Combined oxidative phosphorylation deficiency 27

Preferred Label : Combined oxidative phosphorylation deficiency 27;

Symbol : COXPD27;

CISMeF acronym : COXPD27;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cysteinyl-tRNA synthetase 2 gene (CARS2, 612800.0001);

Laboratory abnormalities : Increased serum lactate (in some patients);

Prefixed ID : #616672;

Details

Origin ID

616672;

UMLS CUI

C5567608;

Automatic exact mappings (from CISMeF team)
- CARS2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Combined Oxidative Phosphorylation Deficiency 27 [NCIt concept]
- Combined oxidative phosphorylation defect type 27 [ORDO Disease]
- Combined oxidative phosphorylation defect type 27 (disorder) [SNOMED CT concept]
- combined oxidative phosphorylation deficiency 27 [DO Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 27 [DO Concept]
Genes related to phenotype
- Cysteinyl-trna synthetase 2 [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral atrophy [HPO term]
- Chorea [HPO term]
- Dystonia [HPO term]
- Epileptic encephalopathy [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Increased serum lactate [HPO term]
- Microcephaly [HPO term]
- Microvesicular hepatic steatosis [HPO term]
- Multifocal epileptiform discharges [HPO term]
- Myoclonus [HPO term]
- Opisthotonus [HPO term]
- Secondary microcephaly [HPO term]
- Severe muscular hypotonia [HPO term]
- Status epilepticus [HPO term]
- Tetraparesis [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Combined oxidative phosphorylation defect type 27 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined Oxidative Phosphorylation Deficiency 27 [NCIt concept]
- Combined oxidative phosphorylation defect type 27 (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients