA synthetase deficiency
Mitochondrial leucyl-tRNA synthetase deficiency
Mitochondrial methionyl-tRNA synthetase deficiency
Mitochondrial phenylalanyl-tRNA synthetase deficiency
Autosomal recessive spastic paraplegia type 77
Mitochondrial prolyl-tRNA synthetase deficiency
Mitochondrial seryl-tRNA synthetase deficiency
Mitochondrial threonyl-tRNA synthetase deficiency
Mitochondrial tyrosyl-tRNA synthetase deficiency
Mitochondrial valyl-tRNA synthetase deficiency
Mitochondrial tryptophanyl-tRNA synthetase deficiency
Mitochondrial glutamyl-tRNA amidotransferase deficiency
Mitochondrial glutamyl-tRNA amidotransferase subunit A deficiency
Mitochondrial glutamyl-tRNA amidotransferase subunit B deficiency
Mitochondrial glutamyl-tRNA amidotransferase subunit C deficiency
10.3    Disorders of the mitoribosome
10.3.1    Mitoribosome subunit deficiencies
Mitochondrial ribosomal large subunit 3 deficiency
Mitochondrial ribosomal large subunit 12 deficiency
Mitochondrial ribosomal large subunit 24 deficiency
Mitochondrial ribosomal large subunit 39 deficiency
Mitochondrial ribosomal large subunit 44 deficiency
Mitochondrial ribosomal large subunit 49 deficiency
Mitochondrial ribosomal small subunit 2 deficiency
Mitochondrial ribosomal small subunit 7 deficiency
Mitochondrial ribosomal small subunit 14 deficiency
Mitochondrial ribosomal small subunit 16 deficiency
Mitochondrial ribosomal small subunit 22 deficiency
Mitochondrial ribosomal small subunit 23 deficiency
Mitochondrial ribosomal small subunit 25 deficiency
Mitochondrial ribosomal small subunit 28 deficiency
Mitochondrial ribosomal small subunit 29 deficiency
Mitochondrial ribosomal small subunit 34 deficiency
Mitochondrial ribosomal small subunit 39 deficiency
10.3.2    Disorders of mitoribosome modification and assembly
ERAL1 deficiency
Mitochondrial rRNA methyltransferase 2 deficiency
RMND1 deficiency
Mitochondrial elongation factor G1 deficiency
Mitochondrial elongation factor G2 deficiency
Mitochondrial elongation factor Ts deficiency
Mitochondrial elongation factor Tu deficiency
Mitochondrial translation release factor in rescue deficiency MTRFR deficiency
GUF1 deficiency
SLIRP deficiency
11    Other disorders of mitochondrial function
11.1    Disorders of mitochondrial shuttles and carriers
Mitochondrial citrate carrier deficiency
Mitochondrial phosphate carrier deficiency
Adenine nucleotide translocator deficiency
Mitochondrial dicarboxylate transporter deficiency
Mitochondrial oxoglutarate/malate carrier deficiency
Cytosolic glycerol-3-phosphate dehydrogenase deficiency
Mitochondrial oxodicarboxylate carrier deficiency
Mitochondrial glutamate transporter deficiency
Mitochondrial ATP-Mg/phosphate transporter deficiency
Progeroid syndrome, Petty type
S-adenosylmethionine carrier deficiency
Mitochondrial pyrimidine nucleotide carrier deficiency
Mitochondrial glycine transporter deficiency
Mitochondrial calcium uniporter deficiency
Mitochondrial calcium uniporter 2 deficiency
11.2    Disorders of mitochondrial protein import
TOMM7 deficiency
TOMM70 deficiency
TIMM8A deficiency
TIMM14 deficiency
TIMM22 deficiency
Acylglycerol kinase deficiency
TIMM50 deficiency
MAGMAS deficiency
11.3    Disorders of mitochondrial protein quality control
Mitochondrial-processing peptidase alpha deficiency
Mitochondrial-processing peptidase beta deficiency
Mitochondrial intermediate peptidase deficiency
CLPB deficiency
CLPP deficiency
CLPX deficiency
LONP1 deficiency
HSPA9 deficiency
HSP60 deficiency
Autosomal dominant spastic paraplegia type 13
HSPE1 deficiency
FBXL4 deficiency
Sacsin deficiency
m-AAA protease subunit AFG3L2 deficiency
Spinocerebellar ataxia type 28
Paraplegin deficiency
ATAD3A deficiency
HTRA2 deficiency
Parkin deficiency
PINK1 deficiency
Pitrilysin metallopeptidase 1 deficiency
YME1L1 deficiency
Oxa1-like deficiency
11.4    Miscellaneous disorders associated with mitochondrial dysfunction
Mitochondrial inorganic pyrophosphatase 2 deficiency
Mitochondrial thioredoxin 2 deficiency
Mitochondrial thioredoxin reductase 2 deficiency
Sideroflexin 4 deficiency
AIFM1 deficiency
Severe X-linked mitochondrial encephalomyopathy
X-linked Charcot-Marie-Tooth disease type 4
X-linked hereditary sensory and autonomic neuropathy with deafness
C1q binding protein deficiency
Nogo-interacting mitochondrial protein deficiency
DIABLO deficiency
Peptidyl-tRNA hydrolase 2 deficiency
GFER deficiency
Nucleoside diphosphate kinase 3 deficiency
LETM1 deficiency
C2orf69 deficiency
12    Phenotypes linked to primary disorders of energy metabolism
12.1    Syndromic mitochondrial disorders
Congenital lactic acidosis
Pearson syndrome
Reversible infantile respiratory chain deficiency RIRCD
Reversible infantile myopathy
Reversible liver disease
Leigh syndrome
mtDNA-related Leigh syndrome
Mitochondrial DNA depletion syndromes MDDS
MDDS, hepatocerebral form
Navajo neurohepatopathy
MDDS, cerebrorenal form
MDDS, hepatocerebrorenal form
MDDS with progressive myopathy
MDDS with myopathy and cardiomyopathy
MDDS with encephalomyopathy
Alpers-like syndrome
MELAS syndrome
MERRF syndrome
NARP syndrome
Kearns-Sayre syndrome KSS
Mitochondrial neuro-gastro-intestinal encephalopathy MNGIE
Progressive external opthalmoplegia PEO
Progressive external opthalmoplegia, autosomal recessive
Progressive external opthalmoplegia, autosomal dominant
Progressive external ophthalmoplegia, mtDNA-related
Maternally inherited diabetes and deafness MIDD
Perrault syndrome
12.2    Organ-based approach to mitochondrial disorders
Mitochondrial heart disease
Mitochondrial cardiomyopathy
Hypertrophic cardiomyopathy with kidney anomalies
Mitochondrial cardiac conduction defects
Mitochondrial cardiac valvular disease
Mitochondrial kidney disease
Mitochondrial renal tubulopathy, nuclear gene associated
Mitochondrial renal tubulopathy, mtDNA-related
Mitochondrial steroid-resistant nephrotic syndrome
Mitochondrial focal segmental glomerulosclerosis
Mitochondrial renal failure
Mitochondrial endocrine disease
Mitochondrial diabetes mellitus
Mitochondrial adrenal insufficiency
Mitochondrial growth hormone deficiency
Mitochondrial premature ovarian failure
Mitochondrial gastrointestinal disease
Mitochondrial dysmotility and/or enteropathy
Mitochondrial pancreatic exocrine insufficiency
Mitochondrial liver disease
Mitochondrial reversible liver disease
Mitochondrial neuromuscular disease
Mitochondrial ataxia syndrome, autosomal recessive
Mitochondrial peripheral neuropathy
Mitochondrial axonal neuropathy
Mitochondrial Charcot-Marie-Tooth disease
Mitochondrial demyelinating neuropathy
Mitochondrial myopathy, lethal infantile
Mitochondrial eye disease
Mitochondrial corneal clouding
Mitochondrial cataract
Mitochondrial optic neuropathy
Leber's hereditary optic neuropathy LHON
Mitochondrial pigmentary retinopathy
Mitochondrial deafness
Non-syndromic aminoglycoside sensitivity
Mitochondrial non-syndromic sensorineural deafness
Mitochondrial syndromic deafness
Mitochondrial hematological disease
Mitochondrial sideroblastic anemia ± pancytopenia
Mitochondrial immune dysfunction
Mitochondrial B cell immune deficiency
Mitochondrial disease with hair and skin abnormalities
Mitochondrial disease with hypertrichosis
Mitochondrial disease with Pili torti
Mitochondrial disease with alopecia
Mitochondrial disease with cutis laxa
INTERMEDIARY METABOLISM: OTHERS
