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Diseases
METABOLISM OF HETEROCYCLIC COMPOUNDS
16 Disorders of nucleobase, nucleotide and nucleic acid metabolism
16.2 Disorders of purine metabolism
PRPS1-related disease
Phosphoribosylaminoimidazole carboxylase deficiency
Adenylosuccinate lyase deficiency
AICAR transformylase/IMP cyclohydrolase deficiency
Myoadenylate deaminase deficiency
Adenosine monophosphate deaminase 2 deficiency
Erythrocyte adenosine monophosphate deaminase 3 deficiency
Adenosine kinase deficiency
Adenosine deaminase 1 deficiency
Adenosine deaminase 2 deficiency
Purine nucleoside phosphorylase deficiency
FAMIN deficiency
Xanthine oxidase deficiency
Lesch-Nyhan 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
Inosine-5'-monophosphate dehydrogenase type 2 deficiency
Thiopurine methyltransferase deficiency
NUDT15 deficiency
Inosine triphosphatase deficiency
Hereditary renal hypouricemia
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
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Home
Diseases
METABOLISM OF HETEROCYCLIC COMPOUNDS
16 Disorders of nucleobase, nucleotide and nucleic acid metabolism
16.2 Disorders of purine metabolism
PRPS1-related disease
Phosphoribosylaminoimidazole carboxylase deficiency
Adenylosuccinate lyase deficiency
AICAR transformylase/IMP cyclohydrolase deficiency
Myoadenylate deaminase deficiency
Adenosine monophosphate deaminase 2 deficiency
Erythrocyte adenosine monophosphate deaminase 3 deficiency
Adenosine kinase deficiency
Adenosine deaminase 1 deficiency
Adenosine deaminase 2 deficiency
Purine nucleoside phosphorylase deficiency
FAMIN deficiency
Xanthine oxidase deficiency
Lesch-Nyhan 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
Inosine-5'-monophosphate dehydrogenase type 2 deficiency
Thiopurine methyltransferase deficiency
NUDT15 deficiency
Inosine triphosphatase deficiency
Hereditary renal hypouricemia
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
Phosphoribosylaminoimidazole carboxylase deficiency
Type
Disease
External link(s)
IEMbase
Gene
PAICS
/ Multifunctional Phosphoribosyl Transferase Domain Containing
4q12
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase
Disease group(s)
16.2 Disorders of purine metabolism