Details of Disease | DrugMAP

General Information of Disease (ID: DISBJ31P)

Disease Name	3-hydroxyacyl-CoA dehydrogenase deficiency
Disease Hierarchy	DISA6JBV: Disorder of fatty acid oxidation and ketogenesis DISBJ31P: 3-hydroxyacyl-CoA dehydrogenase deficiency
Disease Identifiers	MONDO ID MONDO_0017715 MESH ID C535310 UMLS CUI C1291230 OMIM ID 231530 MedGen ID 266222 Orphanet ID 309127 SNOMED CT ID 124122005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CFHR1	OT72R16T	Strong	Biomarker	[1]
HADH	OTJDOL20	Definitive	Autosomal recessive	[2]
------------------------------------------------------------------------------------

References

1	Indications of underdiagnosis of atypical haemolytic uraemic syndrome in a cohort referred to the Coagulation Unit in Malmo, Sweden, for analysis of ADAMTS13 2007-2012.Nephrology (Carlton). 2017 Jul;22(7):555-561. doi: 10.1111/nep.12818.
2	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.