Mitochondrial complex V (atp synthase) deficiency, nuclear type 3

Preferred Label : Mitochondrial complex V (atp synthase) deficiency, nuclear type 3;

Symbol : MC5DN3;

CISMeF acronym : MC5DN3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mitochondrial complex V (atp synthase) deficiency, atp5e type;

Prefixed ID : #614053;

Details

Origin ID

614053;

UMLS CUI

C3279708;

Automatic exact mappings (from CISMeF team)
- ATP5F1E wt Allele [NCIt concept]
- Isolated ATP synthase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- mitochondrial complex V (ATP synthase) deficiency nuclear type 3 [DO Concept]
DO Cross reference
- mitochondrial complex V (ATP synthase) deficiency nuclear type 3 [DO Concept]
Genes related to phenotype
- Atp synthase f1, subunit epsilon [OMIM gene]
HPO term(s)
- 3-Methylglutaconic aciduria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased activity of mitochondrial ATP synthase complex [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Intellectual disability [HPO term]
- Lactic acidosis [HPO term]
- Peripheral neuropathy [HPO term]
ORDO concept(s)
- Isolated ATP synthase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mitochondrial complex V (ATP synthase) deficiency nuclear type 3 [DO Concept]

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