Combined oxidative phosphorylation deficiency 33

Preferred Label : Combined oxidative phosphorylation deficiency 33;

Symbol : COXPD33;

CISMeF acronym : COXPD33;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the complement component C1q-binding protein gene (C1QBP, 601269.0001);

Laboratory abnormalities : Combined deficiency of mitochondrial respiratory complex activity, variable; Increased serum creatine kinase; mtDNA depletion (in some patients); Increased serum lactate; Abnormal liver enzymes (in some patients);

Prefixed ID : #617713;

Détails

Origin ID

617713;

UMLS CUI

C4540209;

Currated CISMeF NLP mapping
- Combined Oxidative Phosphorylation Deficiency 33 [NCIt concept]
- combined oxidative phosphorylation deficiency 33 [DO Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 33 [DO Concept]
Genes related to phenotype
- Complement component c1q-binding protein [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Amblyopia [HPO term]
- Astigmatism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomegaly [HPO term]
- Cardiomyopathy [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Exercise intolerance [HPO term]
- Fatigue [HPO term]
- Hepatomegaly [HPO term]
- Hypothyroidism [HPO term]
- Increased serum lactate [HPO term]
- Left ventricular hypertrophy [HPO term]
- Metabolic acidosis [HPO term]
- Myopathy [HPO term]
- Nephrotic syndrome [HPO term]
- Oligohydramnios [HPO term]
- Progressive external ophthalmoplegia [HPO term]
- Ptosis [HPO term]
- Sensorineural hearing impairment [HPO term]
See also inter- (CISMeF)
- C1QBP wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined Oxidative Phosphorylation Deficiency 33 [NCIt concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients