Hypercholesterolemia, Autosomal Dominant, Type B disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HYP734 MIFTS: 43	Hypercholesterolemia, Autosomal Dominant, Type B Categories: Genetic diseases, Rare diseases, Metabolic diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes Drugs Download Expand all tables

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Aliases & Classifications for Hypercholesterolemia, Autosomal Dominant, Type B

MalaCards integrated aliases for Hypercholesterolemia, Autosomal Dominant, Type B:

Name: Hypercholesterolemia, Autosomal Dominant, Type B ⁵⁷ ²⁹ ⁶ ⁴⁰

Hypercholesterolemia, Due to Ligand-Defective Apo B ⁵⁷ ¹³

Familial Ligand-Defective Apolipoprotein B-100 ⁵³ ⁷⁵

Apolipoprotein B-100, Familial Defective ⁵⁷ ⁵⁵

Hypercholesterolemia, Familial, Due to Ligand-Defective Apolipoprotein B ⁵⁷

Familial Hypercholesterolemia Due to Ligand-Defective ⁵³

Apolipoprotein B-100, Familial Ligand-Defective ⁵⁷

Autosomal Dominant Type B Hypercholesterolemia ⁵³

Familial Defective Apolipoprotein B-100 ⁵³

Hyperlipoproteinemia, Type 2 a ⁵³

Hyperlipoproteinemia Type Iib ⁷³

Fdb ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

hypercholesterolemia, autosomal dominant, type b:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 144010

MedGen ⁴² C1704417 C2931106

SNOMED-CT via HPO ⁶⁹ 263681008 111522004 231924000 more

UMLS ⁷³ C1704417

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Summaries for Hypercholesterolemia, Autosomal Dominant, Type B

UniProtKB/Swiss-Prot : ⁷⁵ Familial ligand-defective apolipoprotein B-100: Dominantly inherited disorder of lipoprotein metabolism leading to hypercholesterolemia and increased proneness to coronary artery disease (CAD). The plasma cholesterol levels are dramatically elevated due to impaired clearance of LDL particles by defective APOB/E receptors.

MalaCards based summary : Hypercholesterolemia, Autosomal Dominant, Type B, also known as hypercholesterolemia, due to ligand-defective apo b, is related to defective apolipoprotein b-100 and xanthoma disseminatum. An important gene associated with Hypercholesterolemia, Autosomal Dominant, Type B is APOB (Apolipoprotein B), and among its related pathways/superpathways are Vesicle-mediated transport and Metabolism of water-soluble vitamins and cofactors. The drugs Anticholesteremic Agents and Antimetabolites have been mentioned in the context of this disorder. Related phenotypes are corneal arcus and xanthelasma

Description from OMIM: 144010

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Related Diseases for Hypercholesterolemia, Autosomal Dominant, Type B

Diseases in the Hypercholesterolemia, Familial family:

Hypercholesterolemia, Autosomal Dominant, Type B	Hypercholesterolemia, Autosomal Dominant, 3
Hypercholesterolemia, Autosomal Recessive

Diseases related to Hypercholesterolemia, Autosomal Dominant, Type B via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)

#	Related Disease	Score	Top Affiliating Genes
1	defective apolipoprotein b-100	28.8	APOB APOE LDLR
2	xanthoma disseminatum	10.0	APOB APOE
3	leukodystrophy, hypomyelinating, 3	10.0	APOB APOE
4	schnyder corneal dystrophy	10.0	APOB APOE
5	hyperlipidemia, familial combined	10.0	APOB APOE
6	hyperlipoproteinemia, type iv	10.0	APOB APOE
7	ischemic heart disease	10.0	APOB APOE
8	hypolipoproteinemia	9.9	APOB APOE
9	abetalipoproteinemia	9.9	APOB APOE
10	coronary stenosis	9.8	APOB APOE
11	carotid artery disease	9.8	APOB APOE
12	gallbladder disease	9.8	APOB APOE
13	tangier disease	9.7	APOB APOE
14	aortic atherosclerosis	9.7	APOE LDLR
15	smith-lemli-opitz syndrome	9.7	APOE LDLR
16	arteriosclerosis	9.7	APOB APOE
17	hypoalphalipoproteinemia, primary	9.6	APOB LDLR
18	hypertriglyceridemia, familial	9.6	APOB LDLR
19	macular degeneration, age-related, 1	9.5	APOB APOE
20	hepatitis c virus	9.3	APOE LDLR
21	stroke, ischemic	9.2	APOB APOE
22	lipoprotein glomerulopathy	9.1	APOB APOE LDLR
23	hypobetalipoproteinemia, familial, 1	9.1	APOB APOE LDLR
24	homozygous familial hypercholesterolemia	9.1	APOB APOE LDLR
25	xanthomatosis	9.1	APOB APOE LDLR
26	hyperlipoproteinemia, type iii	9.1	APOB APOE LDLR
27	arcus corneae	9.1	APOB APOE LDLR
28	hyperalphalipoproteinemia 1	9.1	APOB APOE LDLR
29	lecithin:cholesterol acyltransferase deficiency	9.1	APOB APOE LDLR
30	coronary heart disease 1	9.1	APOB APOE LDLR
31	familial hyperlipidemia	9.1	APOB APOE LDLR
32	lipid metabolism disorder	9.1	APOB APOE LDLR
33	arteries, anomalies of	9.1	APOB APOE LDLR
34	atherosclerosis susceptibility	9.1	APOB APOE LDLR
35	cerebrovascular disease	9.1	APOB APOE LDLR
36	hypercholesterolemia, familial	9.0	APOB APOE LDLR
37	vascular disease	9.0	APOB APOE LDLR
38	coronary artery anomaly	9.0	APOB APOE LDLR
39	heart disease	8.9	APOB APOE LDLR
40	myocardial infarction	8.9	APOB APOE LDLR

Graphical network of the top 20 diseases related to Hypercholesterolemia, Autosomal Dominant, Type B:

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Symptoms & Phenotypes for Hypercholesterolemia, Autosomal Dominant, Type B

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skin:
tendinous xanthomas
planar xanthomas in homozygotes

Cardiac:
coronary artery disease

Eyes:
corneal arcus
xanthelasma

Lab:
hypercholesterolemia
abnormal ldl

Clinical features from OMIM:

144010

Human phenotypes related to Hypercholesterolemia, Autosomal Dominant, Type B:

³²

#	Description	HPO Source Accession
1	corneal arcus ³²	HP:0001084
2	xanthelasma ³²	HP:0001114
3	coronary artery atherosclerosis ³²	HP:0001677
4	hypercholesterolemia ³²	HP:0003124

GenomeRNAi Phenotypes related to Hypercholesterolemia, Autosomal Dominant, Type B according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased free cholesterol	GR00340-A-2	9.13	APOB APOE LDLR
2	Increased LDL uptake	GR00340-A-1	8.62	APOE LDLR

MGI Mouse Phenotypes related to Hypercholesterolemia, Autosomal Dominant, Type B:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	liver/biliary system	MP:0005370	9.43	APOB APOE LDLR
2	muscle	MP:0005369	9.33	APOB APOE LDLR
3	pigmentation	MP:0001186	9.13	APOB APOE LDLR
4	vision/eye	MP:0005391	8.8	APOB APOE LDLR

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Drugs & Therapeutics for Hypercholesterolemia, Autosomal Dominant, Type B

Drugs for Hypercholesterolemia, Autosomal Dominant, Type B (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)

#	Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1	Anticholesteremic Agents		Phase 4,Phase 2
2	Antimetabolites		Phase 4,Phase 2
3	Calcium, Dietary		Phase 4,Phase 2
4	Hydroxymethylglutaryl-CoA Reductase Inhibitors		Phase 4,Phase 2
5	Hypolipidemic Agents		Phase 4,Phase 2
6	Lipid Regulating Agents		Phase 4,Phase 2
7	Rosuvastatin Calcium		Phase 4		147098-20-2
8	Atorvastatin Calcium		Phase 2		134523-03-8

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Effect of Rosuvastatin on Triglyceride Levels in Mexican Hypertriglyceridemic Patients	Completed	NCT00473655	Phase 4	rosuvastatin
2	Study of the Safety and Tolerability Associated With PPD10558 Versus Atorvastatin in Patients Previously Intolerant to Statins Due to Statin-associated Myalgia (SAM)	Completed	NCT01279590	Phase 2	PPD10558;Atorvastatin;Placebo

Search NIH Clinical Center for Hypercholesterolemia, Autosomal Dominant, Type B

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Genetic Tests for Hypercholesterolemia, Autosomal Dominant, Type B

Genetic tests related to Hypercholesterolemia, Autosomal Dominant, Type B:

#	Genetic test	Affiliating Genes
1	Hypercholesterolemia, Autosomal Dominant, Type B ²⁹	APOB

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Anatomical Context for Hypercholesterolemia, Autosomal Dominant, Type B

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Publications for Hypercholesterolemia, Autosomal Dominant, Type B

Articles related to Hypercholesterolemia, Autosomal Dominant, Type B:

#	Title	Authors	Year
1	High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations. ( 18325181 )	Liyanage K.E....van Bockxmeer F.M.	2008
2	Familial ligand-defective apolipoprotein B-100: simultaneous detection of the Arg3500-->Gln and Arg3531-->Cys mutations in a French population. ( 9259199 )	Rabes J.P....Boileau C.	1997
3	Familial ligand-defective apolipoprotein B-100: detection, biochemical features and haplotype analysis of the R3531C mutation in the UK. ( 9105560 )	Wenham P.R....Walker S.W.	1997

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Genes for Hypercholesterolemia, Autosomal Dominant, Type B

Genes related to Hypercholesterolemia, Autosomal Dominant, Type B (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	APOB	Apolipoprotein B	Protein Coding	1331.11	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Novoseek inferred ⁵⁵ GeneCards inferred via : Variants (show sections)	24404629 7784416 1845776 (more) 8001287 11031227 16314194 7758080 2280177 8006512 11040093 1674216 8215738
2	LDLR	Low Density Lipoprotein Receptor	Protein Coding	21.17	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	2313203 1453124 1347103 (more) 1600334 8318507 9360938 8509718 8906585 11031227 16314194 16502360 2310429 1505652 8457260 8254047 8187806 9727746 11040093 2067318 1892487 8474308 7989871 11851376
3	APOE	Apolipoprotein E	Protein Coding	17.89	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	11262894 8471813

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Variations for Hypercholesterolemia, Autosomal Dominant, Type B

UniProtKB/Swiss-Prot genetic disease variations for Hypercholesterolemia, Autosomal Dominant, Type B:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	APOB	p.Arg3527Gln	VAR_005025	rs5742904
2	APOB	p.Arg3558Cys	VAR_005026	rs12713559

ClinVar genetic disease variations for Hypercholesterolemia, Autosomal Dominant, Type B:

