Mitochondrial complex V (atp synthase) deficiency, nuclear type 4b

Preferred Label : Mitochondrial complex V (atp synthase) deficiency, nuclear type 4b;

Symbol : MC5DN4B;

CISMeF acronym : MC5DN4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mitochondrial complex V (atp synthase) deficiency, encephalopathic, atp5a1 type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATP synthase F1, alpha subunit gene (ATP5F1A, 164360.0001);

Laboratory abnormalities : Fibroblasts show decreased mitochondrial complex V activity; Decreased mitochondrial complex V assembly;

Prefixed ID : #615228;

Details

Origin ID

615228;

UMLS CUI

C3808899;

Currated CISMeF NLP mapping
- mitochondrial complex V (ATP synthase) deficiency nuclear type 4 [DO Concept]
DO Cross reference
- mitochondrial complex V (ATP synthase) deficiency nuclear type 4 [DO Concept]
Genes related to phenotype
- Atp synthase f1, subunit alpha [OMIM gene]
HPO term(s)
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Congenital onset [HPO term]
- Encephalopathy [HPO term]
- High-pitched cry [HPO term]
- Irritability [HPO term]
- Nystagmus [HPO term]
- Pulmonary hypoplasia [HPO term]
- Seizure [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 4 [DO Concept]

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