Hypobetalipoproteinemia, familial, 1

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

Origin ID

615558;

UMLS CUI

C4551990;

Automatic exact mappings (from CISMeF team)
- APOB wt Allele [NCIt concept]
- Lipoprotein deficiency [ICD-10 Sub-category]
- abetalipoproteinemia [DO Concept]
- hypobetalipoproteinemias [MeSH Descriptor]
Currated CISMeF NLP mapping
- Hypobetalipoproteinemia, Familial, 1 [MeSH Supplementary Concept]
- familial hypobetalipoproteinemia 1 [DO Concept]
DO Cross reference
- familial hypobetalipoproteinemia 1 [DO Concept]
Genes related to phenotype
- Apolipoprotein b [OMIM gene]
HPO term(s)
- Acanthocytosis [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased HDL cholesterol concentration [HPO term]
- Decreased LDL cholesterol concentration [HPO term]
- Decreased circulating vitamin E concentration [HPO term]
- Elevated circulating alanine aminotransferase concentration [HPO term]
- Elevated circulating aspartate aminotransferase concentration [HPO term]
- Hypertriglyceridemia [HPO term]
- Hypocholesterolemia [HPO term]
- Infantile onset [HPO term]
- Reduced circulating vitamin A concentration [HPO term]
- Reduced tendon reflexes [HPO term]
- Retinal degeneration [HPO term]
- Rod-cone dystrophy [HPO term]
- Steatorrhea [HPO term]
ORDO concept(s)
- Abetalipoproteinemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial hypobetalipoproteinemia (disorder) [SNOMED CT concept]
- Hypobetalipoproteinemia, Familial, 1 [MeSH Supplementary Concept]
- familial hypobetalipoproteinemia [SNOMED Notion]
- familial hypobetalipoproteinemia 1 [DO Concept]
Validated automatic mappings to NTBT
- Familial hypobetalipoproteinemia [ORDO Disease]
- Familial hypobetalipoproteinemia (disorder) [SNOMED CT concept]
- familial hypobetalipoproteinemia [SNOMED Notion]

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