Hypobetalipoproteinemia, Familial, 1

Alternative Names

  • FHBL1
  • Hypobetalipoproteinemia, Familial
  • FHBL
  • Acanthocytosis with Hypobetalipoproteinemia
  • Hypobetalipoproteinemia, Normotriglyceridemic

Associated Genes

Apolipoprotein B
Back to search Result
WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

OMIM Number

615558

Mode of Inheritance

Autosomal codominant

Gene Map Locus

2p24.1

Description

Hypobetalipoproteinemia (FHBL) is characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of this disorder is improper packaging and secretion of apolipoprotein B-containing particles. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615558.G.1LebanonYes Decreased LDL cholesterol concentrationNM_000384.3:c.1468C>TAutosomal, DominantBurnett et al, 2003 Two homozygous and 1...
© CAGS 2024. All rights reserved.