vlcad deficiency Gene Set
| Dataset |
OMIM Gene-Disease Associations
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| Category |
disease or phenotype associations
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| Type |
phenotype |
| Description |
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis. (Orphanet Rare Disease Ontology, Orphanet_26793)
|
| External Link |
http://www.omim.org/entry/201475
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| Similar Terms |
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| Downloads & Tools |
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Genes
1 genes associated with the vlcad deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
| Symbol |
Name |
|
ACADVL
|
acyl-CoA dehydrogenase, very long chain
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