Details of Disease

General Information of Disease (ID: DIS0TPI3)

Disease Name Hypobetalipoproteinemia
Synonyms hypo-beta-lipoproteinemia
Definition A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol.
Disease Hierarchy
DISWXAH4: Hypolipoproteinemia
DIS0TPI3: Hypobetalipoproteinemia
Disease Identifiers
MONDO ID
MONDO_0017774
MESH ID
D006995
UMLS CUI
C0020597
MedGen ID
6978
Orphanet ID
31154
SNOMED CT ID
190786004

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
MTTP TTUS1RD Strong Genetic Variation [1]
ANGPTL3 TT59GO7 Definitive Genetic Variation [2]
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This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
APOC2 OTLINYIQ Disputed Biomarker [3]
EFNA5 OTOH4DRR Disputed Biomarker [4]
MT1B OTUA4FFH Strong Altered Expression [5]
PANK2 OTFBW889 Strong Biomarker [6]
SAR1B OT0JZOMY Strong Genetic Variation [1]
COG2 OTKQH4N4 Definitive Biomarker [7]
JPH3 OTHTJO2I Definitive Biomarker [6]
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⏷ Show the Full List of 7 DOT(s)

References

1 Novel mutations of SAR1B gene in four children with chylomicron retention disease.J Clin Lipidol. 2019 Jul-Aug;13(4):554-562. doi: 10.1016/j.jacl.2019.05.013. Epub 2019 May 30.
2 Clinical and biochemical characteristics of individuals with low cholesterol syndromes: Acomparison between familial hypobetalipoproteinemia and familial combined hypolipidemia.J Clin Lipidol. 2017 Sep-Oct;11(5):1234-1242. doi: 10.1016/j.jacl.2017.06.013. Epub 2017 Jun 24.
3 Apolipoprotein C-II and C-III metabolism in a kindred of familial hypobetalipoproteinemia.Metabolism. 1991 Jan;40(1):45-50. doi: 10.1016/0026-0495(91)90191-x.
4 The molecular basis of truncated forms of apolipoprotein B in a kindred with compound heterozygous hypobetalipoproteinemia.J Lipid Res. 1989 Nov;30(11):1773-9.
5 Hypobetalipoproteinemia and abetalipoproteinemia.Curr Opin Lipidol. 2014 Jun;25(3):161-8. doi: 10.1097/MOL.0000000000000072.
6 Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome.Eur J Med Genet. 2018 Nov;61(11):699-705. doi: 10.1016/j.ejmg.2017.12.007. Epub 2017 Dec 16.
7 PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia.Arterioscler Thromb Vasc Biol. 2009 Dec;29(12):2191-7. doi: 10.1161/ATVBAHA.109.194191. Epub 2009 Sep 17.