13    Miscellaneous disorders of intermediary metabolism
13.1    Disorders of metabolite repair
D-2-hydroxyglutaric aciduria type 1 D2HGA1
L-2-hydroxyglutaric aciduria L2HGA
Combined malonic and methylmalonic aciduria CMAMMA
Ubiquitous glucose-6-phosphatase deficiency
13.2    Disorders of reactive oxygen species metabolism
Catalase deficiency
Superoxide dismutase 1 deficiency
Amyotrophic lateral sclerosis type 1
Progressive Spastic Tetraplegia and Axial Hypotonia STAHP
13.3    Disorders of glyoxylate and oxalate metabolism
Hyperoxaluria
Primary hyperoxaluria type 1
Primary hyperoxaluria type 2
Hydroxyacid oxidase 1 deficiency
SLC26A1 deficiency
SLC26A6 deficiency
13.4    Disorders of the metabolism of hydrogen sulfide and other sulfur-containing metabolites
Mercaptopyruvate sulfurtransferase deficiency
Mitochondrial sulfide:quinone oxidoreductase deficiency
Ethylmalonic encephalopathy
Sulfite oxidase deficiency, isolated
Methanethiol oxidase deficiency
13.5    Other disorders of intermediary metabolism
Malonic aciduria
LIPID METABOLISM AND TRANSPORT
14    Disorders of lipid metabolism
14.1    Disorders of fatty acyl synthesis, elongation, and recycling
Cytosolic acetyl-CoA carboxylase 1 deficiency
Mitochondrial acetyl-CoA carboxylase 2 deficiency
3-Hydroxyacyl-CoA dehydratase 1 deficiency
Trans-2,3-enoyl-CoA reductase deficiency
Mitochondrial malonyltransferase deficiency
Mitochondrial enoyl-CoA reductase deficiency MEPAN
Very long-chain fatty acid elongase 1 deficiency IKSHD
Very long-chain fatty acid elongase 4 deficiency
Spinocerebellar ataxia type 34 SCA34
Stargardt disease type 3
Very long-chain fatty acid elongase 5 deficiency SCA39
Long-chain fatty acid-CoA ligase 4 deficiency
Long-chain fatty acid-CoA ligase 5 deficiency
Fatty aldehyde dehydrogenase deficiency
14.2    Disorders of peroxisomal fatty acid oxidation
ABCD1 deficiency XALS
Adrenomyeloneuropathy
X-linked cerebral adrenoleukodystrophy
Peroxisomal straight-chain acyl-CoA oxidase deficiency
Mitchell Syndrome
D-bifunctional protein deficiency
Perrault syndrome type 1
L-bifunctional protein deficiency
Sterol carrier protein 2 deficiency
Phytanoyl-CoA hydroxylase deficiency
14.3    Disorders of eicosanoid metabolism
Cytosolic phospholipase A2 alpha deficiency
Cryptogenic multifocal ulcerating stenosing enteritis CMUSE
Thromboxane synthase deficiency
Primary hypertrophic osteoarthropathy
15-hydroxy prostaglandin dehydrogenase deficiency
HPGD-related congenital finger clubbing
Prostaglandin transporter deficiency
Leukotriene C4 synthase deficiency
14.4    Disorders of glycerolipid metabolism
Lysophosphatidic acid acyltransferase deficiency
Lipin 1 deficiency
Lipin 2 deficiency
Diacylglycerol acyltransferase deficiency
CGI-58 deficiency
Adipose triglyceride lipase deficiency
PNPLA2-related cardiomyovasculopathy
Perilipin 1 deficiency
Perilipin 4 deficiency
Perilipin 5 deficiency
Hormone-sensitive lipase deficiency
BSCL2-related disease
Seipin deficiency
Seipin superactivity
DAGLA-related neuro-ocular syndrome
14.5    Disorders of glycerophospholipid metabolism
14.5.1    Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism
Ethanolaminephosphotransferase 1 deficiency
Choline kinase alpha deficiency
Choline kinase beta deficiency
CHKB-related proximal myopathy with focal depletion of mitochondria
Phosphocholine cytidylyltransferase 1 alpha deficiency, retinoskeletal phenotype PCYT1A deficiency
PCYT1A deficiency, retinoskeletal phenotype
PCYT1A deficiency, lipodystrophy phenotype
Phosphocholine cytidylyltransferase 2 deficiency
PTDSS1-related disease
Phosphatidylserine synthase 1 superactivity
Phosphatidylserine flippase deficiency
Phospholipid transporter ATPase 11A deficiency
Phospholipid transporter ATPase 11C deficiency
Lysophosphatidylinositol acyltransferase 1 deficiency
Phospholipase A2 group 6 deficiency
PLA2G6-related adult-onset dystonia-parkinsonism
DDHD1 deficiency
DDHD2 deficiency
PNPLA6 deficiency
Boucher-Neuhauser syndrome
Autosomal recessive spastic paraplegia type 39
Laurence-Moon syndrome
Oliver-McFarlane syndrome
ABHD16A deficiency
ABHD12 deficiency
CYP2U1 deficiency
Diacylglycerol kinase epsilon deficiency
DGKE-related immunoglobulin-mediated membranoproliferative glomerulonephritis
Lipase H deficiency
Lysophosphatidic acid receptor 6 deficiency
Lysophosphatidylcholine-esterified long-chain fatty acid transporter deficiency
Fatty acid amide hydrolase 2 deficiency
Scott syndrome
14.5.2    Disorders of phosphatidylinositol metabolism
Phosphatidylinositol-3,5-bisphosphate 5-phosphatase deficiency
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Bilateral parasagittal parieto-occipital polymicrogyria
Yunis-Varon syndrome
Phosphatidylinositol-4,5-bisphosphate 5-phosphatase deficiency
Dent disease type 2
Synaptojanin 1 deficiency
Myotubularin 1 deficiency
Myotubularin-related protein 2 deficiency
Myotubularin-related protein 2 regulatory protein deficiency
Myotubularin-related protein 2 activator deficiency
PIK3CA-related overgrowth syndrome
CLAPO syndrome
CLOVES syndrome
Hemihyperplasia-multiple lipomatosis syndrome
PIK3CA-related Klippel-Trénaunay syndrome
PIK3CA-related megalencephaly-capillary malformation syndrome PIK3CA-related MCAP syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Catalytic phosphatidylinositol 3-kinase subunit delta associated disease
Activated PI3K-delta syndrome
PI3K-delta deficiency
Catalytic phosphatidylinositol 3-kinase subunit gamma deficiency
Phosphatidylinositol 3-kinase regulatory subunit 1 deficiency
Phosphatidylinositol 3-kinase regulatory subunit 2 superactivity
Phosphatidylinositol-4,5-bisphosphate 3-kinase regulatory subunit deficiency
Phosphatidylinositol-3-phosphate 5-kinase deficiency
VAC14 deficiency
Phosphatidylinositol-4-phosphate 5-kinase deficiency
Phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha deficiency
Phosphatidylinositol 4-kinase type 2 alpha deficiency
Phosphatidylinositol 4-kinase type 3 alpha deficiency
Autosomal recessive spastic paraplegia type 84
Perisylvian polymicrogyria with cerebellar hypoplasia and arthrogryposis
Gastrointestinal defects and immunodeficiency syndrome
Phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase deficiency
Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase deficiency
Inositol polyphosphate 5-phosphatase E deficiency
MORM syndrome
Joubert syndrome type 1
Inositol polyphosphate 5-phosphatase K deficiency
Phosphatidylinositol-4,5-bisphosphate phospholipase C beta 1 deficiency
Phosphatidylinositol-4,5-bisphosphate phospholipase C beta 3 deficiency
Phosphatidylinositol-4,5-bisphosphate phospholipase C beta 4 deficiency
Phosphatidylinositol-4,5-bisphosphate phospholipase C gamma 2 deficiency
Autoinflammation and PLCG2-related antibody deficiency and immune dysregulation APLAID
Phosphatidylinositol-4,5-bisphosphate phospholipase C delta 1 deficiency
Phosphatidylinositol-4,5-bisphosphate phospholipase C epsilon 1 deficiency
Phosphatidylinositol-4,5-bisphosphate phospholipase C eta 1 deficiency
Inositol-1,4,5-triphosphate receptor type 1 deficiency
Spinocerebellar ataxia type 15
Spinocerebellar ataxia type 29
Inositol-1,4,5-triphosphate receptor type 2 deficiency
14.5.3    Disorders of ether lipid metabolism
Rhizomelic chondrodysplasia punctata
Peroxisomal targeting signal 2 receptor deficiency
Refsum disease type 2
