Details of Disease

General Information of Disease (ID: DISNSAA7)

Disease Name Familial hypobetalipoproteinemia 2
Synonyms
hypolipidemia, familial, combined; hypobetalipoproteinemia, familial, 2; FHBL2; familial hypobetalipoproteinemia 2; familial hypobetalipoproteinemia type 2; hypobetalipoproteinemia caused by mutation in ANGPTL3; ANGPTL3 hypobetalipoproteinemia; combined familial hypolipidemia; hypobetalipoproteinemia, familial, type 2
Definition Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene.
Disease Hierarchy
DIS0TPI3: Hypobetalipoproteinemia
DISNSAA7: Familial hypobetalipoproteinemia 2
Disease Identifiers
MONDO ID
MONDO_0011505
MESH ID
C565732
UMLS CUI
C1857970
OMIM ID
605019
MedGen ID
341895

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
APOB TTN1IE2 Strong Biomarker [1]
ANGPTL3 TTUO98L Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ANGPTL3 OTCD5Z9W Definitive Autosomal recessive [2]
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References

1 Regulation of the apolipoprotein B in heterozygous hypobetalipoproteinemic knock-out mice expressing truncated apoB, B81. Low production and enhanced clearance of apoB cause low levels of apoB.Mol Cell Biochem. 1999 Dec;202(1-2):37-46. doi: 10.1023/a:1007030531478.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.