Details of Disease

General Information of Disease (ID: DISXLOZD)

Disease Name Combined oxidative phosphorylation defect type 27
Synonyms
CARS2 combined oxidative phosphorylation deficiency; combined oxidative phosphorylation deficiency caused by mutation in CARS2; combined oxidative phosphorylation deficiency 27; combined oxidative phosphorylation deficiency type 27; COXPD27
Definition Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene.
Disease Hierarchy
DISG5MW9: Combined oxidative phosphorylation deficiency
DISXLOZD: Combined oxidative phosphorylation defect type 27
Disease Identifiers
MONDO ID
MONDO_0014728
UMLS CUI
C5567608
OMIM ID
616672
MedGen ID
1799031
Orphanet ID
477774
SNOMED CT ID
1172844009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CARS2 OTGLZOFP Strong Autosomal recessive [1]
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References

1 A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. Neurology. 2014 Dec 2;83(23):2183-7. doi: 10.1212/WNL.0000000000001055. Epub 2014 Oct 31.