Details of Disease | DrugMAP

General Information of Disease (ID: DIS9QKN7)

Disease Name	Acyl-CoA dehydrogenase 9 deficiency
Synonyms	acyl-CoA dehydrogenase 9 deficiency; ACAD9 deficiency; mitochondrial complex I deficiency due to ACAD9 deficiency; mitochondrial complex I deficiency, nuclear type 20
Definition	A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.
Disease Hierarchy	DISA6JBV: Disorder of fatty acid oxidation and ketogenesis DIS9QKN7: Acyl-CoA dehydrogenase 9 deficiency
Disease Identifiers	MONDO ID MONDO_0012624 UMLS CUI C4747517 OMIM ID 611126 MedGen ID 1648400 Orphanet ID 99901

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
ACAD9	OT4HITJ6	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.