Combined oxidative phosphorylation deficiency 8

Preferred Label : Combined oxidative phosphorylation deficiency 8;

Symbol : COXPD8;

CISMeF acronym : COXPD8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cardiomyopathy, hypertrophic mitochondrial, fatal infantile;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alanyl-tRNA synthetase 2 gene (AARS2, 612035.0001);

Laboratory abnormalities : Increased serum lactate; Decreased mitochondrial respiratory complexes I, III, and IV in brain, heart, and skeletal muscle;

Prefixed ID : #614096;

Details

Origin ID

614096;

UMLS CUI

C4518839;

Automatic exact mappings (from CISMeF team)
- AARS2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Combined Oxidative Phosphorylation Deficiency 8 [NCIt concept]
- Combined oxidative phosphorylation defect type 8 [ORDO Disease]
- Combined oxidative phosphorylation defect type 8 (disorder) [SNOMED CT concept]
- combined oxidative phosphorylation deficiency 8 [DO Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 8 [DO Concept]
Genes related to phenotype
- Alanyl-trna synthetase 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Death in infancy [HPO term]
- EEG abnormality [HPO term]
- Failure to thrive [HPO term]
- Generalized muscle weakness [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Increased serum lactate [HPO term]
- Lactic acidosis [HPO term]
- Pulmonary hypoplasia [HPO term]
ORDO concept(s)
- Combined oxidative phosphorylation defect type 8 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined Oxidative Phosphorylation Deficiency 8 [NCIt concept]
- Combined oxidative phosphorylation defect type 8 [ORDO Disease]
- Combined oxidative phosphorylation defect type 8 (disorder) [SNOMED CT concept]

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