⁶

(show top 50) (show all 498)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	APOB	NM_000384.2(APOB): c.10294C> G (p.Gln3432Glu)	single nucleotide variant	Benign/Likely benign	rs1042023	GRCh37	Chromosome 2, 21229446: 21229446
2	APOB	NM_000384.2(APOB): c.10294C> G (p.Gln3432Glu)	single nucleotide variant	Benign/Likely benign	rs1042023	GRCh38	Chromosome 2, 21006574: 21006574
3	APOB	NM_000384.2(APOB): c.10187C> A (p.Ala3396Asp)	single nucleotide variant	Likely pathogenic	rs730880052	GRCh37	Chromosome 2, 21229553: 21229553
4	APOB	NM_000384.2(APOB): c.10187C> A (p.Ala3396Asp)	single nucleotide variant	Likely pathogenic	rs730880052	GRCh38	Chromosome 2, 21006681: 21006681
5	APOB	NM_000384.2(APOB): c.6639_6641delTGA (p.Asp2213del)	deletion	Conflicting interpretations of pathogenicity	rs541497967	GRCh37	Chromosome 2, 21233099: 21233101
6	APOB	NM_000384.2(APOB): c.6639_6641delTGA (p.Asp2213del)	deletion	Conflicting interpretations of pathogenicity	rs541497967	GRCh38	Chromosome 2, 21010227: 21010229
7	APOB	NM_000384.2(APOB): c.7696G> A (p.Glu2566Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs1801696	GRCh38	Chromosome 2, 21009172: 21009172
8	APOB	NM_000384.2(APOB): c.7696G> A (p.Glu2566Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs1801696	GRCh37	Chromosome 2, 21232044: 21232044
9	APOB	NM_000384.2(APOB): c.5066G> A (p.Arg1689His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs151009667	GRCh38	Chromosome 2, 21011802: 21011802
10	APOB	NM_000384.2(APOB): c.5066G> A (p.Arg1689His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs151009667	GRCh37	Chromosome 2, 21234674: 21234674
11	APOB	NM_000384.2(APOB): c.2585T> C (p.Val862Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145142090	GRCh38	Chromosome 2, 21023544: 21023544
12	APOB	NM_000384.2(APOB): c.2585T> C (p.Val862Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145142090	GRCh37	Chromosome 2, 21246416: 21246416
13	APOB	NM_000384.2(APOB): c.1661C> T (p.Pro554Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs12714214	GRCh37	Chromosome 2, 21251367: 21251367
14	APOB	NM_000384.2(APOB): c.1661C> T (p.Pro554Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs12714214	GRCh38	Chromosome 2, 21028495: 21028495
15	APOB	NM_000384.2(APOB): c.1298C> T (p.Ala433Val)	single nucleotide variant	Likely benign	rs13306190	GRCh37	Chromosome 2, 21255280: 21255280
16	APOB	NM_000384.2(APOB): c.1298C> T (p.Ala433Val)	single nucleotide variant	Likely benign	rs13306190	GRCh38	Chromosome 2, 21032408: 21032408
17	APOB	NM_000384.2(APOB): c.9835A> G (p.Ser3279Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs12720854	GRCh38	Chromosome 2, 21007033: 21007033
18	APOB	NM_000384.2(APOB): c.9835A> G (p.Ser3279Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs12720854	GRCh37	Chromosome 2, 21229905: 21229905
19	APOB	NM_000384.2(APOB): c.8462C> T (p.Pro2821Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs72653095	GRCh37	Chromosome 2, 21231278: 21231278
20	APOB	NM_000384.2(APOB): c.8462C> T (p.Pro2821Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs72653095	GRCh38	Chromosome 2, 21008406: 21008406
21	APOB	NM_000384.2(APOB): c.8353A> C (p.Asn2785His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs2163204	GRCh37	Chromosome 2, 21231387: 21231387
22	APOB	NM_000384.2(APOB): c.8353A> C (p.Asn2785His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs2163204	GRCh38	Chromosome 2, 21008515: 21008515
23	APOB	NM_000384.2(APOB): c.7285T> A (p.Ser2429Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs72653092	GRCh37	Chromosome 2, 21232455: 21232455
24	APOB	NM_000384.2(APOB): c.7285T> A (p.Ser2429Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs72653092	GRCh38	Chromosome 2, 21009583: 21009583
25	APOB	NM_000384.2(APOB): c.5741A> G (p.Asn1914Ser)	single nucleotide variant	Benign/Likely benign	rs1801699	GRCh37	Chromosome 2, 21233999: 21233999
