Details of Disease | DrugMAP

General Information of Disease (ID: DIS8KE3U)

Disease Name	Hypercholesterolemia, autosomal dominant, 3
Synonyms	Fh3; HCHOLA3; low density lipoprotein cholesterol level quantitative trait locus 1; low density lipoprotein cholesterol level QTL 1; familial hypercholesterolemia caused by mutation in PCSK9; hypercholesterolemia, autosomal dominant, type 3; PCSK9 familial hypercholesterolemia; hypercholesterolemia, familial, 3; hypercholesterolemia, autosomal dominant, 3
Definition	Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene.
Disease Hierarchy	DISC06IX: Familial hypercholesterolemia DIS8KE3U: Hypercholesterolemia, autosomal dominant, 3
Disease Identifiers	MONDO ID MONDO_0011369 MESH ID C566337 UMLS CUI C1863551 OMIM ID 603776 MedGen ID 355007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PCSK9	TTNIZ2B	Strong	CausalMutation	[1]
PCSK9	TTBRG7E	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PCSK9	OTI0DU9Y	Definitive	Autosomal dominant	[2]
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References

1	Proprotein convertase subtilisin/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia.J Clin Lipidol. 2016 May-Jun;10(3):547-555.e5. doi: 10.1016/j.jacl.2015.12.024. Epub 2016 Jan 6.
2	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.