Combined oxidative phosphorylation deficiency 4

Preferred Label : Combined oxidative phosphorylation deficiency 4;

Symbol : COXPD4;

CISMeF acronym : COXPD4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial Tu translation elongation factor gene (TUFM, 602389.0001);

Laboratory abnormalities : Hyperammonemia; Increased serum lactate;

Prefixed ID : #610678;

Details

Origin ID

610678;

UMLS CUI

C1857682;

Currated CISMeF NLP mapping
- Combined oxidative phosphorylation defect type 4 [ORDO Disease]
- Combined oxidative phosphorylation defect type 4 (disorder) [SNOMED CT concept]
- Combined oxidative phosphorylation deficiency type 4 [ICD-11 More detail]
- combined oxidative phosphorylation deficiency 4 [DO Concept]
- combined oxidative phosphorylation deficiency 4 [MeSH concept]
- combined oxidative phosphorylation deficiency 4 [MeSH Supplementary Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 4 [DO Concept]
Genes related to phenotype
- Tu translation elongation factor, mitochondrial [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Death in infancy [HPO term]
- Developmental regression [HPO term]
- Encephalopathy [HPO term]
- Hepatomegaly [HPO term]
- Hyperammonemia [HPO term]
- Increased serum lactate [HPO term]
- Infantile onset [HPO term]
- Intrauterine growth retardation [HPO term]
- Lactic acidosis [HPO term]
- Leukodystrophy [HPO term]
- Metabolic acidosis [HPO term]
- Microcephaly [HPO term]
- Neonatal hypotonia [HPO term]
- Nystagmus [HPO term]
- Opisthotonus [HPO term]
- Polymicrogyria [HPO term]
- Respiratory failure [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Combined oxidative phosphorylation defect type 4 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined oxidative phosphorylation defect type 4 [ORDO Disease]
- Combined oxidative phosphorylation defect type 4 (disorder) [SNOMED CT concept]
- Combined oxidative phosphorylation deficiency type 4 [ICD-11 More detail]
- combined oxidative phosphorylation deficiency 4 [MeSH Supplementary Concept]
- combined oxidative phosphorylation deficiency 4 [MeSH concept]
- combined oxidative phosphorylation deficiency 4 [DO Concept]

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