Familial hypercholesterolemiaassociated variants in ClinVar

Familial Hypercholesterolemia (FH): Lipid metabolism autosomal dominant condition; Patients present elevated low-density lipoprotein cholesterol (LDL-C) and total cholesterol (TC) values since birth - elevated cardiovascular risk if untreated; High heterozygote prevalence (1/250-500); Homozygous rar...

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Bibliographic Details
Main Author: Chora, Joana R. (author)
Other Authors: Iacocca, Michael A. (author), Carrié, Alain (author), Freiberger, Tomáš (author), Leigh, Sarah E. (author), Defesche, Joep C. (author), Kurtz, C. Lisa (author), DiStefano, Marina T. (author), Santos, Raul D. (author), Humphries, Steve E. (author), Mata, Pedro (author), Jannes, Cinthia E. (author), Hooper, Amanda J. (author), Wilemon, Katherine A. (author), Benlian, Pascale (author), O'Connor, Robert (author), Garcia, John (author), Wand, Hannah (author), Tichý, Lukáš (author), Sijbrands, Eric J. (author), Hegele, Robert A. (author), Bourbon, Mafalda (author), Knowles, Joshua W. (author), On behalf of the ClinGen FH Variant Curation Expert Panel (author)
Format: conferenceObject
Language:eng
Published: 2019
Subjects:
Familial Hypercholesterolemia
Doenças Cardio e Cérebro-vasculares
Online Access:http://hdl.handle.net/10400.18/5882
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/5882
Description
Summary:Familial Hypercholesterolemia (FH): Lipid metabolism autosomal dominant condition; Patients present elevated low-density lipoprotein cholesterol (LDL-C) and total cholesterol (TC) values since birth - elevated cardiovascular risk if untreated; High heterozygote prevalence (1/250-500); Homozygous rare (1/300 000-1 000 000); Caused by pathogenic variants in LDLR (>90%), APOB (5-10%) and PCSK9 (1-3%) genes.

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