Glycerone 3-phosphate acyltransferase deficiency
Alkylglycerone 3-phosphate synthase deficiency
FAR1-related disease
Fatty acyl-CoA reductase 1 deficiency FAR1 deficiency
Fatty acyl-CoA reductase 1 superactivity FAR1 superactivity
Alkylglycerol monooxygenase deficiency
14.6    Disorders of sphingolipid synthesis and recycling
Serine palmitoyltransferase deficiency
Serine palmitoyltransferase subunit 1 deficiency
Serine palmitoyltransferase subunit 2 deficiency
Serine palmitoyltransferase small subunit A deficiency
3-Ketodihydrosphingosine reductase deficiency
Ceramide synthase 1 deficiency
Ceramide synthase 2 deficiency
Ceramide synthase 3 deficiency
TLCD3B deficiency
Dihydroceramide desaturase deficiency
Alkaline ceramidase 3 deficiency
CYP4F22 omega hydroxylase deficiency
Fatty acid transport protein 4 deficiency
Acylceramide transacylase deficiency
UDP-glucose ceramide glucosyltransferase deficiency
ABCA12 lipid transporter deficiency
Arachidonate 12-lipoxygenase, R type deficiency
Arachidonate lipoxygenase 3 deficiency
SDR9C7 deficiency
Lipase N deficiency
Nonlysosomal glucosylceramidase deficiency
Autosomal recessive cerebellar ataxia with late-onset spasticity
Fatty acid 2-hydroxylase deficiency
Autosomal recessive spastic paraplegia type 35
Sphingosine-1-phosphate lyase deficiency
Sphingosine-1-phosphate transporter deficiency
Sphingomyelin synthase 2 deficiency
14.7    Disorders of sterol and bile acid metabolism
14.7.1    Disorders of sterol biosynthesis
Porokeratosis
3-Hydroxy-3-methylglutaryl-CoA reductase deficiency
Mevalonate kinase deficiency
Mevalonic aciduria
Hyper-IgD syndrome
Porokeratosis type 3
Phosphomevalonate kinase deficiency
Mevalonate pyrophosphate decarboxylase deficiency
Farnesyl diphosphate synthase deficiency
Geranylgeranyl pyrophosphate synthase deficiency
Squalene synthase deficiency
Lanosterol 14-alpha-demethylase deficiency
Lanosterol synthase deficiency
LSS-related cataracts
LSS-related hypotrichosis simplex
Alopecia-intellectual disability syndrome
Autosomal recessive palmoplantar keratoderma and congenital alopecia
Sterol C14 reductase deficiency
Greenberg dysplasia
Regressive spondylometaphyseal dysplasia
Reynolds syndrome
Pelger-Huët anomaly
Sterol-C4-methyl oxidase deficiency
NSDHL-related disease
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects CHILD syndrome
CK syndrome
Cholestenol delta-isomerase deficiency
X-linked chondrodysplasia punctata type 2
Male EBP disorder with Neurologic Defects MEND syndrome
Lathosterolosis
Desmosterolosis
Smith-Lemli-Opitz syndrome
14.7.2.    Disorders of bile acid synthesis
Cholesterol 7-alpha-hydroxylase deficiency
3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency CBAS1
Delta-4-3-oxosteroid 5-beta-reductase deficiency CBAS2
Oxysterol 7-alpha-hydroxylase deficiency CBAS3
Autosomal recessive spastic paraplegia type 5A
Alpha-methylacyl-CoA racemase deficiency CBAS4
PMP70 deficiency CBAS5
14.7.3    Disorders of sterol and bile acid breakdown
Sterol 27-hydroxylase deficiency
Peroxisomal branched-chain acyl-CoA oxidase deficiency CBAS6
Sitosterolemia
ABCG5-related sitosterolemia
ABCG8-related sitosterolemia
14.7.4    Other disorders of bile acid metabolism
Progressive familial intrahepatic cholestasis PFIC
Benign recurrent intrahepatic cholestasis
Phosphatidylserine translocator deficiency PFIC1
Bile salt export pump deficiency PFIC2
Benign recurrent intrahepatic cholestasis type 2
Phosphatidylcholine translocator deficiency PFIC3
low phospholipid-associated cholelithiasis
Bile acid receptor deficiency PFIC5
Bile acid-CoA:amino acid N-acyltransferase deficiency
Apical bile salt transporter deficiency
Sodium-taurocholate cotransporting polypeptide deficiency NTCP deficiency
Organic solute transporter alpha deficiency PFIC6
Organic solute transporter beta deficiency
15    Disorders of lipoprotein metabolism
15.1    Disorders of low-density lipoprotein (LDL) metabolism
Familial hypercholesterolemia
Biallelic hypercholesterolemia
LDL receptor deficiency
Homozygous LDL receptor deficiency
LDL receptor adaptor protein 1 deficiency
Apolipoprotein B deficiency
APOB-related familial hypercholesterolemia
PCSK9 deficiency
PCSK9-related familial hypercholesterolemia
Microsomal triglyceride transfer protein deficiency
LPA-related disease
15.2    Hypertriglyceridemias
Lipoprotein lipase deficiency
Apolipoprotein C2 deficiency
GPIHBP1 deficiency
Lipase maturation factor 1 deficiency
Apolipoprotein A5 deficiency
CREB3L3 deficiency
15.3    Mixed hyperlipidemias
APOE-related diseases
Apolipoprotein E deficiency
Sea-blue histiocytosis
APOE-related familial hypercholesterolemia
Lipoprotein glomerulopathy
Familial combined hyperlipidemia type 1
Hepatic lipase deficiency
15.4    Disorders of high-density lipoprotein (HDL) metabolism
Lecithin:cholesterol acyltransferase deficiency
Fish-eye disease
Lecithin:cholesterol acyltransferase deficiency, familial
Tangier disease
Familial hypoalphalipoproteinämie
Apolipoprotein A1 deficiency
APOA1-related amyloidosis
Hyperalphalipoproteinemia
Cholesteryl ester transfer protein deficiency
Apolipoprotein C3 deficiency
SCARB1 deficiency
15.6    Other disorders of lipoprotein metabolism
Angiopoietin-like 3 deficiency
Chylomicron retention disease
Very low-density lipoprotein receptor deficiency
Lipolysis-stimulated lipoprotein receptor deficiency
METABOLISM OF HETEROCYCLIC COMPOUNDS
16    Disorders of nucleobase, nucleotide and nucleic acid metabolism
16.1    Disorders of pyrimidine metabolism
CAD trifunctional protein deficiency
Miller syndrome
Hereditary orotic aciduria
dUTP pyrophosphatase deficiency
Thymidylate synthetase deficiency
Deoxythymidylate kinase deficiency
CTP synthase 1 deficiency
Pyrimidine nucleoside transporter deficiency
Cytosolic pyrimidine 5'-nucleotidase deficiency
Dihydropyrimidine dehydrogenase deficiency
Dihydropyrimidinase deficiency
Beta-ureidopropionase deficiency
Hyper-beta-aminoisobutyric aciduria
Hyper-beta-alaninemia
16.2    Disorders of purine metabolism
PRPS1-related disease
Phosphoribosylpyrophosphate synthetase superactivity, severe form
Phosphoribosylpyrophosphate synthetase superactivity, attenuated form
PRPS1-related non-syndromic sensorineural deafness
X linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
X-linked Charcot-Marie-Tooth disease type 5
Phosphoribosylpyrophosphate synthetase superactivity
Phosphoribosylaminoimidazole carboxylase deficiency
Adenylosuccinate lyase deficiency
AICAR transformylase/IMP cyclohydrolase deficiency
Myoadenylate deaminase deficiency
Adenosine monophosphate deaminase 2 deficiency
Autosomal recessive spastic paraplegia type 63
Erythrocyte adenosine monophosphate deaminase 3 deficiency
Adenosine kinase deficiency
Adenosine deaminase 1 deficiency
Adenosine deaminase superactivity
Adenosine deaminase 2 deficiency
Sneddon syndrome
Purine nucleoside phosphorylase deficiency
FAMIN deficiency
Xanthine oxidase deficiency
Lesch-Nyhan syndrome
Kelley-Seegmiller syndrome
Adenine phosphoribosyltransferase deficiency
Adenylate kinase 1 deficiency
Adenylate kinase 2 deficiency
Adenylate kinase 7 deficiency
Adenylosuccinate synthase-like 1 deficiency
Inosine-5'-monophosphate dehydrogenase deficiency RP10
Inosine-5'-monophosphate dehydrogenase type 2 deficiency
Thiopurine methyltransferase deficiency
NUDT15 deficiency
Inosine triphosphatase deficiency
