Hyperlipidemia, Familial Combined, 3

Alternative Names

  • FCHL3
  • Familial Combined Hyperlipidemia

Associated Genes

Toll-Like Receptor 2
Back to search Result
WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

144250

Mode of Inheritance

Autosomal dominant

Gene Map Locus

4q31.3,8p21.3

Description

Familial combined hyperlipidemia (FCHL) is characterized by fluctuations in serum lipid concentrations and may present as mixed hyperlipidemia, isolated hypercholesterolemia, hypertriglyceridemia, or as a normal serum lipid profile in combination with abnormally elevated levels of apolipoprotein B. Patients with FCHL are at increased risk of cardiovascular disease and mortality and have a high frequency of comorbidity with other metabolic conditions such as type 2 diabetes, nonalcoholic fatty liver disease, steatohepatitis, and the metabolic syndrome. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
603028.G.1LebanonNM_001318787.2:c.-372-616A>GHeterozygousChedid et al. 2020 460 subjects (292 fe...
603028.G.2LebanonNM_001318787.2:c.-372-616A>GHomozygousChedid et al. 2020 460 subjects (292 fe...
© CAGS 2024. All rights reserved.