Details of Disease

General Information of Disease (ID: DISNRSNM)

Disease Name	Dysbetalipoproteinemia
Synonyms	familial hypercholesterolemia with hyperlipemia; Broad beta disease; hyperlipoproteinemia, type III; dysbetalipoproteinemia; remnant removal disease; hyperlipemia with Familial Hypercholesterolemic xanthomatosis; coronary artery disease, Severe, Susceptibility to; familial Hyperbeta- and Prebetalipoproteinemia; low density lipoprotein cholesterol level quantitative trait locus 5; familial hypercholesterolaemia with hyperlipaemia; dysbetalipoproteinemia due to defect in apolipoprotein E-D; apolipoprotein E, deficiency or defect of; floating-betalipoproteinemia; HLP type 3; remnant hyperlipidemia; familial dysbetalipoproteinemia; hyperlipidemia type 3; remnant disease; familial hyperlipoproteinemia type 3; Broad-betalipoproteinemia; hyperlipoproteinemia type III; familial type 3 hyperlipoproteinemia; dyslipidaemia type 3; dyslipidemia type 3; carbohydrate induced hyperlipemia
Disease Class	5C80: Hyper-lipoproteinaemia
Definition	Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease.
Disease Hierarchy	DIS4R2OG: Hyperlipidaemia DISNRSNM: Dysbetalipoproteinemia
ICD Code	ICD-11 ICD-11: 5C80.2 ICD-10 ICD-10: E78.2 ICD-9 ICD-9: 272.2 Expand ICD-11 '5C80.2 Expand ICD-10 'E78.2 Expand ICD-9 272.2
Disease Identifiers	MONDO ID MONDO_0018473 MESH ID D006952 UMLS CUI C0020479 OMIM ID 617347 MedGen ID 9364 Orphanet ID 412 SNOMED CT ID 398796005

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Clofibrate	DMPC1J7	Approved	Small molecular drug	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
APOA2	TTGQA9W	Strong	Biomarker	[2]
APOE	TTKS9CB	Strong	Autosomal dominant	[3]
CETP	TTFQAYR	Strong	Altered Expression	[4]
LDLR	TTH0DUS	Strong	Biomarker	[5]
SULF2	TTLQTHB	Strong	Biomarker	[6]
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This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
APOA5	OTEVKLVA	Strong	Genetic Variation	[7]
APOC1	OTA58CED	Strong	Genetic Variation	[8]
APOC2	OTLINYIQ	Strong	Genetic Variation	[9]
APOE	OTFOWL2H	Strong	Autosomal dominant	[3]
LSR	OTR8Y32X	Strong	Altered Expression	[10]
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References

1	URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 2667).
2	Roles of high apolipoprotein E blood levels and HDL in development of familial dysbetalipoproteinemia in 22 subjects.Clin Biochem. 2018 Feb;52:67-72. doi: 10.1016/j.clinbiochem.2017.11.010. Epub 2017 Nov 20.
3	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
4	Co-expression of cholesteryl ester transfer protein and defective apolipoprotein E in transgenic mice alters plasma cholesterol distribution. Implications for the pathogenesis of type III hyperlipoproteinemia.J Biol Chem. 1994 Dec 23;269(51):32368-72.
5	Apolipoprotein E in lipoprotein metabolism, health and cardiovascular disease.Pathology. 2019 Feb;51(2):165-176. doi: 10.1016/j.pathol.2018.11.002. Epub 2018 Dec 28.
6	Autosomal dominant familial dysbetalipoproteinemia: A pathophysiological framework and practical approach to diagnosis and therapy.J Clin Lipidol. 2017 Jan-Feb;11(1):12-23.e1. doi: 10.1016/j.jacl.2016.10.001. Epub 2016 Oct 13.
7	Cerebrovascular atherosclerosis in type III hyperlipidemia is modulated by variation in the apolipoprotein A5 gene.Eur J Med Res. 2011 Feb 24;16(2):79-84. doi: 10.1186/2047-783x-16-2-79.
8	Exact localization of the familial dysbetalipoproteinemia associated HpaI restriction site in the promoter region of the APOC1 gene.Biochem Biophys Res Commun. 1988 May 16;152(3):1282-8. doi: 10.1016/s0006-291x(88)80424-8.
9	Apolipoprotein gene cluster on chromosome 19. Definite localization of the APOC2 gene and the polymorphic Hpa I site associated with type III hyperlipoproteinemia.Hum Genet. 1988 Jan;78(1):90-3. doi: 10.1007/BF00291243.
10	Effect of LSR polymorphism on blood lipid levels and age-specific epistatic interaction with the APOE common polymorphism.Clin Genet. 2018 Apr;93(4):846-852. doi: 10.1111/cge.13181.