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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Detalhes bibliográficos
Autor principal: Chora, Joana R. (author)
Outros Autores: 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)
Formato: conferenceObject
Idioma:eng
Publicado em: 2019
Assuntos:
Familial Hypercholesterolemia
Doenças Cardio e Cérebro-vasculares
Texto completo:http://hdl.handle.net/10400.18/5882
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/5882
Descrição
Resumo: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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