MCID: FML035
MIFTS: 47

Familial Hyperlipidemia

Categories: Metabolic diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Familial Hyperlipidemia

MalaCards integrated aliases for Familial Hyperlipidemia:

Name: Familial Hyperlipidemia 12 15 73
Familial Hyperlipoproteinemia 12 76 55 73
Hyperlipoproteinemias 44 73
Hyperlipidaemia 12
Hyperlipidemias 44
Hyperlipidemia 73
Hyperlipemia 12

Classifications:



Summaries for Familial Hyperlipidemia

MalaCards based summary : Familial Hyperlipidemia, also known as familial hyperlipoproteinemia, is related to hyperlipidemia, familial combined and hyperlipoproteinemia, type iii. An important gene associated with Familial Hyperlipidemia is PRMT7 (Protein Arginine Methyltransferase 7), and among its related pathways/superpathways are Metabolism and Vesicle-mediated transport. Affiliated tissues include heart and liver, and related phenotypes are Decreased free cholesterol and Increased LDL uptake

Wikipedia : 76 Hyperlipidemia is abnormally elevated levels of any or all lipids or lipoproteins in the blood. It is... more...

Related Diseases for Familial Hyperlipidemia

Diseases in the Familial Hyperlipidemia family:

Hyperlipidemia Type 3

Diseases related to Familial Hyperlipidemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 hyperlipidemia, familial combined 29.7 APOA1 APOB APOE COG2 LPA LPL
2 hyperlipoproteinemia, type iii 28.0 APOA1 APOB APOE CETP COG2 HMGCR
3 heart disease 27.9 APOA1 APOB APOE HMGCR INS LDLR
4 hypercholesterolemia, familial 24.9 APOA1 APOB APOC2 APOE CETP COG2
5 coronary heart disease 1 22.7 APOA1 APOB APOE CETP COG2 HMGCR
6 xanthoma disseminatum 10.7 APOB APOE
7 lipase deficiency, combined 10.6 LIPC LPL
8 cerebral atherosclerosis 10.5 APOA1 APOE
9 recurrent acute pancreatitis 10.5 APOE LPL
10 apolipoprotein c-ii deficiency 10.5 APOC2 LPL
11 schnyder corneal dystrophy 10.5 APOB APOE
12 hypercholesterolemia, autosomal dominant, type b 10.5 APOB APOE LDLR
13 apo a-i deficiency 10.4 APOA1 LCAT
14 hyperlipidemia, combined, 1 10.4 APOB LIPC LPL
15 dysbaric osteonecrosis 10.4 APOA1 APOB SERPINE1
16 smith-lemli-opitz syndrome 10.3 APOE HMGCR LDLR
17 sea-blue histiocyte disease 10.3 APOE LCAT
18 fish-eye disease 10.2 APOA1 LCAT
19 familial lipoprotein lipase deficiency 10.2 APOC2 LIPC LPL
20 familial lcat deficiency 10.1 APOA1 APOE LCAT
21 hepatic lipase deficiency 10.1 APOA1 APOE LIPC LPL
22 leukodystrophy, hypomyelinating, 3 10.1 APOA1 APOB APOE LPA
23 splenomegaly 10.1 APOE GBA
24 peripheral vascular disease 10.0 APOA1 APOB LPA SERPINE1
25 amyloidosis aa 10.0 APOA1 LCAT LPA
26 abdominal obesity-metabolic syndrome 1 9.8 INS SERPINE1
27 hyperinsulinism 9.8 APOB INS SERPINE1
28 aortic atherosclerosis 9.8 APOE CETP LDLR LPA
29 vestibular nystagmus 9.7 CETP GBA
30 supravalvular aortic stenosis 9.6
31 glycogen storage disease 9.6
32 nephrotic syndrome 9.6
33 pyloric stenosis 9.6
34 coronary stenosis 9.6 APOA1 APOB APOE CETP SERPINE1
35 hypobetalipoproteinemia, familial, 1 9.6 APOA1 APOB APOE LCAT LDLR
36 hyperlipoproteinemia, type v 9.6 APOC2 APOE INS LPL
37 defective apolipoprotein b-100 9.6 APOB APOE HMGCR LCAT LDLR
38 ischemic heart disease 9.5 APOA1 APOB APOE INS LPL
39 diabetes mellitus, insulin-dependent 9.5 APOA1 APOB INS LPA
40 homozygous familial hypercholesterolemia 9.5 APOB APOE HMGCR LDLR LIPC LPL
41 lipoprotein glomerulopathy 9.5 APOB APOE LCAT LDLR LPA
42 fetal macrosomia 9.5 APOA1 APOB INS LCAT
43 xanthomatosis 9.5 APOB APOE HMGCR LDLR LPA LPL
44 prediabetes syndrome 9.3 APOB COG2 INS
45 gallbladder disease 9.2 APOA1 APOB APOE CETP INS
46 monocarboxylate transporter 1 deficiency 9.2 INS LCAT
47 hypolipoproteinemia 9.2 APOA1 APOB APOE LCAT LPA LPL
48 carotid artery disease 9.1 APOA1 APOB APOE COG2 LPA
49 abetalipoproteinemia 9.1 APOA1 APOB APOE CETP LCAT LPL
50 cerebrovascular disease 9.1 APOA1 APOB APOE INS LDLR SERPINE1