Hereditary renal hypouricemia
Urate transporter 1 deficiency
Urate voltage-driven efflux transporter 1 deficiency
16.3    Disorders of ectonucleotide and nucleic acid metabolism
Aicardi-Goutières syndrome
Ribonuclease H2 deficiency
Ribonuclease H2 subunit A deficiency
Ribonuclease H2 subunit B deficiency
Ribonuclease H2 subunit C deficiency
3' repair exonuclease 1 deficiency
Ribonuclease T2 deficiency
RNA-specific adenosine deaminase 1 deficiency
Dyschromatosis symmetrica hereditaria
RNA-specific adenosine deaminase 2 deficiency
MDA5 superactivity
Singleton-Merten dysplasia
LSM11 deficiency
RNU7-1 deficiency
STING superactivity
2',5'-oligoadenylate synthetase 1 deficiency
Activation-induced cytidine deaminase deficiency
Uracil-DNA glycosylase deficiency
ABCC6 deficiency
Pseudoxanthoma elasticum
Ectonucleotide pyrophosphatase/ phosphodiesterase 1 deficiency
Hypopigmentation-punctate palmoplantar keratoderma syndrome
Autosomal recessive hypophosphatemic rickets type 2
Cole disease
Ectonucleoside triphosphate diphosphohydrolase 1 deficiency
Ecto-5'-nucleotidase deficiency ACDC
Ecto-5'-nucleotidase superactivity
Equilibrative nucleoside transporter 1 deficiency
Equilibrative nucleoside transporter 3 deficiency
Dysosteosclerosis
Histiocytosis-lymphadenopathy plus syndrom
16.4    Disorders of non-mitochondrial tRNA processing and aminoacyl-tRNA synthetases
16.4.1    Disorders of non-mitochondrial tRNA processing
tRNA splicing endonuclease subunit 2 deficiency
tRNA splicing endonuclease subunit 15 deficiency
tRNA splicing endonuclease subunit 34 deficiency
tRNA splicing endonuclease subunit 54 deficiency
CLP1 deficiency
tRNA methyltransferase 10A deficiency
tRNA methyltransferase 1 deficiency
DALRD3 deficiency
FTSJ RNA 2’-O-methyltransferase 1 deficiency
NSUN2 deficiency
tRNA-specific adenosine deaminase 3 deficiency
Elongator complex protein 1 deficiency
Elongator complex protein 2 deficiency
Cytosolic thyouridylase subunit 2 deficiency
tRNA N4-acetylcytidine transferase deficiency
Galloway-Mowat syndrome
Galloway-Mowat syndrome, type 1
Galloway-Mowat syndrome type 2
Galloway-Mowat syndrome type 3
Galloway-Mowat syndrome type 4
Galloway-Mowat syndrome type 5
Galloway-Mowat syndrome type 6
Galloway-Mowat syndrome type 7
Galloway-Mowat syndrome type 8
Galloway-Mowat syndrome type 9
Galloway-Mowat syndrome, type 10
Pseudouridine synthase 3 deficiency
AIMP1/p43 deficiency
AIMP2/p38 deficiency
16.4.2    Disorders of non-mitochondrial aminoacyl-tRNA synthetases
Alanyl-tRNA synthetase 1 deficiency
Axonal Charcot-Marie-Tooth disease type 2N
Arginyl-tRNA synthetase 1 deficiency
Asparaginyl-tRNA synthetase 1 deficiency
Aspartyl-tRNA synthetase 1 deficiency
Cysteinyl-tRNA synthetase 1 deficiency
Glutaminyl-tRNA synthetase 1 deficiency
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy
Glutamyl-prolyl-tRNA synthetase 1 deficiency
Histidyl-tRNA synthetase 1 deficiency
Isoleucyl-tRNA synthetase 1 deficiency
Leucyl-tRNA synthetase 1 deficiency
Mitochondrial and cytoplasmic lysyl-tRNA synthetase deficiency
Adult-onset progressive leukoencephalopathy-early-onset deafness
Recessive intermediate Charcot-Marie-Tooth disease type B
Autosomal recessive deafness type 89
Methionyl-tRNA synthetase 1 deficiency
Axonal Charcot-Marie-Tooth type 2U
Phenylalanyl-tRNA synthetase subunit alpha deficiency
Phenylalanyl-tRNA synthetase subunit beta deficiency
Seryl-tRNA synthetase 1 deficiency
Threonyl-tRNA synthetase 1 deficiency
Tryptophanyl-tRNA synthetase 1 deficiency
Tyrosyl-tRNA synthetase 1 deficiency
Valyl-tRNA synthetase 1 deficiency
Mitochondrial and cytoplasmic glycyl-tRNA synthetase deficiency
Infantile spinal muscular atrophy, James type
Charcot-Marie-Tooth disease type 2D
Distal hereditary motor neuropathy type 5A
16.5    Disorders of non-mitochondrial ribosomal biogenesis and function
16.5.1    RNA polymerase I disorders
Treacher Collins syndrome
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
Treacher Collins syndrome type 1
Treacher Collins syndrome type 2
Treacher Collins syndrome type 3
Hypomyelinating leukodystrophy type 11
Treacher Collins syndrome type 4
Acrofacial dysostosis, Cincinnati type
16.5.2    RNA polymerase III disorders
POLR3-related leukodystrophy
Wiedemann-Rautenstrauch syndrome
POL3A-related disease
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
Odontoleukodystrophy
Tremor-ataxia-central hypomyelination syndrome
POL3B-related disease
POLR3H-related primary ovarian insufficiency
POLR3K-related disease
POLR3GL-related disease
POLR3GL-related isolated hypgonadotropic hypgonadis
16.5.3    Disorders of cytosomal ribosomal proteins
Diamond-Blackfan anemia
Cytosolic small ribosomal subunit 19 deficiency
Cytosolic small ribosomal subunit 24 deficiency
Cytosolic small ribosomal subunit 20 deficiency
Cytosolic large ribosomal subunit 35A deficiency
Cytosolic large ribosomal subunit 5 deficiency
Cytosolic large ribosomal subunit 11 deficiency
Cytosolic small ribosomal subunit 7 deficiency
Cytosolic small ribosomal subunit 10 deficiency
Cytosolic small ribosomal subunit 26 deficiency
Cytosolic large ribosomal subunit 26 deficiency
Cytosolic large ribosomal subunit 15 deficiency
Cytosolic small ribosomal subunit 29 deficiency
Cytosolic small ribosomal subunit 28 deficiency
Cytosolic large ribosomal subunit 27 deficiency
Cytosolic small ribosomal subunit 27 deficiency
Cytosolic large ribosomal subunit 18 deficiency
Cytosolic large ribosomal subunit 35 deficiency
Cytosolic small ribosomal subunit 15A deficiency
Cytosolic large ribosomal subunit 3-like deficiency
Cytosolic large ribosomal subunit 10 deficiency
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
Cytosolic large ribosomal subunit 13 deficiency
Cytosolic large ribosomal subunit 21 deficiency
Cytosolic small ribosomal subunit 20 deficiency
Cytosolic small ribosomal subunit 23 deficiency
16.5    Other disorders of ribosomal biogenesis
TSR2 ribosome maturation factor deficiency
Shwachman-Diamond syndrome
Shwachman-Diamond syndrome type 1
Shwachman-Diamond syndrome type 2
DNAJC21-related disease
EIF6-related disease
Dyskeratosis congenita
Autosomal recessive dyskeratosis congenita type 1
Autosomal recessive dyskeratosis congenita type 2
Autosomal recessive dyskeratosis congenita type 6
PARN-related pulmonary fibrosis and/or bone marrow failure syndrome
X-linked dyskeratosis congenita
Ribosomal protein SA deficiency
TAF1A-related familial isolated dilated cardiomyopathy
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
SHQ1 deficiency
Nucleophosmin 1 deficiency
RBM28 deficiency
Leukoencephalopathy with brain calcifications and cysts
Anauxetic dysplasia
Cartilage-hair hypoplasia
Anauxetic dysplasia type 1
POP1 deficiency
NEPRO-related skeletal dysplasia
Exoribonuclease 1 deficiency
Bowen-Conradi syndrome
BMS1-related aplasia cutis congenita
LTV1 deficiency IPHAK syndrome
17    Disorders of tetrapyrrole metabolism
17.1    Disorders of heme synthesis and porphyrias
GATA1 deficiency
Beta-thalassemia-X-linked thrombocytopenia syndrome
Thrombocytopenia with congenital dyserythropoietic anemia
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
X-linked sideroblastic anemia type 1
X-linked protoporphyria
Delta-aminolevulinic acid dehydratase deficiency
Acute intermittent porphyria
Congenital erythropoietic porphyria
Porphyria cutanea tarda
Porphyria cutanea tarda type 1
