Details of Disease | DrugMAP

General Information of Disease (ID: DIS0BPTI)

Disease Name	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Synonyms	COQ10D2; coenzyme Q10 deficiency, primary, 2; hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome; coenzyme Q10 deficiency, primary, type 2
Definition	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.
Disease Hierarchy	DIS1HGDF: Coenzyme Q10 deficiency DIS0BPTI: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Disease Identifiers	MONDO ID MONDO_0013837 UMLS CUI C3553354 OMIM ID 614651 MedGen ID 766268 Orphanet ID 254898

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
PDSS1	OTXGVHAB	Strong	Autosomal recessive	[1]
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References

1	Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest. 2007 Mar;117(3):765-72. doi: 10.1172/JCI29089.