Details of Disease

General Information of Disease (ID: DISRCNCF)

Disease Name	Homozygous familial hypercholesterolemia
Synonyms	homozygous familial hypercholesterolemia; HoFH
Disease Class	5C80: Hyper-lipoproteinaemia
Disease Hierarchy	DISC06IX: Familial hypercholesterolemia DISRCNCF: Homozygous familial hypercholesterolemia
ICD Code	ICD-11 ICD-11: 5C80.00
Disease Identifiers	MONDO ID MONDO_0018328 MESH ID D000090542 UMLS CUI C0342881 MedGen ID 575266 Orphanet ID 391665 SNOMED CT ID 238078005

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
Evolocumab	DMNSAND	Approved	Monoclonal antibody	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 9 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
APOB	TT2718H	Supportive	Autosomal recessive	[2]
LDLR	TTH0DUS	Supportive	Autosomal recessive	[2]
PCSK9	TTBRG7E	Supportive	Autosomal recessive	[2]
ADH1A	TT5AHZ0	moderate	Genetic Variation	[3]
ANGPTL3	TT59GO7	moderate	Altered Expression	[4]
ABCG5	TTKZ7WY	Strong	Genetic Variation	[5]
APOB	TTN1IE2	Strong	Genetic Variation	[6]
LPA	TTU9LGY	Strong	Biomarker	[7]
MTTP	TTUS1RD	Strong	Biomarker	[8]
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⏷ Show the Full List of 9 DTT(s)

This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
APOB	OTH0UOCZ	Supportive	Autosomal recessive	[2]
LDLR	OTH559LU	Supportive	Autosomal recessive	[2]
LDLRAP1	OT6QTX7R	Supportive	Autosomal recessive	[9]
PCSK9	OTI0DU9Y	Supportive	Autosomal recessive	[2]
AMELX	OTIN26MM	moderate	Genetic Variation	[10]
MPI	OTBH6ZK1	moderate	Genetic Variation	[11]
STAP1	OTUTZH0W	moderate	Genetic Variation	[12]
ABCG8	OTIJ76XW	Strong	Genetic Variation	[5]
MT1B	OTUA4FFH	Strong	Genetic Variation	[13]
SERPINA7	OTUYVTSU	Strong	Biomarker	[14]
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⏷ Show the Full List of 10 DOT(s)

References

1	FDA Approved Drug Products from FDA Official Website.
2	Familial Hypercholesterolemia. 2014 Jan 2 [updated 2022 Jul 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
3	Microsomal transfer protein (MTP) inhibition-a novel approach to the treatment of homozygous hypercholesterolemia.Ann Med. 2014 Nov;46(7):464-74. doi: 10.3109/07853890.2014.931100. Epub 2014 Jul 2.
4	Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants in Patient Lymphocytes to Assess the Effect of Evinacumab in Homozygous Familial Hypercholesterolemia Patients With a Spectrum of LDLR Activity.Arterioscler Thromb Vasc Biol. 2019 Nov;39(11):2248-2260. doi: 10.1161/ATVBAHA.119.313051. Epub 2019 Oct 3.
5	Genetic variations at ABCG5/G8 genes modulate plasma lipids concentrations in patients with familial hypercholesterolemia.Atherosclerosis. 2010 Jun;210(2):486-92. doi: 10.1016/j.atherosclerosis.2010.01.010. Epub 2010 Jan 22.
6	The clinical and molecular diversity of homozygous familial hypercholesterolemia in children: Results from the GeneTics of clinical homozygous hypercholesterolemia (GoTCHA) study.J Clin Lipidol. 2019 Mar-Apr;13(2):272-278. doi: 10.1016/j.jacl.2018.12.003. Epub 2018 Dec 19.
7	High serum triglyceride concentrations in patients with homozygous familial hypercholesterolemia attenuate the efficacy of lipoprotein apheresis by dextran sulfate adsorption.Atherosclerosis. 2018 Mar;270:26-32. doi: 10.1016/j.atherosclerosis.2018.01.005. Epub 2018 Jan 12.
8	Microsomal triglyceride transfer protein inhibitor (lomitapide) efficacy in the treatment of patients with homozygous familial hypercholesterolaemia.Eur J Prev Cardiol. 2020 Jan;27(2):157-165. doi: 10.1177/2047487319870007. Epub 2019 Aug 12.
9	Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science. 2001 May 18;292(5520):1394-8. doi: 10.1126/science.1060458. Epub 2001 Apr 26.
10	Effect of the proprotein convertase subtilisin/kexin 9 monoclonal antibody, AMG 145, in homozygous familial hypercholesterolemia.Circulation. 2013 Nov 5;128(19):2113-20. doi: 10.1161/CIRCULATIONAHA.113.004678. Epub 2013 Sep 6.
11	2D-STI combined with gated (99)Tc(m)-MIBI MPI for the diagnosis of myocardial ischemia in hypercholesterolemia patients.Exp Ther Med. 2017 Aug;14(2):981-994. doi: 10.3892/etm.2017.4602. Epub 2017 Jun 14.
12	Alirocumab efficacy in patients with double heterozygous, compound heterozygous, or homozygous familial hypercholesterolemia.J Clin Lipidol. 2018 Mar-Apr;12(2):390-396.e8. doi: 10.1016/j.jacl.2017.12.008. Epub 2017 Dec 28.
13	MTP Gene Variants and Response to Lomitapide in Patients with Homozygous Familial Hypercholesterolemia.J Atheroscler Thromb. 2016 Jul 1;23(7):878-83. doi: 10.5551/jat.34777. Epub 2016 May 10.
14	Non-Clinical Study Examining AAV8.TBG.hLDLR Vector-Associated Toxicity in Chow-Fed Wild-Type and LDLR(+/-) Rhesus Macaques.Hum Gene Ther Clin Dev. 2017 Mar;28(1):39-50. doi: 10.1089/humc.2017.014.