Combined oxidative phosphorylation deficiency 16

Preferred Label : Combined oxidative phosphorylation deficiency 16;

Symbol : COXPD16;

CISMeF acronym : COXPD16;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial ribosomal protein L44 gene (MRPL44, 611849.0001);

Laboratory abnormalities : Increased serum lactate (mild); Abnormal liver enzymes;

Prefixed ID : #615395;

Details

Origin ID

615395;

UMLS CUI

C3809339;

Currated CISMeF NLP mapping
- Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency [ORDO Disease]
- Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder) [SNOMED CT concept]
- combined oxidative phosphorylation deficiency 16 [DO Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 16 [DO Concept]
Genes related to phenotype
- Mitochondrial ribosomal protein l44 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Elevated hepatic transaminase [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Increased serum lactate [HPO term]
- Infantile onset [HPO term]
- Microvesicular hepatic steatosis [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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