MCID: HYP750
MIFTS: 45

Hypertriglyceridemia, Familial

Categories: Genetic diseases, Liver diseases, Rare diseases

Aliases & Classifications for Hypertriglyceridemia, Familial

MalaCards integrated aliases for Hypertriglyceridemia, Familial:

Name: Hypertriglyceridemia, Familial 57 75 13 40
Hypertriglyceridemia 57 37 29 55 6 40 73
Hypertriglyceridemia, Susceptibility to 57 6
Fhtr 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hypertriglyceridemia, familial:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 145750
MedGen 42 C0020480
MeSH 44 D006953
KEGG 37 H01637
SNOMED-CT via HPO 69 263681008
UMLS 73 C0020557

Summaries for Hypertriglyceridemia, Familial

OMIM : 57 Most individuals with familial hypertriglyceridemia have a hyperlipoproteinemia IV (144600) phenotype. Relatives of affected persons (ascertained in a study of survivors of coronary occlusion) were found to have normal cholesterol distribution and bimodal triglyceride distribution (Goldstein et al., 1973). Hypertriglyceridemia is not completely expressed in affected children. (145750)

MalaCards based summary : Hypertriglyceridemia, Familial, also known as hypertriglyceridemia, is related to familial lipoprotein lipase deficiency and hyperlipoproteinemia, type iv, and has symptoms including hypertriglyceridemic waist An important gene associated with Hypertriglyceridemia, Familial is LIPI (Lipase I), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Metformin and Clofibric Acid have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are atheroeruptive xanthoma and abnormal glucose tolerance

UniProtKB/Swiss-Prot : 75 Hypertriglyceridemia, familial: A common inherited disorder in which the concentration of very low density lipoprotein (VLDL) is elevated in the plasma. This leads to increased risk of heart disease, obesity, and pancreatitis.

Related Diseases for Hypertriglyceridemia, Familial

Diseases in the Hypertriglyceridemia, Familial family:

Hypertriglyceridemia, Transient Infantile

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 familial lipoprotein lipase deficiency 30.8 APOA5 APOC2 LIPC LPL
2 hyperlipoproteinemia, type iv 27.1 APOA1 APOA5 APOB APOC2 APOC3 LIPC
3 hypertriglyceridemia, transient infantile 12.4
4 lipase deficiency, combined 10.3 LIPC LPL
5 apolipoprotein c-ii deficiency 10.2 APOC2 LPL
6 hypercholesterolemia, autosomal dominant, type b 10.2 APOB LDLR
7 defective apolipoprotein b-100 10.1 APOB LDLR
8 aortic atherosclerosis 10.1 CETP LDLR
9 lipoprotein glomerulopathy 10.1 APOB LDLR
10 uremia 10.0 APOC3 INS LPL
11 xanthomatosis 9.8 APOB LDLR LPL
12 pancreatitis 9.8 APOA5 APOC2 LPL
13 familial partial lipodystrophy 9.6
14 partial lipodystrophy 9.6
15 prediabetes syndrome 9.6 APOB INS
16 hyperlipoproteinemia, type v 9.6 APOA5 APOC2 INS LPL
17 bardet-biedl syndrome 2 9.5 APOA1 APOC3 LPL
18 hepatic lipase deficiency 9.5 APOA1 LIPC LPL
19 leukodystrophy, hypomyelinating, 3 9.4 APOA1 APOB
20 dysbaric osteonecrosis 9.4 APOA1 APOB
21 homozygous familial hypercholesterolemia 9.4 APOB LDLR LIPC LPL
22 hypobetalipoproteinemia, familial, 1 9.3 APOA1 APOB LDLR
23 vitamin e, familial isolated deficiency of 9.3 APOA1 APOB
24 hypolipoproteinemia 9.2 APOA1 APOB LPL
25 chylomicron retention disease 9.2 APOA1 APOB
26 fetal macrosomia 9.2 APOA1 APOB INS
27 inherited metabolic disorder 9.1 APOA1 APOB INS
28 arteriosclerosis 9.0 APOA1 APOB INS
29 coronary stenosis 9.0 APOA1 APOB CETP
30 hyperlipidemia, combined, 1 9.0 APOA5 APOB APOC3 LIPC LPL
31 cerebrovascular disease 8.8 APOA1 APOB INS LDLR
32 ischemic heart disease 8.8 APOA1 APOB INS LPL
33 arcus corneae 8.7 APOA1 APOB CETP LDLR
34 hypertension, essential 8.7 APOA1 APOB INS LPL
35 abetalipoproteinemia 8.7 APOA1 APOB CETP LPL
36 tangier disease 8.6 APOA1 APOB CETP LPL
37 gallbladder disease 8.6 APOA1 APOB CETP INS
38 hyperlipidemia, familial combined 8.5 APOA1 APOA5 APOB APOC3 LPL
39 diabetes mellitus, insulin-dependent 8.4 APOA1 APOB INS
40 arteries, anomalies of 8.3 APOA1 APOB CETP INS LDLR
41 atherosclerosis susceptibility 8.3 APOA1 APOB CETP INS LDLR
42 diabetes mellitus 8.2 APOA1 APOA5 APOB INS LIPC
43 vascular disease 7.8 APOA1 APOB CETP INS LDLR LPL
44 heart disease 7.7 APOA1 APOA5 APOB APOC3 INS LDLR
45 hyperlipoproteinemia, type iii 7.5 APOA1 APOA5 APOB CETP LDLR LIPC
46 myocardial infarction 7.5 APOA1 APOA5 APOB APOC3 CETP INS
47 hyperalphalipoproteinemia 1 7.4 APOA1 APOB APOC3 CETP LDLR LIPC
48 hypoalphalipoproteinemia, primary 7.4 APOA1 APOB APOC3 CETP LDLR LIPC
49 lecithin:cholesterol acyltransferase deficiency 7.3 APOA1 APOB APOC2 APOC3 CETP LDLR
50 familial hyperlipidemia 6.7 APOA1 APOB APOC2 CETP INS LDLR

