Combined oxidative phosphorylation deficiency 3

Preferred Label : Combined oxidative phosphorylation deficiency 3;

Symbol : COXPD3;

CISMeF acronym : COXPD3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Encephalomyopathy, respiratory failure, and lactic acidosis; Concentric cardiomyopathy, hypotonia, and lactic acidosis;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial Ts translation elongation factor gene (TSFM, 604723.0001);

Laboratory abnormalities : Increased serum lactate; Increased serum creatine kinase; Increased serum ketones; Increased serum ammonia; Decreased activity of mitochondrial respiratory complexes I, III, and IV;

Prefixed ID : #610505;

Détails

Origin ID

610505;

UMLS CUI

C1864840;

Currated CISMeF NLP mapping
- Combined oxidative phosphorylation deficiency type 3 [ICD-11 More detail]
- Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 [ORDO Disease]
- Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (disorder) [SNOMED CT concept]
- combined oxidative phosphorylation deficiency 3 [Disease (Nov.)]
- combined oxidative phosphorylation deficiency 3 [DO Concept]
- combined oxidative phosphorylation deficiency 3 [MeSH concept]
- combined oxidative phosphorylation deficiency 3 [MeSH Supplementary Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 3 [DO Concept]
Genes related to phenotype
- Ts translation elongation factor, mitochondrial [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cognitive impairment [HPO term]
- Concentric hypertrophic cardiomyopathy [HPO term]
- Death in childhood [HPO term]
- Decreased activity of mitochondrial complex I [HPO term]
- Decreased activity of mitochondrial complex III [HPO term]
- Decreased activity of mitochondrial complex IV [HPO term]
- Decreased fetal movement [HPO term]
- Dilated cardiomyopathy [HPO term]
- Dystonia [HPO term]
- Early death [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Encephalopathy [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Increased serum lactate [HPO term]
- Intrauterine growth retardation [HPO term]
- Lactic acidosis [HPO term]
- Muscle weakness [HPO term]
- Neonatal hypotonia [HPO term]
- Optic atrophy [HPO term]
- Optic neuropathy [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency [HPO term]
- Rhabdomyolysis [HPO term]
- Seizure [HPO term]
- Tremor [HPO term]
- Ventriculomegaly [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 [ORDO Disease]
- combined oxidative phosphorylation deficiency 3 [MeSH Supplementary Concept]
- combined oxidative phosphorylation deficiency 3 [MeSH concept]
- combined oxidative phosphorylation deficiency 3 [Disease (Nov.)]
- combined oxidative phosphorylation deficiency 3 [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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