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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618683
http://purl.bioontology.org/ontology/OMIM/618683
|
|---|---|
| Preferred Name | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6 |
| Synonyms |
MC5DN6
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MC5DN6
|
|---|---|
| prefLabel | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6
|
| Gene Symbol |
ATP5MD
USMG5
MC5DN6
DAPIT
|
| Scope Statement | Three families of Ashkenazi Jewish descent have been reported (last curated November 2019) [MISCELLANEOUS]
Episodic regression is associated with illness, stress, fever, or general anesthesia [MISCELLANEOUS]
Onset in first years of life [MISCELLANEOUS]
Death in childhood may occur [MISCELLANEOUS]
Caused by mutation in the upregulated during skeletal muscle growth 5, mouse, homolog of, gene (USMG5, 615204.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 10q24
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 618683
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5231461
|
| 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 |