Details of Disease | DrugMAP

General Information of Disease (ID: DIS2PUTA)

Disease Name	Coenzyme Q10 deficiency, primary, 3
Synonyms	COQ10D3; coenzyme Q10 deficiency caused by mutation in PDSS2; coenzyme Q10 deficiency, primary, type 3; PDSS2 coenzyme Q10 deficiency; coenzyme Q10 deficiency, primary, 3
Definition	Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene.
Disease Hierarchy	DIS1HGDF: Coenzyme Q10 deficiency DIS2PUTA: Coenzyme Q10 deficiency, primary, 3
Disease Identifiers	MONDO ID MONDO_0013838 UMLS CUI C3553358 OMIM ID 614652 MedGen ID 766272

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
PDSS2	OTEOQBMX	Definitive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet. 2006 Dec;79(6):1125-9. doi: 10.1086/510023. Epub 2006 Oct 27.