Details of Disease | DrugMAP

General Information of Disease (ID: DISY0P6K)

Disease Name	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Disease Hierarchy	DISUXA08: Inborn disorder of bile acid synthesis DISC06IX: Familial hypercholesterolemia DISY0P6K: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Disease Identifiers	MONDO ID MONDO_0016203 UMLS CUI C4751204 MedGen ID 1653798 Orphanet ID 209902 SNOMED CT ID 773726000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP7A1	DEDZRQ1	Limited	Biomarker	[1]
CYP7A1	DEDZRQ1	Supportive	Semidominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CYP7A1	OT8Z5KLD	Supportive	Semidominant	[2]
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References

1	Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
2	Human cholesterol 7alpha-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype. J Clin Invest. 2002 Jul;110(1):109-17. doi: 10.1172/JCI15387.