Porphyria cutanea tarda type 2
Coproporphyrinogen oxidase deficiency
Harderoporphyria
Protoporphyrinogen oxidase deficiency
Ferrochelatase deficiency
Mitochondrial porphyrin transporter deficiency
Familial pseudohyperkalemia type 2
Dyschromatosis universalis hereditaria type 3
Microphthalmia with coloboma type 7
17.2    Disorders of heme degradation and bilirubin metabolism
Heme oxygenase 1 deficiency
Methemoglobinemia
NADH-cytochrome b5 reductase deficiency
Methemoglobinemia type 4
Hyperbiliverdinemia
Crigler-Najjar syndrome
Crigler-Najjar syndrome type 1
Crigler-Najjar syndrome type 2
Transient familial neonatal hyperbilirubinemia
Gilbert syndrome
Dubin-Johnson syndrome
Rotor syndrome
SLCO1B1 deficiency in Rotor syndrome
SLCO1B3 deficiency in Rotor syndrome
COMPLEX MOLECULE AND ORGANELLE METABOLISM
18    Congenital disorders of glycosylation
18.1    Disorders of N-linked protein glycosylation
PMM2-CDG
MPI-CDG
DPAGT1-CDG
ALG13-CDG
ALG14-CDG
ALG1-CDG
ALG2-CDG
ALG10-CDG
ALG11-CDG
ALG5-CDG
RFT1-CDG
ALG3-CDG
ALG9-CDG
ALG12-CDG
ALG6-CDG
ALG8-CDG
Polycystic liver disease type 3
DDOST-CDG
TUSC3-CDG
STT3A-CDG
STT3B-CDG
OSTC-CDG
MAGT1-CDG
SSR3-CDG
SSR4-CDG
MOGS-CDG
GANAB-CDG
PRKCSH-CDG
SEC63-CDG
EDEM3-CDG
MAN2A2-CDG
MAN1B1-CDG
MAN2B2-CDG
MGAT2-CDG
B4GALT1-CDG
FUT8-CDG
GFUS-CDG
FUK-CDG
18.2    Disorders of O-linked protein glycosylation
18.2.1    Disorders of O-mannosylation
Muscular dystrophy-dystroglycanopathy MDDG
Walker-Warburg syndrome WWS
Muscle-eye-brain disease MEB
Muscular dystrophy-dystroglycanopathy Type B MDDGB
Muscular dystrophy-dystroglycanopathy Type C MDDGC
POMT1-CDG
POMT2-CDG
POMGNT1-CDG
Retinitis pigmentosa type 76 RP76
POMGNT2-CDG
B3GALNT2-CDG
POMK-CDG
CRPPA-CDG
FKTN-CDG
FKTN-related limb-girdle muscular dystrophy
FKRP-CDG
RXYLT1-CDG
B4GAT1-CDG
LARGE1-CDG
TMEM260-CDG
TMTC3-CDG
18.2.2    Disorders of O-fucosylation
POFUT1-CDG
LFNG-CDG
B3GLCT-CDG
18.2.3    Disorders of glycosaminoglycan synthesis and O-xylosylation
Glycosaminoglycan xylosylkinase deficiency
Desbuquois dysplasia type 2
Spondyloocular syndrome
Spondylosdysplastic Ehlers-Danlos syndrome spEDS
Spondylodysplastic Ehlers-Danlos syndrome type 1 spEDS-B4GALT7
Spondylodysplastic Ehlers-Danlos syndrome type 2 spEDS-B3GALT6
Spondyloepimetaphyseal dysplasia with joint laxity type 1
B3GAT3-CDG
Multiple hereditary exostoses
Multiple hereditary exostoses type 1
Trichorhinophalangeal syndrome type 2
Multiple hereditary exostoses type 2
Seizures, scoliosis, and macrocephaly/microcephaly syndrome SSMS
Potocki-Shaffer syndrome
EXTL3-CDG
NDST1-CDG
HS2ST1-CDG
HS6ST1-CDG
HS6ST2-CDG
CSGALNACT1-CDG
Temtamy preaxial brachydactyly syndrome
CHST11-CDG
Spondyloepiphyseal dysplasia with congenital joint dislocations
Musculocontractural Ehlers-Danlos syndrome
Musculocontractural Ehlers-Danlos syndrome type 1 mcEDS-1
Musculocontractural Ehlers-Danlos syndrome type 2 mcEDS-2
Macular corneal dystrophy
Desbuquois dysplasia type 1
Multiple epiphyseal dysplasia type 7
Renal/intestinal sulfate transporter deficiency
Sulfate transporter deficiency
Multiple epiphyseal dysplasia type 4
Atelosteogenesis type 2
Achondrogenesis type 1B
Diastrophic dysplasia
Phosphoadenosine 5'-phosphosulfate transporter deficiency
Phosphoadenosine 5'-phosphosulfate synthetase 2 deficiency
Autosomal recessive brachyolmia
Golgi-resident phosphoadenosine phosphate phosphatase deficiency
SLC10A7-CDG
18.2.4    Other disorders of O-linked protein glycosylation
GALNT2-CDG
GALNT3-CDG
GALNT14-CDG
COLGALT1-CDG
C1GALT1C-CDG
OGT-CDG
EOGT-CDG
POGLUT1-CDG
POGLUT1-related limb-girdle muscular dystrophy
18.3    Disorders of lipid glycosylation
18.3.1    Disorders of glycosylphosphatidylinositol biosynthesis
Hyperphosphatasia-intellectual disability syndrome
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
PIGA-CDG
PIGA-related paroxysmal nocturnal hemoglobinuria
PIGC-CDG
PIGQ-CDG
PIGH-CDG
PIGP-CDG
PIGY-CDG
PIGL-CDG
PIGW-CDG
PIGM-CDG
PIGV-CDG
PIGN-CDG
Multiple congenital anomalies-hypotonia-seizures syndrome type 1
PIGB-CDG
PIGO-CDG
PIGF-CDG
PIGG-CDG
PIGT-CDG
PIGS-CDG
PIGU-CDG
PIGK-CDG
GPAA1-CDG
C18ORF32 deficiency
PGAP1-CDG
PGAP3-CDG
PGAP2-CDG
ARV1 deficiency
18.3.2    Other disorders of lipid glycosylation
ST3GAL5-CDG
B4GALNT1-CDG
ST3GAL3-CDG
A4GALT-CDG
18.4    Disorders of multiple glycosylation pathways
18.4.1    Disorders of dolichol metabolism
DHDDS-CDG
NUS1-CDG
SRD5A3-CDG
DOLK-CDG
DPM1-CDG
DPM2-CDG
DPM3-CDG
MPDU1-CDG
18.4.2    Disorders of Golgi transport
SLC35A1-CDG
SLC35A2-CDG
Isolated focal cortical dysplasia type Ia
SLC35A3-CDG
SLC35C1-CDG
Schneckenbecken dysplasia
18.4.3    Disorders of Golgi homeostasis
ATP6V0A2-CDG
ATP6V1A-CDG
ATP6V1E1-CDG
ATP6AP1-CDG
ATP6AP2-CDG
Isolated focal cortical dysplasia type Ia
TMEM199-CDG
CCDC115-CDG
VMA21-CDG
TMEM165-CDG
SLC9A7-CDG
18.4.4    Disorders of sialic acid metabolism
Nonaka myopathy
Severe autosomal recessive macrothrombocytopenia
Sialuria
N-acetylneuraminic acid-9-phosphate synthase deficiency
N-acetylneuraminate pyruvate lyase deficiency
18.4.5    Other disorders of multiple glycosylation pathways
GFPT1-CDG
PGM1-CDG
PGM3-CDG
GNPNAT1-CDG
GMPPA-CDG
GMPPB-CDG
UGDH-CDG
UGP2-CDG
18.5    Disorders of deglycosylation
NGLY1-CDDG
MAN2C1-CDDG
19    Disorders of organelle biogenesis, dynamics and interactions
19.1    Disorders of mitochondrial membrane biogenesis and remodeling
SERAC1 deficiency MEGDEL syndrome
CTP-DAG synthase deficiency
Cardiolipin synthase deficiency
PTPMT1 deficiency
Barth syndrome
Phosphatidylserine decarboxylase deficiency
PNPLA4 deficiency
PNPLA8 deficiency
MICOS complex subunit MIC13 deficiency
MICOS complex subunit MIC26 deficiency
CHCHD2 deficiency
CHCHD10 deficiency
Autosomal dominant mitochondrial myopathy with exercise intolerance
Lower motor neuron syndrome with late-adult onset
19.2    Disorders of mitochondrial and peroxisomal dynamics
Behr syndrome
Optic atrophy type 1
Costeff syndrome
Optic atrophy type 3
Mitofusin 2 deficiency
Axonal Charcot-Marie-Tooth type 2A2
Hereditary motor and sensory neuropathy type 5
Multiple symmetric lipomatosis
MSTO1 deficiency
MIEF2 deficiency
Dynamin-like protein 1 deficiency
Mitochondrial fission factor deficiency
Spartin deficiency
SPATA5 deficiency
GDAP1 deficiency
Axonal Charcot-Marie-Tooth type 2K
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Charcot-Marie-Tooth disease type 2H
Charcot-Marie-Tooth disease type 4A, demyelinating
STAT2 deficiency
UGO-1 like protein deficiency
Trafficking kinesin-binding protein 1 deficiency
19.3    Peroxisomal biogenesis disorders
Zellweger spectrum disorder
Zellweger syndrome
Neonatal adrenoleukodystrophy
Infantile Refsum disease
Heimler syndrome
Peroxin 1 deficiency
Peroxin 2 deficiency
PEX2-related autosomal recessive ataxia
Peroxin 3 deficiency
Peroxin 5 deficiency
PEX5 long isoform deficiency
Peroxin 6 deficiency
PEX6-related spinocerebellar ataxia-blindness-deafness syndrome
Peroxin 10 deficiency
PEX10-related autosomal recessive ataxia
Peroxin 11B deficiency
Peroxin 12 deficiency
Peroxin 13 deficiency
Peroxin 14 deficiency
Peroxin 16 deficiency
PEX16-related autosomal recessive ataxia
Peroxin 19 deficiency
Peroxin 26 deficiency
19.4    Disorders of lysosome-related organelle biogenesis
Mucopolysaccharidosis-plus syndrome
Arthrogryposis-renal dysfunction-cholestasis syndrome type 1
Hypomyelinating leukodystrophy type 12
Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome type 1
Hermansky-Pudlak syndrome type 3
Hermansky-Pudlak syndrome type 4
Hermansky-Pudlak syndrome type 5
Hermansky-Pudlak syndrome type 6
Hermansky-Pudlak syndrome type 7
Hermansky-Pudlak syndrome type 8
Hermansky-Pudlak syndrome type 9
Chediak-Higashi syndrome
Chediak-Higashi syndrome, attenuated form
Griscelli syndrome
Griscelli syndrome type 1
Griscelli syndrome type 2
Griscelli syndrome type 3
19.5    Disorders of organelle interplay
EMC1 deficiency
Acyl-CoA-binding domain-containing protein 5 deficiency
BAP31 deficiency
VAPB deficiency
COL4A3BP-related disease
Choreoacanthocytosis
Cohen syndrome
VPS13C deficiency
VPS13D deficiency
19.6    Disorders of vesicular trafficking
19.6.1    Disorders of the conserved oligomeric Golgi complex
Conserved oligomeric Golgi complex subunit 1 deficiency
Conserved oligomeric Golgi complex subunit 2 deficiency
Conserved oligomeric Golgi complex subunit 3 deficiency
Conserved oligomeric Golgi complex subunit 4 deficiency
Conserved oligomeric Golgi complex subunit 4 superactivity
Conserved oligomeric Golgi complex subunit 5 deficiency
Conserved oligomeric Golgi complex subunit 6 deficiency
Conserved oligomeric Golgi complex subunit 7 deficiency
Conserved oligomeric Golgi complex subunit 8 deficiency
19.6.2    Disorders of the transport protein particle (TRAPP)
Spondyloepiphyseal dysplasia tarda
TRAPPC2L deficiency
TRAPPC4 deficiency
TRAPPC6A deficiency
TRAPPC6B deficiency
TRAPPC9 deficiency
TRAPPC11 deficiency
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
TRAPPC12 deficiency
19.6.3    Disorders of the adaptor protein complexes
MEDNIK syndrome
AP1S2 deficiency
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
AP1S3 deficiency
Acrodermatitis continua of Hallopeau
Pustular psoriasis susceptibility
Pustulosis palmaris et plantaris
AP1B1 deficiency
AP1G1 deficiency
AP2S1 deficiency
AP2M1 deficiency
AP3B1 deficiency
Hermansky-Pudlak syndrome type 2
AP3B2 deficiency
AP3D1 deficiency
Hermansky-Pudlak syndrome type 10
X-linked recessive ocular albinism
Ocular albinism with late-onset sensorineural deafness
AP4B1 deficiency
AP4E1 deficiency
AP4M1 deficiency
AP4S1 deficiency
AP5Z1 deficiency
19.6.4    Other disorders of vesicular trafficking
STX5-CDG
CAMLG-CDG
GET3 deficiency
GET4 deficiency
Jagunal 1 deficiency
COPA deficiency
COPB2 deficiency
Archain 1 deficiency
Craniolenticulosutural dysplasia
Congenital dyserythropoietic anemia type 2
TRIP11-CDG
Achondrogenesis type 1A
ATP9A deficiency
GOSR2-CDG
VPS4A deficiency
VPS16 deficiency
VPS41
VPS45 deficiency
VPS51 deficiency
VPS53 deficiency
Syndetin deficiency
Arthrogryposis-renal dysfunction-cholestasis syndrome type 2
YIF1B deficiency
TANGO2 deficiency
NBAS deficiency
RINT1 deficiency
SCYL1 deficiency
SCYL2 deficiency
SCYL1-binding protein deficiency
Familial hemophagocytic lymphohistiocytosis
Familial hemophagocytic lymphohistiocytosis type 3
Familial hemophagocytic lymphohistiocytosis type 4
Familial hemophagocytic lymphohistiocytosis type 5
Golgin A2 deficiency
Syntaxin 16 deficiency
ARFGEF2 deficiency
p34 deficiency
Rubicon deficiency
Grey platelet syndrome
Combined factor V and factor VIII deficienc
Combined factor V and factor VIII deficiency type 1
Combined factor V and factor VIII deficiency type 2
Dymeclin deficiency
Carpenter syndrome
Warburg micro syndrome
Martsolf syndrome
RAB18 deficiency
RAB3GAP1 deficiency
RAB3GAP2 deficiency
Autosomal recessive spastic paraplegia type 69
RAB5 deficiency
RAB33B deficiency
20    Disorders of complex molecule degradation
20.1    Disorders of sphingolipid degradation
Gaucher disease
Gaucher disease, non-neuronopathic form
Gaucher disease, acute neuronopathic form
Gaucher disease, chronic neuronopathic form
Gaucher disease, chronic neuronopathic with cardiovascular calcifications
Gaucher disease, fetal
Acid sphingomyelinase deficiency ASMD
ASMD, infantile neurovisceral form
ASMD, chronic neurovisceral form
ASMD, viseral form
Neutral sphingomyelinase 3 deficiency
GM1 gangliosidosis
GM1 gangliosidosis type 1
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
GLB1-related Morquio syndrome
GM2 gangliosidosis
Tay-Sachs disease
Tay-Sachs disease, adult form
Tay-Sachs disease, infantile form
Tay-Sachs disease, juvenile form
Sandhoff disease
Sandhoff disease, adult form
Sandhoff disease, infantile form
Sandhoff disease, juvenile form
GM2 gangliosidosis infantile form
GM2 gangliosidosis late infantile/juvenile form
GM2 gangliosidosis chronic/adult form
Krabbe disease
Krabbe disease, infantile form
Krabbe disease, juvenile form
Krabbe disease, adult form
Metachromatic leukodystrophy
Metachromatic leukodystrophy, adult form
Metachromatic leukodystrophy, adult form
Metachromatic leukodystrophy, juvenile form
Multiple sulfatase deficiency
Fabry disease
Farber disease
Farber disease, primary neurologic phenotype
Farber disease, inflammatory phenotype
Saposin deficiency
Saposin A deficiency
Saposin B deficiency
Saposin C deficiency
Combined saposin deficiency
20.2    Disorders of glycosaminoglycan degradation
Alpha-iduronidase deficiency
Hurler syndrome
Hurler-Scheie syndrome
Scheie syndrome
Hunter syndrome
Hunter syndrome, severe form
Hunter syndrome, attenuated form
Sanfilippo syndrome
Sanfilippo syndrome type A
Sanfilippo syndrome type B
Autosomal dominant Charcot-Marie-Tooth disease type 2V
Sanfilippo syndrome type C
HGSNAT-related retinitis pigmentosa RP73
Sanfilippo syndrome type D
Morquio syndrome
Morquio syndrome type A
Maroteaux-Lamy syndrome
Maroteaux-Lamy syndrome, rapdly progressing
Maroteaux-Lamy syndrome, slowly progressing
Sly syndrome
Natowicz syndrome
Arylsulfatase K deficiency
Arylsulfatase G deficiency
20.3    Disorders of glycoprotein degradation/oligosaccharidoses
Sialidosis
Sialidosis type 1
Sialidosis type 2
Sialidosis type 2, congenital form
Sialidosis type 2, juvenile form
Galactosialidosis
Alpha-mannosidosis
Alpha-mannosidosis, infantile form
Alpha-mannosidosis, adult form
Beta-mannosidosis
Alpha-N-acetylgalactosaminidase deficiency
Schindler disease, type 1
Kanzaki disease
Schindler disease, type 3
Fucosidosis
Aspartylglucosaminuria
20.4    Neuronal ceroid lipofuscinoses (NCL)
Congenital NCL
Infantile NCL
Late infantile NCL
Juvenile NCL
Adult NCL
Palmitoyl-protein thioesterase 1 deficiency
Tripeptidyl-peptidase 1 deficiency
Autosomal recessive spinocerebellar ataxia type 7
CLN3 disease
CLN4 disease
CLN5 disease
CLN6 disease
CLN7 disease
Macular dystrophy with central cone involvement
CLN8 disease
Cathepsin D deficiency
Progranulin deficiency
Frontotemporal lobar degeneration with TDP-43 inclusions
ATP13A2 deficiency
Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
Cathepsin F deficiency
CLN14 disease
20.5    Disorders of autophagy
EPG5 deficiency
WDR45 deficiency
SNX14 deficiency
Spatacsin deficiency
Autosomal recessive spastic paraplegia type 11
Axonal Charcot-Marie-Tooth disease type 2X
Juvenile amyotrophic lateral sclerosis type 5
Spastizin deficiency
TECPR2 deficiency
TBK1 deficiency
RAB7 deficiency
ATG5 deficiency
ATG7 deficiency
TBCK deficiency
CHMP3 deficiency
WIPI2 deficiency
20.6    Mucolipidoses
Mucolipidosis type 3
I-cell disease
Pseudo-Hurler dystrophy
UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency
UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma deficiency
Mucolipin 1 deficiency
20.7    Cathepsin-related disorders
