Combined oxidative phosphorylation deficiency 39

Preferred Label : Combined oxidative phosphorylation deficiency 39;

Symbol : COXPD39;

CISMeF acronym : COXPD39;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial elongation factor G2 gene (GFM2, 606544.0001);

Laboratory abnormalities : Increased CSF lactate; Increased serum lactate; Decreased mitochondrial respiratory chain activities, variable, in multiple tissues;

Prefixed ID : #618397;

Details

Origin ID

618397;

UMLS CUI

C5193075;

Currated CISMeF NLP mapping
- Combined oxidative phosphorylation defect type 39 [ORDO Disease]
- Combined oxidative phosphorylation defect type 39 (disorder) [SNOMED CT concept]
- combined oxidative phosphorylation deficiency 39 [DO Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 39 [DO Concept]
Genes related to phenotype
- Mitochondrial elongation factor g2 [OMIM gene]
HPO term(s)
- Abnormal cerebellum morphology [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delayed speech and language development [HPO term]
- Developmental regression [HPO term]
- Drooling [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Flexion contracture [HPO term]
- Global developmental delay [HPO term]
- Hypsarrhythmia [HPO term]
- Increased CSF lactate [HPO term]
- Increased serum lactate [HPO term]
- Intrauterine growth retardation [HPO term]
- Involuntary movements [HPO term]
- Microcephaly [HPO term]
- Myopathic facies [HPO term]
- Pachygyria [HPO term]
- Simplified gyral pattern [HPO term]
- Spasticity [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Combined oxidative phosphorylation defect type 39 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined oxidative phosphorylation defect type 39 (disorder) [SNOMED CT concept]

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