26	APOB	NM_000384.2(APOB): c.5741A> G (p.Asn1914Ser)	single nucleotide variant	Benign/Likely benign	rs1801699	GRCh38	Chromosome 2, 21011127: 21011127
27	APOB	NM_000384.2(APOB): c.4178C> T (p.Ala1393Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143282164	GRCh37	Chromosome 2, 21236070: 21236070
28	APOB	NM_000384.2(APOB): c.4178C> T (p.Ala1393Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143282164	GRCh38	Chromosome 2, 21013198: 21013198
29	APOB	NM_000384.2(APOB): c.3634C> A (p.Leu1212Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61736761	GRCh37	Chromosome 2, 21238007: 21238007
30	APOB	NM_000384.2(APOB): c.3634C> A (p.Leu1212Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61736761	GRCh38	Chromosome 2, 21015135: 21015135
31	APOB	NM_000384.2(APOB): c.3337G> C (p.Asp1113His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs12713844	GRCh37	Chromosome 2, 21238413: 21238413
32	APOB	NM_000384.2(APOB): c.3337G> C (p.Asp1113His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs12713844	GRCh38	Chromosome 2, 21015541: 21015541
33	APOB	NM_000384.2(APOB): c.2222C> A (p.Thr741Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs12714192	GRCh37	Chromosome 2, 21249682: 21249682
34	APOB	NM_000384.2(APOB): c.2222C> A (p.Thr741Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs12714192	GRCh38	Chromosome 2, 21026810: 21026810
35	APOB	NM_000384.2(APOB): c.606A> T (p.Glu202Asp)	single nucleotide variant	Benign/Likely benign	rs61746672	GRCh37	Chromosome 2, 21260059: 21260059
36	APOB	NM_000384.2(APOB): c.606A> T (p.Glu202Asp)	single nucleotide variant	Benign/Likely benign	rs61746672	GRCh38	Chromosome 2, 21037187: 21037187
37	APOB	NM_000384.2(APOB): c.13448C> T (p.Ala4483Val)	single nucleotide variant	Uncertain significance	rs147416761	GRCh37	Chromosome 2, 21224846: 21224846
38	APOB	NM_000384.2(APOB): c.13448C> T (p.Ala4483Val)	single nucleotide variant	Uncertain significance	rs147416761	GRCh38	Chromosome 2, 21001974: 21001974
39	APOB	NM_000384.2(APOB): c.12940A> G (p.Ile4314Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs72654423	GRCh37	Chromosome 2, 21225354: 21225354
40	APOB	NM_000384.2(APOB): c.12940A> G (p.Ile4314Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs72654423	GRCh38	Chromosome 2, 21002482: 21002482
41	APOB	NM_000384.2(APOB): c.12794T> C (p.Val4265Ala)	single nucleotide variant	Benign/Likely benign	rs61743502	GRCh37	Chromosome 2, 21225500: 21225500
42	APOB	NM_000384.2(APOB): c.12794T> C (p.Val4265Ala)	single nucleotide variant	Benign/Likely benign	rs61743502	GRCh38	Chromosome 2, 21002628: 21002628
43	APOB	NM_000384.2(APOB): c.12021C> A (p.Gly4007=)	single nucleotide variant	Likely benign	rs145498491	GRCh37	Chromosome 2, 21227207: 21227207
44	APOB	NM_000384.2(APOB): c.12021C> A (p.Gly4007=)	single nucleotide variant	Likely benign	rs145498491	GRCh38	Chromosome 2, 21004335: 21004335
45	APOB	NM_000384.2(APOB): c.11966G> A (p.Arg3989His)	single nucleotide variant	Uncertain significance	rs148197354	GRCh37	Chromosome 2, 21227262: 21227262
46	APOB	NM_000384.2(APOB): c.11966G> A (p.Arg3989His)	single nucleotide variant	Uncertain significance	rs148197354	GRCh38	Chromosome 2, 21004390: 21004390
47	APOB	NM_000384.2(APOB): c.11477C> T (p.Thr3826Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61744153	GRCh37	Chromosome 2, 21228263: 21228263
48	APOB	NM_000384.2(APOB): c.11477C> T (p.Thr3826Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61744153	GRCh38	Chromosome 2, 21005391: 21005391
49	APOB	NM_000384.2(APOB): c.11401T> A (p.Ser3801Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs12713540	GRCh37	Chromosome 2, 21228339: 21228339
50	APOB	NM_000384.2(APOB): c.11401T> A (p.Ser3801Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs12713540	GRCh38	Chromosome 2, 21005467: 21005467