Pycnodysostosis
Papillon-Lefèvre syndrome
Haim-Munk syndrome
Keratolytic winter erythema
20.8    Other disorders of complex molecule degradation
Pompe disease
Pompe disease, infantile onset
Pompe disease, late onset
Danon disease
Glucocerebrosidase receptor deficiency
Niemann-Pick disease type C
NPC juvenile type
NPC late infantile type
NPC severe early type
NPC severe perinatal type
NPC adult type
Niemann-Pick disease type C1
Niemann-Pick disease type C2
Lysosomal acid lipase deficiency
Wolman disease
Cholesteryl ester storage disease
Site-1 protease deficiency
Dysostosis multiplex, Ain-Naz type
COFACTOR AND MINERAL METABOLISM
21    Disorders of vitamin and cofactor metabolism
21.1    Disorders of tetrahydrobiopterin metabolism
DOPA-responsive dystonia
DOPA-responsive dystonia, autosomal dominant
GTP cyclohydrolase 1 deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency
Sepiapterin reductase deficiency
Dihydropteridine reductase deficiency
Pterin-4-alpha-carbinolamine dehydratase deficiency 
PCBD1-related MODY
21.2    Disorders of thiamine metabolism
Thiamine transporter 1 deficiency
Thiamine transporter 2 deficiency
Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
Thiamine-responsive encephalopathy
Thiamine pyrophosphokinase deficiency
Mitochondrial thiamine pyrophosphate transporter deficiency
Progressive polyneuropathy with bilateral striatal necrosis
21.3    Disorders of riboflavin metabolism
Riboflavin transporter 1 deficiency
Riboflavin transporter 2 deficiency
Riboflavin transporter 3 deficiency
Flavin adenine dinucleotide synthetase deficiency
Mitochondrial flavin adenine dinucleotide transporter deficiency
21.4    Disorders of niacin and NAD metabolism
Nicotinamide mononucleotide adenylyl transferase 1 deficiency
NAD synthetase 1 deficiency
Mitochondrial NAD kinase 2 deficiency
NAD(P)HX dehydratase deficiency
NAD(P)HX epimerase deficiency
Nicotinamide nucleotide transhydrogenase deficiency
21.5    Disorders of pantothenate and CoA metabolism
Pantothenate kinase 2 deficiency
Pantothenate kinase 2 deficiency, classical form
Pantothenate kinase 2 deficiency atypical form
Phosphopantothenoylcysteine synthetase deficiency
Phosphopantothenoylcysteine decarboxylase deficiency
Coenzyme A synthase deficiency
Mitochondrial coenzyme A transporter deficiency
21.6    Disorders of pyridoxine metabolism
Pyridoxamine 5'-phosphate oxidase deficiency
Pyridoxal kinase deficiency
Pyridoxal 5'-phosphate binding protein deficiency
Hypophosphatasia
Hypophosphatasia, perinatal lethal
Hypophosphatasia, perinatal benign
Hypophosphatasia, infantile
Hypophosphatasia, childhood-onset
Hypophosphatasia, adult
Odontohypophosphatasia
Intestinal alkaline phosphatase anchoring deficiency
21.7    Disorders of biotin metabolism
Biotinidase deficiency
Holocarboxylase synthetase deficiency HLCS deficiency
Sodium-dependent multivitamin transporter deficiency
21.8    Disorders of folate metabolism
Proton-coupled folate transporter deficiency
Folate receptor alpha deficiency
Folate transporter 1 deficiency
Capicua deficiency
5,10-methylenetetrahydrofolate reductase deficiency MTHFR deficiency
MTHFR-related mild hyperhomocysteinemia
Methylenetetrahydrofolate dehydrogenase 1 deficiency CIMAH
5,10-methenyltetrahydrofolate synthetase deficiency MTHFS deficiency
Dihydrofolate reductase deficiency
Formimidoyltransferase cyclodeaminase deficiency
Mitochondrial 10-formyltetrahydrofolate dehydrogenase deficiency
21.9    Disorders of cobalamin metabolism
21.9.1    Disorders of cobalamin absorption and transport
Hereditary intrinsic factor deficiency
Imerslund-Gräsbeck disease
Cubilin deficiency
Amnionless deficiency
Haptocorrin deficiency
Transcobalamin II deficiency
Transcobalamin receptor deficiency
21.9.2    Disorders of intracellular cobalamin metabolism
Methylmalonic aciduria and homocystinuria, cblF type CblF disease
Methylmalonic aciduria and homocystinuria, cblJ type CblJ disease
Methylmalonic aciduria and homocystinuria, cblC type CblC disease
CcblC epimutation variant
Methylmalonic aciduria and homocystinuria, cblX type CblX disease
ZNF143 deficiency
Ronin deficiency
Methylmalonic aciduria and homocystinuria, cblD type CblD disease
CblD-homocystinuria
CblD-methylmalonic aciduria
Methylmalonic aciduria, cblA type CblA disease
Methylmalonic aciduria, cblB type CblB disease
Methionine synthase reductase deficiency CblE disease
21.10 Disorders of molybdenum cofactor metabolism
Cyclic pyranopterin monophosphate synthase deficiency
Molybdopterin synthase deficiency
Molybdopterin synthase sulfurase deficiency
Gephyrin deficiency
Molybdenum cofactor sulfurase deficiency
21.11 Other disorders of vitamin metabolism
Alpha-tocopherol transfer protein deficiency
Combined deficiency of vitamin K-dependent coagulation factors
Gamma-glutamyl carboxylase deficiency
GGCX-associated skin hyperlaxity and clotting factor deficiency
GGCX-associated skin manifestations with retinitis pigmentosa
Vitamin K epoxide reductase deficiency
Microsomal epoxide hydrolase deficiency
Menaquinone-4 synthetase deficiency
L-dehydroascorbate transporter deficiency GLUT10 deficiency
22    Disorders of trace elements and metals
22.1    Disorders of copper metabolism
Wilson disease
Menkes disease
Occipital horn syndrome
X-linked distal spinal muscular atrophy type 3
Copper transporter 1 deficiency
Acetyl-CoA transporter deficiency
Autosomal dominant spastic paraplegia type 42
Deficiency of copper chaperone for superoxide dismutase
22.2    Disorders of iron metabolism
Hemochromatosis
Digenic hemochromatosis
HFE-hemochromatosis
Hemojuvelin deficiency
Hepcidin deficiency
Transferrin receptor 2 deficiency
Ferroportin deficiency
SLC40A1-related hemochromatosis
BMP6 deficiency
Ferritin heavy chain dysregulation
FTL-related disease
Ferritin light chain deficiency
Neuroferritinopathy
Hyperferritinemia-cataract syndrome
Hyperferritinemia with iron overload
Hereditary ceruloplasmin deficiency
Matriptrase 2 deficiency
Hereditary transferrin deficiency
Transferrin receptor deficiency
Divalent metal transporter 1 deficiency
Endosomal ferrireductase deficiency
Hephaestin-like protein 1 deficiency
22.3    Disorders of manganese metabolism
Hypermanganesemia
Hypermanganesemia with dystonia type 1
Hypermanganesemia with dystonia type 2
Hyperostosis cranialis interna
22.4    Disorders of zinc metabolism
Acrodermatitis enteropathica
Transient neonatal zinc deficiency
SLC30A5-related perinatal lethal cardiomyopathy
SLC30A7 deficiency
SLC39A7 deficiency
Manganese and zinc transporter deficiency
Spondylosdysplastic Ehlers-Danlos syndrome type 3 spEDS-B4GALT7
Birk-Landau-Perez syndrome
Asymptomatic familial hyperzincemia
Hyperzincemia with hypercalprotectinemia
PAPA syndrome
22.5    Other disorders of trace element metabolism
Selenocysteine insertion sequence-binding protein 2 deficiency
O-phosphoseryl-tRNA(Sec) selenium transferase deficiency
METABOLIC CELL SIGNALING
23    Neurotransmitter disorders
23.1    Monoamine neurotransmission
Tyrosine hydroxylase deficiency
TH-related dopa-responsive dystonia
DNAJC12 deficiency
Aromatic L-amino acid decarboxylase deficiency
Dopamine beta-hydroxylase deficiency
Monoamine oxidase A deficiency
Monoamine oxidase B deficinecy
Dopamine transporter deficiency
Vesicular monoamine transporter 2 deficiency
Cytochrome b561 deficiency
Norepinephrine transporter deficiency
