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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/201450
http://purl.bioontology.org/ontology/OMIM/201450
|
|---|---|
| Preferred Name | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF |
| Synonyms |
CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY
MCAD DEFICIENCY
ACADMD
MCADH DEFICIENCY
ACADM DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY
MCAD DEFICIENCY
ACADMD
MCADH DEFICIENCY
ACADM DEFICIENCY
|
|---|---|
| prefLabel | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF
|
| Gene Symbol |
MCAD
ACADM
|
| Scope Statement | Most common disorder of fatty acid oxidation (1/13,000 births) [MISCELLANEOUS]
Onset precipitated by fasting or illness [MISCELLANEOUS]
Clinical presentation varies from asymptomatic to fulminant course [MISCELLANEOUS]
Caused by mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene (ACADM, 607008.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 1p31
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 201450
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0220710
|
| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |