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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/252010
http://purl.bioontology.org/ontology/OMIM/252010
|
|---|---|
| Preferred Name | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1 |
| Synonyms |
MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF
NADH-COENZYME Q REDUCTASE DEFICIENCY
NADH:Q(1) OXIDOREDUCTASE DEFICIENCY
MC1DN1
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF
NADH-COENZYME Q REDUCTASE DEFICIENCY
NADH:Q(1) OXIDOREDUCTASE DEFICIENCY
MC1DN1
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
|---|---|
| prefLabel | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1
|
| Gene Symbol |
NDUFS4
AQDQ
MC1DN1
|
| Scope Statement | Early death may occur [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Caused by mutation in the NADH-ubiquinone oxidoreductase subunit S4 gene (NDUFS4, 602694.0001) [MOLECULAR BASIS]
Variable phenotype [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 5q11.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 252010
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1838979
|
| Moved from | 312450
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |