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;
Origin ID : 615558;
UMLS CUI : C4551990;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)