Details of Disease

Disease Name

Hypercholesterolemia, autosomal dominant, type B

apolipoprotein B-100, familial defective; hypercholesterolemia, familial, due to ligand-defective apolipoprotein B; apolipoprotein B-100, familial ligand-defective; hypercholesterolemia, autosomal dominant, type B; hypercholesterolemia, familial, 2

Disease Hierarchy

DISC06IX: Familial hypercholesterolemia

DISNFXJZ: Hypercholesterolemia, autosomal dominant, type B

Disease Identifiers

MONDO ID

MONDO_0007751

MESH ID

D006938

UMLS CUI

C1704417

OMIM ID

144010

MedGen ID

309962

SNOMED CT ID

238081000

General Information of Disease (ID: DISNFXJZ)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 12 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
APOE	TTKS9CB	Limited	Genetic Variation	[1]
LPL	TTOF3WZ	Limited	Genetic Variation	[1]
PCSK9	TTNIZ2B	Limited	Genetic Variation	[2]
LDLR	TTH0DUS	moderate	Genetic Variation	[3]
ABCA1	TTJW1GN	Strong	Biomarker	[4]
APOA2	TTGQA9W	Strong	Biomarker	[5]
APOA4	TTNC3WS	Strong	Biomarker	[4]
APOC3	TTXOZQ1	Strong	Biomarker	[4]
CETP	TTFQAYR	Strong	Biomarker	[4]
PON1	TT9LX82	Strong	Biomarker	[6]
APOB	TT2718H	Definitive	Autosomal dominant	[7]
HMGCR	TTPADOQ	Definitive	Biomarker	[8]
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⏷ Show the Full List of 12 DTT(s)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PON2	DEHJU7E	Strong	Biomarker	[4]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DLX4	OTLWVCN4	Strong	Biomarker	[9]
LIPC	OTZY5SC9	Strong	Biomarker	[4]
APOB	OTH0UOCZ	Definitive	Autosomal dominant	[7]
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References

1	Apolipoprotein E and lipoprotein lipase gene polymorphisms interaction on the atherogenic combined expression of hypertriglyceridemia and hyperapobetalipoproteinemia phenotypes.J Endocrinol Invest. 2007 Jul-Aug;30(7):551-7. doi: 10.1007/BF03346348.
2	PCSK9 inhibitor therapy in homozygous familial defective apolipoprotein B-100 due to APOB R3500Q: A case report.J Clin Lipidol. 2017 Nov-Dec;11(6):1471-1474. doi: 10.1016/j.jacl.2017.09.001. Epub 2017 Sep 18.
3	Familial defective apolipoprotein B-100: Areview.J Clin Lipidol. 2016 Nov-Dec;10(6):1297-1302. doi: 10.1016/j.jacl.2016.09.009. Epub 2016 Sep 22.
4	Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia.Eur J Hum Genet. 2005 Oct;13(10):1137-42. doi: 10.1038/sj.ejhg.5201467.
5	Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred.J Hum Genet. 2002;47(12):656-64. doi: 10.1007/s100380200101.
6	The effect of statin therapy on plasma high-density lipoprotein cholesterol levels is modified by paraoxonase-1 in patients with familial hypercholesterolaemia.J Intern Med. 2005 Nov;258(5):442-9. doi: 10.1111/j.1365-2796.2005.01557.x.
7	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.
8	Regulation of isoprenoid/cholesterol biosynthesis in cells from mevalonate kinase-deficient patients. J Biol Chem. 2003 Feb 21;278(8):5736-43.
9	Further insights into the pathophysiology of hyperapobetalipoproteinemia: role of basic proteins I, II, III.Clin Chem. 1991 Mar;37(3):317-26.