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Expression for Hypercholesterolemia, Autosomal Dominant, Type B

Search GEO for disease gene expression data for Hypercholesterolemia, Autosomal Dominant, Type B.

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Pathways for Hypercholesterolemia, Autosomal Dominant, Type B

Pathways related to Hypercholesterolemia, Autosomal Dominant, Type B according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Vesicle-mediated transport ⁶⁶ Show member pathways Membrane Trafficking ⁶⁶	12.71	APOB APOE LDLR
2	Metabolism of water-soluble vitamins and cofactors ⁶⁶ Show member pathways [2Fe-2S] iron-sulfur cluster biosynthesis ¹ Biotin transport and metabolism ⁶⁶ biotin-carboxyl carrier protein assembly ¹ coenzyme A biosynthesis ¹ Coenzyme A biosynthesis ⁶⁶ flavin biosynthesis ¹ folate polyglutamylation ¹ Metabolism of folate and pterines ⁶⁶ Metabolism of vitamins and cofactors ⁶⁶ molybdenum cofactor biosynthesis ¹ Molybdenum cofactor biosynthesis ⁶⁶ thiamin salvage III ¹ thio-molybdenum cofactor biosynthesis ¹ Vitamin B1 (thiamin) metabolism ⁶⁶ Vitamin B2 (riboflavin) metabolism ⁶⁶ Vitamin B5 (pantothenate) metabolism ⁶⁶ Vitamin C (ascorbate) metabolism ⁶⁶ Vitamins B6 activation to pyridoxal phosphate ⁶⁶	12.1	APOB APOE LDLR
3	Lipoprotein metabolism ⁶⁶ Show member pathways Chylomicron-mediated lipid transport ⁶⁶ Digestion of dietary lipid ⁶⁶ HDL-mediated lipid transport ⁶⁶ Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis ⁶⁶ LDL-mediated lipid transport ⁶⁶ Lipid digestion, mobilization, and transport ⁶⁶ Reelin signalling pathway ⁶⁶ VLDL biosynthesis ⁶⁶ VLDL interactions ⁶⁶ VLDLR internalisation and degradation ⁶⁶	11.97	APOB APOE LDLR
4	Clathrin-mediated endocytosis ⁶⁶ Show member pathways Cargo recognition for clathrin-mediated endocytosis ⁶⁶	11.83	APOB LDLR
5	Folate Metabolism ¹ Show member pathways Selenium Micronutrient Network ¹ thioredoxin pathway ¹ Vitamin B12 Metabolism ¹	11.66	APOB APOE LDLR
6	Metabolism of fat-soluble vitamins ⁶⁶ Show member pathways Metabolism of vitamin K ⁶⁶ Retinoid metabolism and transport ⁶⁶ The retinoid cycle in cones (daylight vision) ⁶⁶ Visual phototransduction ⁶⁶ Vitamin D (calciferol) metabolism ⁶⁶	11.46	APOB APOE LDLR
7	Binding and Uptake of Ligands by Scavenger Receptors ⁶⁶ Show member pathways Scavenging by Class A Receptors ⁶⁶ Scavenging by Class B Receptors ⁶⁶ Scavenging by Class F Receptors ⁶⁶ Scavenging by Class H Receptors ⁶⁶ Scavenging of heme from plasma ⁶⁶	11.42	APOB APOE
8	A-beta Pathways: Uptake and Degradation ⁶⁵	10.87	APOE LDLR
9	Statin Pathway ¹ Show member pathways Cholesterol metabolism ³⁷ Composition of Lipid Particles ¹ Statin Pathway, Pharmacodynamics ⁶¹	10.87	APOB APOE LDLR