Graphical network of the top 20 diseases related to Familial Hyperlipidemia:



Diseases related to Familial Hyperlipidemia

Symptoms & Phenotypes for Familial Hyperlipidemia

GenomeRNAi Phenotypes related to Familial Hyperlipidemia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.61 APOA1 APOB APOE CETP HMGCR LDLR
2 Increased LDL uptake GR00340-A-1 8.92 APOA1 APOE LDLR LPL

MGI Mouse Phenotypes related to Familial Hyperlipidemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.07 LPL GBA PRMT7 INS APOA1 LCAT
2 homeostasis/metabolism MP:0005376 10 COG2 LPL GBA PRMT7 HMGCR INS
3 growth/size/body region MP:0005378 9.96 COG2 LPL GBA PRMT7 HMGCR INS
4 endocrine/exocrine gland MP:0005379 9.92 GBA PRMT7 INS APOA1 LCAT LDLR
5 integument MP:0010771 9.5 LPL GBA INS APOA1 LDLR APOE
6 liver/biliary system MP:0005370 9.36 LPL GBA PRMT7 HMGCR SERPINE1 INS

Drugs & Therapeutics for Familial Hyperlipidemia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase 2 Study of AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With Familial Chylomicronemia Syndrome (FCS) Recruiting NCT03360747 Phase 2 AKCEA-ANGPTL3-LRX
2 Inflammatory Aspects of Glucose in Hyperlipidemia and Diabetes Completed NCT02130505 Not Applicable
3 Glybera Registry, Lipoprotein Lipase Deficient (LPLD) Patients Active, not recruiting NCT03293810
4 Volanesorsen Early Access Program for Patients With Familial Chylomicronemia Syndrome (FCS) Available NCT03544060 Volanesorsen

Search NIH Clinical Center for Familial Hyperlipidemia

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: hyperlipidemias

Genetic Tests for Familial Hyperlipidemia

Anatomical Context for Familial Hyperlipidemia

MalaCards organs/tissues related to Familial Hyperlipidemia:

41
Heart, Liver

Publications for Familial Hyperlipidemia

Articles related to Familial Hyperlipidemia:

