Mitochondrial complex V (atp synthase) deficiency, nuclear type 6

Preferred Label : Mitochondrial complex V (atp synthase) deficiency, nuclear type 6;

Symbol : MC5DN6;

CISMeF acronym : MC5DN6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the upregulated during skeletal muscle growth 5, mouse, homolog of, gene (USMG5, 615204.0001);

Laboratory abnormalities : Decreased ATP production in patient fibroblasts; Normal mitochondrial respiratory enzyme activity in patient fibroblasts;

Prefixed ID : #618683;

Détails

Origin ID

618683;

UMLS CUI

C5231461;

Automatic exact mappings (from CISMeF team)
- mitochondrial complex V (ATP synthase) deficiency nuclear type 6 [DO Concept]
DO Cross reference
- mitochondrial complex V (ATP synthase) deficiency nuclear type 6 [DO Concept]
Genes related to phenotype
- Atp synthase membrane subunit dapit [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bradykinesia [HPO term]
- Chorea [HPO term]
- Death in childhood [HPO term]
- Developmental regression [HPO term]
- Hyperreflexia [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Lethargy [HPO term]
- Ophthalmoplegia [HPO term]
ORDO concept(s)
- Isolated ATP synthase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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