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Diseases
INTERMEDIARY METABOLISM: ENERGY
8 Disorders of mitochondrial cofactor biosynthesis
8.2 Disorders of lipoic acid and iron-sulfur metabolism
Multiple mitochondrial dysfunctions syndrome
Lipoyltransferase 2 deficiency
Lipoic acid synthase deficiency
Lipoyltransferase 1 deficiency
NFU1 deficiency
BOLA3 deficiency
Glutaredoxin 5 deficiency
IBA57 deficiency
ISCA1 deficiency
ISCA2 deficiency
ISCU deficiency
ABCB7 deficiency
Ferredoxin reductase deficiency
Ferredoxin 2 deficiency
NFS1-ISD11 complex deficiency
Friedreich ataxia
Genes
Gene products
Pathways
Multimers
More information
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Home
Diseases
INTERMEDIARY METABOLISM: ENERGY
8 Disorders of mitochondrial cofactor biosynthesis
8.2 Disorders of lipoic acid and iron-sulfur metabolism
Multiple mitochondrial dysfunctions syndrome
Lipoyltransferase 2 deficiency
Lipoic acid synthase deficiency
Lipoyltransferase 1 deficiency
NFU1 deficiency
BOLA3 deficiency
Glutaredoxin 5 deficiency
IBA57 deficiency
ISCA1 deficiency
ISCA2 deficiency
ISCU deficiency
ABCB7 deficiency
Ferredoxin reductase deficiency
Ferredoxin 2 deficiency
NFS1-ISD11 complex deficiency
Friedreich ataxia
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
ABCB7 deficiency
Synonym(s)
Sideroblastic anemia and spinocerebellar ataxia
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
ABCB7
/ ATP Binding Cassette Subfamily B Member 7
Xq13.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
ATP-binding cassette sub-family B member 7, mitochondrial
Disease group(s)
8.2 Disorders of lipoic acid and iron-sulfur metabolism