(show all 30)
# Title Authors Year
1
Familial Hyperlipidemia Type 2a ( 29489287 )
2018
2
Comparison of carotid intima-media thickness in pediatric patients with metabolic syndrome, heterozygous familial hyperlipidemia and normals. ( 24955251 )
2014
3
Stress perfusion-fibrosis cardiac magnetic resonance detects early heart involvement in young asymptomatic, homozygous familial hyperlipidemia with normal routine non-invasive evaluation. ( 23896536 )
2013
4
Low-density lipoprotein cholesterol, apolipoprotein B, and risk of coronary heart disease: from familial hyperlipidemia to genomics. ( 22531366 )
2013
5
Novel pharmacotherapies of familial hyperlipidemia. ( 23639874 )
2013
6
An infant with milky blood : an unusual but treatable case of familial hyperlipidemia. ( 24426212 )
2013
7
Supravalvular aortic stenosis secondary to severe lipid accumulation in the ascending aorta in a patient with uncontrolled familial hyperlipidemia. ( 21918328 )
2011
8
Diffuse involvement of aorta in patient with familial hyperlipidemia. ( 22347657 )
2011
9
Antihyperlipidemic agents cause a decrease in von Willebrand factor levels in pediatric patients with familial hyperlipidemia. ( 21073119 )
2010
10
Pregnancy-induced severe gestational hyperlipidemia mimicking familial hyperlipidemia. ( 17097797 )
2008
11
Association between physical activity, adiposity, and lipid abnormalities in children with familial hyperlipidemia. ( 17301628 )
2007
12
[Apolipoprotein B is associated with metabolic syndrome in Chinese pedigrees with familial hyperlipidemia]. ( 15854507 )
2005
13
Apolipoprotein B as a marker of familial hyperlipoproteinemia. ( 15557711 )
2004
14
Micro- and macrocirculatory effects of apheresis in patients with familial hyperlipidemia. ( 12921126 )
2003
15
A randomized crossover trial of combination pharmacologic therapy in children with familial hyperlipidemia. ( 12032266 )
2002
16
[Familial hyperlipoproteinemias--correlations between phenotypes and genotypes]. ( 11262894 )
2000
17
[Favorable effect of treatment with statins on the intima of the common carotid artery in patients with familial hyperlipoproteinemia]. ( 9441006 )
1997
18
[Hypertriglyceridemia and plasma insulin in combined familial hyperlipidemia]. ( 9547191 )
1997
19
Atypical pyloric stenosis in an infant with familial hyperlipidemia. ( 8657477 )
1996
20
MR imaging of Achilles tendon in patients with familial hyperlipidemia: comparison with plain films, physical examination, and patients with traumatic tendon lesions. ( 7839978 )
1995
21
[Biochemical and functional study of the liver during treatment of familial hyperlipoproteinemia with Mevacor (lovastatin) and Vasosan S (cholestyramine)]. ( 7882060 )
1994
22
Adult cardiologists or hyperlipidemia experts have advocated no screening and no treatment for children with familial hyperlipidemia. ( 8435922 )
1993
23
Frequency and role of apo E phenotype in familial hypercholesterolemia and non-familial hyperlipidemia in the Japanese. ( 2375785 )
1990
24
Familial hyperlipidemia in stroke in the young. ( 3810712 )
1986
25
Familial hyperlipidemia in coronary atherosclerotic heart disease. ( 6619068 )
1983
26
Changes of serum total cholesterol and triglyceride levels in normal subjects in Japan in the past twenty years. Research committee on familial hyperlipidemia in Japan. ( 6655789 )
1983
27
Antithrombin functional activity after a fatty meal in normal subjects, familial hyperlipidemia, and nephrotic syndrome. ( 578151 )
1977
28
Familial hyperlipoproteinemia type III: deficiency of a specific apolipoprotein (apo E-III) in the very-low-density lipoproteins. ( 169165 )
1975
29
Glycogen storage disease previously reported as familial hyperlipidemia. ( 5215216 )
1965
30
THIN-LAYER CHROMATOGRAPHIC ANALYSIS OF PLASMA PHOSPHOLIPIDS IN ESSENTIAL FAMILIAL HYPERLIPIDEMIA. ( 14226394 )
1964

Variations for Familial Hyperlipidemia

ClinVar genetic disease variations for Familial Hyperlipidemia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GBA NM_001005741.2(GBA): c.1093G> A (p.Glu365Lys) single nucleotide variant risk factor rs2230288 GRCh37 Chromosome 1, 155206167: 155206167
2 GBA NM_001005741.2(GBA): c.1093G> A (p.Glu365Lys) single nucleotide variant risk factor rs2230288 GRCh38 Chromosome 1, 155236376: 155236376
3 PRMT7 NM_001290018.1(PRMT7): c.322G> T (p.Glu108Ter) single nucleotide variant Pathogenic rs1014959895 GRCh37 Chromosome 16, 68363008: 68363008
4 PRMT7 NM_001290018.1(PRMT7): c.322G> T (p.Glu108Ter) single nucleotide variant Pathogenic rs1014959895 GRCh38 Chromosome 16, 68329105: 68329105
5 PRMT7 NM_001290018.1(PRMT7): c.1713C> A (p.Cys571Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 68389688: 68389688
6 PRMT7 NM_001290018.1(PRMT7): c.1713C> A (p.Cys571Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 68355785: 68355785

Expression for Familial Hyperlipidemia

Search GEO for disease gene expression data for Familial Hyperlipidemia.

Pathways for Familial Hyperlipidemia

Pathways related to Familial Hyperlipidemia according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.77 APOA1 APOB APOC2 APOE CETP GBA
2
Show member pathways
13.08 APOA1 APOB APOE COG2 INS LDLR
3
Show member pathways
12.45 APOA1 APOB APOC2 APOE LDLR LPL
4
Show member pathways
12.19 APOA1 APOB APOC2 APOE CETP LCAT
5
Show member pathways
12.07 APOA1 APOB APOE INS LDLR SERPINE1
6
Show member pathways
11.96 APOA1 APOB APOC2 APOE LDLR LPL
7 11.77 INS LPL SERPINE1
8
Show member pathways
11.63 APOA1 APOB APOE
9 11.57 HMGCR INS LDLR LPL
10
Show member pathways
11.44 APOA1 APOB APOC2 APOE CETP HMGCR
11 10.89 APOA1 APOB
12 10.74 HMGCR LDLR

GO Terms for Familial Hyperlipidemia

Cellular components related to Familial Hyperlipidemia according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.88 APOA1 APOB APOE INS LIPC
2 extracellular matrix GO:0031012 9.85 APOA1 APOE LPL SERPINE1
3 early endosome GO:0005769 9.85 APOA1 APOB APOC2 APOE LDLR
4 clathrin-coated endocytic vesicle membrane GO:0030669 9.67 APOB APOE LDLR
5 very-low-density lipoprotein particle GO:0034361 9.65 APOA1 APOB APOC2 APOE LPL
6 intermediate-density lipoprotein particle GO:0034363 9.62 APOA1 APOB APOC2 APOE
7 endocytic vesicle lumen GO:0071682 9.61 APOA1 APOB APOE
8 endosome lumen GO:0031904 9.56 APOB INS
9 low-density lipoprotein particle GO:0034362 9.55 APOA1 APOB APOC2 APOE LDLR
10 spherical high-density lipoprotein particle GO:0034366 9.52 APOA1 APOC2
11 discoidal high-density lipoprotein particle GO:0034365 9.51 APOA1 APOE
12 chylomicron GO:0042627 9.35 APOA1 APOB APOC2 APOE LPL
13 high-density lipoprotein particle GO:0034364 9.1 APOA1 APOC2 APOE CETP LCAT LIPC
14 extracellular exosome GO:0070062 10.19 APOA1 APOB APOC2 APOE CETP GBA
15 extracellular space GO:0005615 10.15 APOA1 APOB APOC2 APOE CETP GBA
16 extracellular region GO:0005576 10.14 APOA1 APOB APOC2 APOE CETP INS

Biological processes related to Familial Hyperlipidemia according to GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.98 APOA1 APOB APOE INS
2 receptor-mediated endocytosis GO:0006898 9.97 APOA1 APOB APOE LDLR
3 retinoid metabolic process GO:0001523 9.97 APOA1 APOB APOC2 APOE LPL
4 lipid catabolic process GO:0016042 9.93 APOB APOC2 LIPC LPL
5 triglyceride catabolic process GO:0019433 9.93 APOA1 APOB APOE LIPC LPL
6 cholesterol transport GO:0030301 9.93 APOA1 APOB CETP LCAT LDLR LIPC
7 lipid metabolic process GO:0006629 9.93 APOA1 APOB APOC2 APOE CETP GBA
8 negative regulation of inflammatory response GO:0050728 9.9 APOA1 APOE GBA
9 low-density lipoprotein particle remodeling GO:0034374 9.89 APOB APOE CETP LIPC LPA
10 positive regulation of inflammatory response GO:0050729 9.88 LDLR LPL SERPINE1
11 cholesterol efflux GO:0033344 9.88 APOA1 APOB APOC2 APOE
12 lipoprotein metabolic process GO:0042157 9.88 APOA1 APOB APOE LDLR
13 chylomicron remodeling GO:0034371 9.88 APOA1 APOB APOC2 APOE LPL
14 triglyceride homeostasis GO:0070328 9.88 APOA1 APOC2 APOE CETP LIPC LPL
15 phospholipid metabolic process GO:0006644 9.87 APOA1 LCAT LPL
16 chylomicron assembly GO:0034378 9.86 APOA1 APOB APOC2 APOE
17 cholesterol metabolic process GO:0008203 9.86 APOA1 APOB APOE CETP HMGCR LCAT
18 lipoprotein biosynthetic process GO:0042158 9.85 APOA1 APOB APOE LCAT
19 reverse cholesterol transport GO:0043691 9.85 APOA1 APOC2 APOE CETP LCAT LIPC
20 phospholipid transport GO:0015914 9.83 APOA1 CETP LDLR
21 chylomicron remnant clearance GO:0034382 9.83 APOB APOC2 APOE LDLR LIPC
22 cholesterol biosynthetic process GO:0006695 9.82 APOA1 APOE HMGCR
23 negative regulation of MAP kinase activity GO:0043407 9.82 APOE GBA HMGCR
24 triglyceride metabolic process GO:0006641 9.81 APOE CETP LPL
25 positive regulation of lipid biosynthetic process GO:0046889 9.8 APOA1 APOE INS
26 high-density lipoprotein particle remodeling GO:0034375 9.8 APOA1 APOC2 APOE CETP LCAT LIPC
27 phosphatidylcholine metabolic process GO:0046470 9.79 APOA1 CETP LCAT
28 phospholipid efflux GO:0033700 9.79 APOA1 APOC2 APOE
29 regulation of protein metabolic process GO:0051246 9.78 APOE GBA LDLR
30 high-density lipoprotein particle clearance GO:0034384 9.77 APOA1 APOC2 APOE
31 lipoprotein catabolic process GO:0042159 9.77 APOB APOE LDLR
32 low-density lipoprotein particle clearance GO:0034383 9.73 APOB LDLR
33 positive regulation of endocytosis GO:0045807 9.73 APOE LDLR
34 artery morphogenesis GO:0048844 9.73 APOB APOE
35 positive regulation of nitric-oxide synthase activity GO:0051000 9.73 APOE INS
36 lipoprotein transport GO:0042953 9.72 APOB APOC2
37 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.72 APOB LPL
38 negative regulation of blood coagulation GO:0030195 9.72 APOE SERPINE1
39 negative regulation of wound healing GO:0061045 9.72 HMGCR SERPINE1
40 fatty acid homeostasis GO:0055089 9.71 APOE INS
41 high-density lipoprotein particle assembly GO:0034380 9.71 APOA1 APOE
42 positive regulation of fatty acid biosynthetic process GO:0045723 9.71 APOA1 APOC2
43 regulation of cholesterol metabolic process GO:0090181 9.71 APOE LDLR
44 positive regulation of lipoprotein lipase activity GO:0051006 9.71 APOA1 APOC2
45 negative regulation of blood vessel diameter GO:0097756 9.7 HMGCR INS
46 positive regulation of cholesterol esterification GO:0010873 9.7 APOA1 APOE
47 phospholipid homeostasis GO:0055091 9.7 APOA1 CETP
48 regulation of lipoprotein lipase activity GO:0051004 9.69 LIPC LPL
49 positive regulation of triglyceride catabolic process GO:0010898 9.69 APOA1 APOC2
50 neuron projection regeneration GO:0031102 9.68 APOA1 APOE

Molecular functions related to Familial Hyperlipidemia according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.77 APOA1 APOB APOC2 APOE CETP
2 phospholipid binding GO:0005543 9.71 APOA1 APOB APOE
3 protease binding GO:0002020 9.69 INS LDLR SERPINE1
4 amyloid-beta binding GO:0001540 9.67 APOA1 APOE LDLR
5 phosphatidylcholine binding GO:0031210 9.58 APOA1 CETP
6 triglyceride lipase activity GO:0004806 9.58 LIPC LPL
7 cholesterol binding GO:0015485 9.58 APOA1 APOE CETP
8 low-density lipoprotein particle receptor binding GO:0050750 9.57 APOB APOE
9 phospholipid transporter activity GO:0005548 9.56 APOA1 CETP
10 low-density lipoprotein particle binding GO:0030169 9.55 LDLR LIPC
11 heparin binding GO:0008201 9.55 APOB APOE LIPC LPA LPL
12 phospholipase activity GO:0004620 9.52 LIPC LPL
13 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.48 APOA1 APOE
14 lipoprotein particle binding GO:0071813 9.46 APOA1 APOE
15 lipase inhibitor activity GO:0055102 9.43 APOA1 APOC2
16 apolipoprotein binding GO:0034185 9.43 LIPC LPA LPL
17 triglyceride binding GO:0017129 9.32 CETP LPL
18 lipid transporter activity GO:0005319 9.26 APOA1 APOB APOE CETP
19 cholesterol transporter activity GO:0017127 8.92 APOA1 APOB APOE CETP

Sources for Familial Hyperlipidemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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