Combined oxidative phosphorylation deficiency 22

Preferred Label : Combined oxidative phosphorylation deficiency 22;

Symbol : COXPD22;

CISMeF acronym : COXPD22;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATP synthase F1, alpha subunit gene (ATP5F1A, 164360.0002);

Laboratory abnormalities : Increased serum alanine;

Prefixed ID : #616045;

Details

Origin ID

616045;

UMLS CUI

C4015062;

Currated CISMeF NLP mapping
- combined oxidative phosphorylation deficiency 22 [DO Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 22 [DO Concept]
Genes related to phenotype
- Atp synthase f1, subunit alpha [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Congestive heart failure [HPO term]
- Encephalopathy [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Hyperalaninemia [HPO term]
- Hypotonia [HPO term]
- Intrauterine growth retardation [HPO term]
- Microcephaly [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Isolated ATP synthase deficiency [ORDO Disease]
See also inter- (CISMeF)
- Isolated ATP synthase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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