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GO Terms for Hypercholesterolemia, Autosomal Dominant, Type B

Cellular components related to Hypercholesterolemia, Autosomal Dominant, Type B according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	early endosome	GO:0005769	9.5	APOB APOE LDLR
2	endosome membrane	GO:0010008	9.43	APOB LDLR
3	very-low-density lipoprotein particle	GO:0034361	9.4	APOB APOE
4	endocytic vesicle lumen	GO:0071682	9.37	APOB APOE
5	chylomicron	GO:0042627	9.26	APOB APOE
6	intermediate-density lipoprotein particle	GO:0034363	9.16	APOB APOE
7	clathrin-coated endocytic vesicle membrane	GO:0030669	9.13	APOB APOE LDLR
8	low-density lipoprotein particle	GO:0034362	8.8	APOB APOE LDLR

Biological processes related to Hypercholesterolemia, Autosomal Dominant, Type B according to GeneCards Suite gene sharing:

(show all 28)

#	Name	GO ID	Score	Top Affiliating Genes
1	lipid metabolic process	GO:0006629	9.79	APOB APOE LDLR
2	receptor-mediated endocytosis	GO:0006898	9.7	APOB APOE LDLR
3	negative regulation of gene expression	GO:0010629	9.64	APOE LDLR
4	cellular protein metabolic process	GO:0044267	9.63	APOB APOE
5	membrane organization	GO:0061024	9.63	APOB LDLR
6	retinoid metabolic process	GO:0001523	9.62	APOB APOE
7	long-term memory	GO:0007616	9.61	APOE LDLR
8	cholesterol transport	GO:0030301	9.61	APOB LDLR
9	lipid transport	GO:0006869	9.61	APOB APOE LDLR
10	triglyceride catabolic process	GO:0019433	9.6	APOB APOE
11	cholesterol efflux	GO:0033344	9.59	APOB APOE
12	low-density lipoprotein particle clearance	GO:0034383	9.58	APOB LDLR
13	positive regulation of endocytosis	GO:0045807	9.58	APOE LDLR
14	steroid metabolic process	GO:0008202	9.58	APOB APOE LDLR
15	artery morphogenesis	GO:0048844	9.57	APOB APOE
16	low-density lipoprotein particle remodeling	GO:0034374	9.56	APOB APOE
17	regulation of protein metabolic process	GO:0051246	9.55	APOE LDLR
18	regulation of cholesterol metabolic process	GO:0090181	9.54	APOE LDLR
19	cholesterol metabolic process	GO:0008203	9.54	APOB APOE LDLR
20	chylomicron assembly	GO:0034378	9.51	APOB APOE
21	cholesterol homeostasis	GO:0042632	9.5	APOB APOE LDLR
22	chylomicron remodeling	GO:0034371	9.49	APOB APOE
23	lipoprotein biosynthetic process	GO:0042158	9.48	APOB APOE
24	very-low-density lipoprotein particle clearance	GO:0034447	9.46	APOB APOE
25	lipoprotein metabolic process	GO:0042157	9.33	APOB APOE LDLR
26	response to caloric restriction	GO:0061771	9.26	APOE LDLR
27	chylomicron remnant clearance	GO:0034382	9.13	APOB APOE LDLR
28	lipoprotein catabolic process	GO:0042159	8.8	APOB APOE LDLR

Molecular functions related to Hypercholesterolemia, Autosomal Dominant, Type B according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	heparin binding	GO:0008201	9.37	APOB APOE
2	phospholipid binding	GO:0005543	9.32	APOB APOE
3	amyloid-beta binding	GO:0001540	9.26	APOE LDLR
4	lipid transporter activity	GO:0005319	9.16	APOB APOE
5	low-density lipoprotein particle receptor binding	GO:0050750	8.96	APOB APOE
6	cholesterol transporter activity	GO:0017127	8.62	APOB APOE

Sources

Sources for Hypercholesterolemia, Autosomal Dominant, Type B

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia