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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/201475
http://purl.bioontology.org/ontology/OMIM/201475
|
|---|---|
| Preferred Name | ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF |
| Synonyms |
ACADVLD
VLCAD DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ACADVLD
VLCAD DEFICIENCY
|
|---|---|
| prefLabel | ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
|
| Gene Symbol |
VLCAD
ACADVL
|
| Scope Statement | Three main clinical forms [MISCELLANEOUS]
Mild adult form, with onset after age 13 years, no cardiac involvement, and restricted to muscle involvement with rhabdomyolysis [MISCELLANEOUS]
Severe, early-onset, usually within the first days of life, with cardiomyopathy and early death [MISCELLANEOUS]
Milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia [MISCELLANEOUS]
Caused by mutation in the very long-chain acyl-CoA dehydrogenase gene (ACAVLD, 609575.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 17p13
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 201475
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3887523
|
| Moved from | 201460
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| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |