Combined oxidative phosphorylation deficiency 24

Preferred Label : Combined oxidative phosphorylation deficiency 24;

Symbol : COXPD24;

CISMeF acronym : COXPD24;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the asparaginyl-tRNA synthetase 2 gene (NARS2, 612803.0001);

Laboratory abnormalities : Increased serum lactate, variable; Increased CSF lactate, variable; Increased urinary excretion of citric acid metabolites, variable;

Prefixed ID : #616239;

Details

Origin ID

616239;

UMLS CUI

C4015643;

Currated CISMeF NLP mapping
- Combined oxidative phosphorylation defect type 24 [ORDO Disease]
- Combined oxidative phosphorylation defect type 24 (disorder) [SNOMED CT concept]
- combined oxidative phosphorylation deficiency 24 [DO Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 24 [DO Concept]
Genes related to phenotype
- Asparaginyl-trna synthetase 2 [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- CNS hypomyelination [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral visual impairment [HPO term]
- Developmental regression [HPO term]
- Dysarthria [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Facial palsy [HPO term]
- Feeding difficulties [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Generalized hypotonia [HPO term]
- Gliosis [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Increased CSF lactate [HPO term]
- Increased serum lactate [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, mild [HPO term]
- Metabolic alkalosis [HPO term]
- Microcephaly [HPO term]
- Muscle weakness [HPO term]
- Myopathy [HPO term]
- Neurodegeneration [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Proximal muscle weakness [HPO term]
- Ptosis [HPO term]
- Seizure [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spasticity [HPO term]
- Status epilepticus [HPO term]
ORDO concept(s)
- Combined oxidative phosphorylation defect type 24 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined oxidative phosphorylation defect type 24 (disorder) [SNOMED CT concept]

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