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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620358
http://purl.bioontology.org/ontology/OMIM/620358
|
|---|---|
| Preferred Name | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A |
| Synonyms |
MC5DN4A
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MC5DN4A
|
|---|---|
| prefLabel | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A
|
| Gene Symbol |
ORM
ATP5F1A
COXPD22
ATP5A1
ATP5A
ATPM
MC5DN4B
MC5DN4A
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| Scope Statement | Variable disease course [MISCELLANEOUS]
Caused by mutation in the ATP synthase F1, subunit alpha gene (ATP5F1A, 164360.0003) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
Patients with the R207H mutation (164360.0003) have spontaneous remission of symptoms in childhood without persistent neurologic deficits [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 18q21.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 620358
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5830480
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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