" /> Hypobetalipoproteinemia, familial, 1 - CISMeF





Preferred Label : Hypobetalipoproteinemia, familial, 1;

Symbol : FHBL1;

CISMeF acronym : FHBL; FHBL1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Acanthocytosis with hypobetalipoproteinemia; Hypobetalipoproteinemia, familial; Hypobetalipoproteinemia, normotriglyceridemic; FHBL;

Included titles and symbols : LDLCQ4; Low density lipoprotein cholesterol level quantitative trait locus 4;

Description : Hypobetalipoproteinemia (FBHL) and abetalipoproteinemia (ABL; 200100) are rare diseases 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 both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance, whereas obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance (summary by Lee and Hegele, 2013). - Genetic Heterogeneity of Familial Hypobetalipoproteinemia Familial hypobetalipoproteinemia-2 (FHBL2; 605019) is caused by mutation in the ANGPTL3 gene (604774) on chromosome 1p31.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the apolipoprotein B gene (APOB, 107730.0001);

Laboratory abnormalities : Hypobetalipoproteinemia; Decreased serum cholesterol;

Prefixed ID : #615558;

Details


You can consult :


Nous contacter.
01/05/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.