Hypobetalipoproteinemia, familial, 2

Preferred Label : Hypobetalipoproteinemia, familial, 2;

Symbol : FHBL2;

CISMeF acronym : FHBL2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypolipidemia, familial, combined;

Description : Hypobetalipoproteinemia (HBL) is defined as permanently low levels, below the 5th percentile of sex- and age-matched individuals in the population, of apolipoprotein B (apoB), total cholesterol, and low-density lipoprotein (LDL) cholesterol; the lipid profile in FHBL2 includes low HDL cholesterol as well. HBL can result from environmental factors such as a strict vegetarian diet, or can be secondary to certain diseases such as intestinal fat malabsorption, chronic pancreatitis, severe liver disease, malnutrition, or hyperthyroidism. Heritable primary causes of HBL include chylomicron retention disease (CMRD; 246700), abetalipoproteinemia (200100), and familial hypobetalipoproteinemia (FHBL) (summary by Martin-Campos et al., 2012). For a discussion of genetic heterogeneity of familial hypobetalipoproteinemia, see FHBL1 (615558).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the angiopoietin-like-3 gene (ANGPTL3, 604774.0001);

Laboratory abnormalities : Near-complete absence of VLDL peak on density gradient ultracentrifugation (in some patients); Marked hypobetalipoproteinemia; Low LDL cholesterol; Low apolipoprotein; Marked hypoalphalipoproteinemia (in some patients); Low to very low HDL cholesterol; Low triglycerides;

Prefixed ID : #605019;

Details

Origin ID

605019;

UMLS CUI

C1857970;

Currated CISMeF NLP mapping
- Familial hypobetalipoproteinemia [ORDO Disease]
- Familial hypobetalipoproteinemia (disorder) [SNOMED CT concept]
- Hypobetalipoproteinemia, Familial, 1 [MeSH concept]
- Hypobetalipoproteinemia, Familial, 1 [MeSH Supplementary Concept]
- familial hypobetalipoproteinemia [SNOMED Notion]
- familial hypobetalipoproteinemia 2 [DO Concept]
- hypobetalipoproteinemia, familial, 2 [MeSH concept]
- hypobetalipoproteinemia, familial, 2 [MeSH Supplementary Concept]
- hypobetalipoproteinemia, familial, apolipoprotein B [MeSH Descriptor]
- hypobetalipoproteinemia, familial, apolipoprotein B [MeSH concept]
DO Cross reference
- familial hypobetalipoproteinemia 2 [DO Concept]
Genes related to phenotype
- Angiopoietin-like 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased LDL cholesterol concentration [HPO term]
- Hypotriglyceridemia [HPO term]
ORDO concept(s)
- Abetalipoproteinemia [ORDO Disease]
- Familial hypobetalipoproteinemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- familial hypobetalipoproteinemia 2 [DO Concept]
- hypobetalipoproteinemia, familial, 2 [MeSH Supplementary Concept]
- hypobetalipoproteinemia, familial, 2 [MeSH concept]

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