Details of Disease | DrugMAP

General Information of Disease (ID: DIS4PEKG)

Disease Name	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Synonyms	COQ10D7; coenzyme Q10 deficiency, primary, 7; primary coenzyme Q10 deficiency 7; COQ4-related neonatal encephalomyopathy; coenzyme Q10 deficiency, primary, type 7
Disease Hierarchy	DIS1HGDF: Coenzyme Q10 deficiency DIS4PEKG: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Disease Identifiers	MONDO ID MONDO_0014562 UMLS CUI C5568562 OMIM ID 616276 MedGen ID 1799985 Orphanet ID 457185 SNOMED CT ID 1186718008

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
COQ4	OTIU7FAZ	Strong	Autosomal recessive	[1]
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References

1	COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. Am J Hum Genet. 2015 Feb 5;96(2):309-17. doi: 10.1016/j.ajhg.2014.12.023.