Combined oxidative phosphorylation deficiency 15

Preferred Label : Combined oxidative phosphorylation deficiency 15;

Symbol : COXPD15;

CISMeF acronym : COXPD15;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial methionyl-tRNA formyltransferase gene (MTFMT, 611766.0001);

Laboratory abnormalities : Increased CSF lactate; Increased serum lactate (in some patients); Patient fibroblasts and muscle show decreased activities of mitochondrial complexes I, III, and IV; Impaired mitochondrial translation;

Prefixed ID : #614947;

Details

Origin ID

614947;

UMLS CUI

C4706313;

Currated CISMeF NLP mapping
- Combined oxidative phosphorylation defect type 15 [ORDO Disease]
- Combined oxidative phosphorylation defect type 15 (disorder) [SNOMED CT concept]
- combined oxidative phosphorylation deficiency 15 [DO Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 15 [DO Concept]
Genes related to phenotype
- Mitochondrial methionyl-trna formyltransferase [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Abnormal pyramidal sign [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cognitive impairment [HPO term]
- Delayed speech and language development [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Incoordination [HPO term]
- Increased CSF lactate [HPO term]
- Increased serum lactate [HPO term]
- Microcephaly [HPO term]
- Nystagmus [HPO term]
- Obesity [HPO term]
- Optic atrophy [HPO term]
- Reduced visual acuity [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Strabismus [HPO term]
- Tremor [HPO term]
- Unsteady gait [HPO term]
- Ventricular septal defect [HPO term]
- Ventricular septal hypertrophy [HPO term]
- Visual impairment [HPO term]
- Wolff-Parkinson-White syndrome [HPO term]
ORDO concept(s)
- Combined oxidative phosphorylation defect type 15 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined oxidative phosphorylation defect type 15 [ORDO Disease]
- Combined oxidative phosphorylation defect type 15 (disorder) [SNOMED CT concept]

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