Combined oxidative phosphorylation deficiency 36

Preferred Label : Combined oxidative phosphorylation deficiency 36;

Symbol : COXPD36;

CISMeF acronym : COXPD36;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial ribosomal protein S2 gene (MRPS2, 611971.0001);

Laboratory abnormalities : 2-oxoglutaric aciduria; Increased excretion of Krebs cycle intermediates; Variably decreased activities of mitochondrial respiratory complexes I, III, and IV in different tissues; Increased lactate; Increased alanine;

Prefixed ID : #617950;

Details

Origin ID

617950;

UMLS CUI

C4693722;

Currated CISMeF NLP mapping
- combined oxidative phosphorylation deficiency 36 [DO Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 36 [DO Concept]
Genes related to phenotype
- Mitochondrial ribosomal protein s2 [OMIM gene]
HPO term(s)
- Aciduria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypoglycemia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Nonprogressive [HPO term]
- Poor speech [HPO term]
- Sensorineural hearing impairment [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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