23.2    Gamma-aminobutyric acid neurotransmitter disorders
GABA transaminase deficiency
Succinic semialdehyde dehydrogenase deficiency
GABA type A receptor-related disorder
GABRA1-related neurodevelopmental disorder
GABRA3-related neurodevelopmental disorder
GABRA4-related neurodevelopmental disorder
GABRA6-related neurodevelopmental disorder
GABRB1-related neurodevelopmental disorder
GABRB2-related neurodevelopmental disorder
GABRB3-related neurodevelopmental disorder
GABRG2-related neurodevelopmental disorder
GABRD-related neurodevelopmental disorder
GABRR2-related neurodevelopmental disorder
23.3    Glutamate neurotransmitter disorders
Ionotropic glutamate receptor NMDA type subunit 1 dysregulation
Ionotropic glutamate receptor NMDA type subunit 2A dysregulation
Ionotropic glutamate receptor NMDA type subunit 2B dysregulation
Ionotropic glutamate receptor NMDA type subunit 2D superactivity
Ionotropic glutamate receptor AMPA type subunit 2 deficiency
Ionotropic glutamate receptor AMPA type subunit 3 deficiency
Ionotropic glutamate receptor AMPA type subunit 4 dysregulation
Ionotropic glutamate receptor delta type subunit 2 deficiency
Ionotropic glutamate receptor kainate type 2 deficiency
Thorase deficiency
Metabotropic glutamate receptor 1 deficiency
Metabotropic glutamate receptor 1 superactivity
Metabotropic glutamate receptor 6 deficiency
23.4    Glycine neurotransmitter disorders
Glycine transporter 1 deficiency
Glycine transporter 2 deficiency
Glycine receptor subunit alpha 1 deficiency
Glycine receptor subunit alpha 2 deficiency
Glycine receptor subunit beta deficiency
23.5    Disorders of acetycholine neurotransmission
Choline acetyltransferase deficiency
RIC3 acetylcholine receptor chaperone deficiency
Acetylcholine receptor subunit epsilon deficiency
23.6    Disorders of the synaptic vesicle cycle
TBC1D24 deficiency
DOORS syndrome
Progressive myoclonic epilepsy with dystonia
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
KIF1A deficiency
Autosomal spastic paraplegia type 30
Hereditary sensory and autonomic neuropathy type 2
KIF5A deficiency
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Autosomal dominant spastic paraplegia type 10
KIF5C deficiency
DYNC1H1 deficiency
Dynamin 1 deficiency
Dynamin 2 deficiency
Autosomal dominant centronuclear myopathy
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Fetal akinesia-cerebral and retinal hemorrhage syndrome
NAPB deficiency
PRRT2 deficiency
Rabenosyn 5 deficiency
SNAP25 deficiency
CEDNIK syndrome
Syntaxin-binding protein 1 deficiency
Synaptic vesicle glycoprotein 2A deficiency
Synaptobrevin 1 deficiency
Synaptobrevin 2 deficiency
Syntaxin 1A deficiency
Syntaxin 1B deficiency
Synapsin 1 deficiency
IL1RAPL1 deficiency
Paroxysmal nonkinesigenic dyskinesia type 1
Synaptotagmin 1 deficiency
Synaptotagmin 2 deficiency
Synaptotagmin 14 deficiency
Torsin 1A deficiency
LRRK2 deficiency
DNAJC6 deficiency
Clathrin heavy chain deficiency
SORCS receptor 3 deficiency
DLG4 deficiency
24    Endocrine metabolic disorders
24.1    Disorders of insulin metabolism
Isolated permanent neonatal diabetes mellitus
Maturity-onset diabetes of the young
Familial hyperinsulinism
KATP channel-related disease
KATP channel-related hyperinsulinism
KATP channel-related diabetes mellitus
SUR1-related disease
SUR1-related hyperinsulinisum
SUR1-related hyperinsulinisum, autosomal dominant
SUR1-related hyperinsulinisum, autosomal recessive
SUR1-related hyperinsulinisum, focal form
SUR1-related neonatal diabetes without neurologic features
SUR1-related developmental delay, epilepsy and neonatal diabetes SUR1-DEND
SUR1-related maturity-onset diabetes of the young MODY type 12
KCNJ11-related disease
KCNJ11-related hyperinsulinisum
KCNJ11-related hyperinsulinisum, autosomal dominant
KCNJ11-related hyperinsulinisum, autosomal recessive
KCNJ11-related hyperinsulinisum, focal form
KCNJ11-related neonatal diabetes without neurologic features
KCNJ11-related developmental delay, epilepsy and neonatal diabetes Kir6.2-DEND
KCNJ11-related maturity-onset diabetes of the young MODY type 13
HNF4A-related disease
HNF4A-related maturity-onset diabetes of the young MODY type 1
HNF4A-related atypical Fanconi syndrome
HNF4A-related hyperinsulinisum
HNF1A-related disease
HNF1A-related maturity-onset diabetes of the young MODY type 3
HNF1A-related hyperinsulinism
Hepatocyte nuclear factor-1 beta deficiency
Renal cysts and diabetes syndrome
Mayer-Rokitansky-Küster-Hauser syndrome type 2
Uncoupling protein 2 deficiency
INS-related disease
Primary congenital insulin deficiency
INS-related maturity-onset diabetes of the young MODY type 10
Proinsulin cleavage deficiency
INSR-related disease
Donohue syndrome
Rabson-Mendenhall syndrome
Insulin resistance type A
INSR-related hyperinsulinism
Insulin promoter factor 1 deficiency MODY type 4
PDX1-related partial pancreatic agenesis
Neurogenic differentiation factor 1 deficiency MODY type 6
Krüppel-like factor 11 deficiency MODY type 7
Carboxyl-ester lipase deficiency MODY type 8
PAX4 deficiency MODY type 9
BLK deficiency MODY type 11
APPL1 deficiency MODY type 14
AKT2-related disease
AKT2-related familial partial lipodystrophy
AKT2 superactivity
RFX6 deficiency
24.2    Disorders of steroid metabolism
Congenital adrenal hyperplasia
Pseudohypoaldosteronismus
Cholesterol side-chain cleavage enzyme deficiency
CYP11A1 deficiency, partial
3-beta-hydroxysteroid dehydrogenase deficiency
21-hydroxylase deficiency
21-hydroxylase deficiency, salt-wasting form
21-hydroxylase deficiency, virilizing form
CYP11B2-related disease
Corticosterone methyloxidase deficiency
Corticosterone methyloxidase deficiency type 1
Corticosterone methyloxidase deficiency type 2
Familial hyperaldosteronism type 1
11-beta-hydroxylase deficiency
11-beta-hydroxylase superactivity
17-alpha hydroxylase/17,20-lyase deficiency
CYP17A1-related DSD
Cortisone reductase deficiency
11-beta-hydroxysteroid dehydrogenase deficiency
Hexose-6-phosphate dehydrogenase deficiency
Androgen receptor deficiency
Androgen insensitivity, complete
Androgen insensitivity, partial
AR-related hypospadia
X-linked spinal and bulbar muscular atrophy
Steroidogenic acute regulatory protein deficiency STAR deficiency
STAR deficiency, classic form
STAR deficiency, non-classic form
Antley Bixler syndrome
Disordered steroidogenesis due to POR deficiency
Glucocorticoid receptor deficiency
Pseudohypoaldosteronism type 1
NR3C2-related disease
Mineralocorticoid receptor deficiency
Mineralocorticoid receptor superactivity
Epithelial sodium channel 1 deficiency
Epithelial sodium channel 1 alpha subunit deficiency
Epithelial sodium channel 1 beta subunit deficiency
Epithelial sodium channel 1 gamma subunit deficiency
Steroid-thyroid hormone receptor deficiency
ACTH receptor deficiency
Melanocortin-2 receptor accessory protein deficiency
Aromatase deficiency
Aromatase superactivity
Estrogen receptor deficiency
Estrogen receptor 2 deficiency
Progesterone receptor deficiency
17-beta-hydroxysteroid dehydrogenase deficiency
3-alpha-hydroxysteroid dehydrogenase type 3 deficiency
11-beta-hydroxysteroid dehydrogenase type 2 deficiency
Steroid 5-alpha-reductase 2 deficiency
Hydroxysteroid sulfotransferase deficiency
Steroid sulfatase deficiency
CLCN2-related disease
CLCN2-related leukoencephalopathy
Chloride channel 2 superactivity