Graphical network of the top 20 diseases related to Hypertriglyceridemia, Familial:



Diseases related to Hypertriglyceridemia, Familial

Symptoms & Phenotypes for Hypertriglyceridemia, Familial

Symptoms via clinical synopsis from OMIM:

57
Vascular:
precocious atherosclerosis

Skin:
atheroeruptive xanthoma

Lab:
hypertriglyceridemia
increased plasma vldl
plasma cholesterol and phospholipids usually normal
apolipoprotein c-ii deficiency

Metabolic:
abnormal glucose tolerance

Misc:
phenotype environmentally influenced, esp. by carbohydrate and ethanol consumption, uremia, hypopituitarism, contraceptive steroids, and glycogen storage disease i


Clinical features from OMIM:

145750

Human phenotypes related to Hypertriglyceridemia, Familial:

32
# Description HPO Frequency HPO Source Accession
1 atheroeruptive xanthoma 32 HP:0001039
2 abnormal glucose tolerance 32 HP:0001952
3 hypertriglyceridemia 32 HP:0002155
4 Increased circulating very-low-density lipoprotein levels 32 HP:0003362
5 precocious atherosclerosis 32 HP:0004416

UMLS symptoms related to Hypertriglyceridemia, Familial:


hypertriglyceridemic waist

GenomeRNAi Phenotypes related to Hypertriglyceridemia, Familial 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 APOA4 APOA5 APOB APOC3 CETP
2 Increased LDL uptake GR00340-A-1 8.8 LDLR LPL APOA1

MGI Mouse Phenotypes related to Hypertriglyceridemia, Familial:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.65 APOA1 APOA4 APOA5 APOB APOC2 INS
2 liver/biliary system MP:0005370 9.1 APOA1 APOB INS LDLR LIPI LPL

Drugs & Therapeutics for Hypertriglyceridemia, Familial

Drugs for Hypertriglyceridemia, Familial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2 Clofibric Acid Phase 4 882-09-7
3 Anticholesteremic Agents Phase 4,Phase 3
4 Antimetabolites Phase 4,Phase 3
5 Calcium, Dietary Phase 4,Phase 3
6 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3
7 Hypolipidemic Agents Phase 4,Phase 3
8 Lipid Regulating Agents Phase 4,Phase 3
9 Rosuvastatin Calcium Phase 4 147098-20-2
10 Omega 3 Fatty Acid Nutraceutical Phase 4
11
Torcetrapib Investigational Phase 3 262352-17-0 159325
12 Atorvastatin Calcium Phase 3 134523-03-8
13
chenodeoxycholic acid Approved Early Phase 1 474-25-9 10133
14
Mannitol Approved, Investigational Early Phase 1 69-65-8 453 6251
15 Cathartics Early Phase 1
16 Gastrointestinal Agents Early Phase 1
17 Laxatives Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Triglyceride Lowering Study Unknown status NCT00934219 Phase 4 Omega-3-Acid Ethyl Esters
2 Effect of Rosuvastatin on Triglyceride Levels in Mexican Hypertriglyceridemic Patients Completed NCT00473655 Phase 4 rosuvastatin
3 A Study Comparing The Efficacy & Safety Of Torcetrapib/Atorvastatin And Atorvastatin In Subjects With High Triglycerides Completed NCT00134498 Phase 3 torcetrapib/atorvastatin;atorvastatin
4 Effects of FXR Activation on Hepatic Lipid and Glucose Metabolism Completed NCT00465751 Early Phase 1 chenodeoxycholic acid;placebo capsules
5 Genetic Epidemiology of Hypertriglyceridemia Completed NCT00005368
6 Effects of Exercise on Fructose-induced Postprandial Lipemia Completed NCT03173495 Not Applicable
7 Milk as a Recovery Beverage After Exercise for Improving Metabolic Health Recruiting NCT03154216 Not Applicable

Search NIH Clinical Center for Hypertriglyceridemia, Familial

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


Genetic Tests for Hypertriglyceridemia, Familial

Genetic tests related to Hypertriglyceridemia, Familial:

# Genetic test Affiliating Genes
1 Hypertriglyceridemia 29

Anatomical Context for Hypertriglyceridemia, Familial

MalaCards organs/tissues related to Hypertriglyceridemia, Familial:

41
Heart

Publications for Hypertriglyceridemia, Familial

Variations for Hypertriglyceridemia, Familial

UniProtKB/Swiss-Prot genetic disease variations for Hypertriglyceridemia, Familial:

75
# Symbol AA change Variation ID SNP ID
1 LIPI p.Cys55Tyr VAR_023760 rs11909217

ClinVar genetic disease variations for Hypertriglyceridemia, Familial:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LIPI NM_198996.3(LIPI): c.227G> A (p.Cys76Tyr) single nucleotide variant risk factor rs11909217 GRCh37 Chromosome 21, 15561623: 15561623
2 LIPI NM_198996.3(LIPI): c.227G> A (p.Cys76Tyr) single nucleotide variant risk factor rs11909217 GRCh38 Chromosome 21, 14189302: 14189302
3 APOA5 NM_052968.4(APOA5): c.553G> T (p.Gly185Cys) single nucleotide variant risk factor rs2075291 GRCh37 Chromosome 11, 116661392: 116661392
4 APOA5 NM_052968.4(APOA5): c.553G> T (p.Gly185Cys) single nucleotide variant risk factor rs2075291 GRCh38 Chromosome 11, 116790676: 116790676
5 APOA5 NM_052968.4(APOA5): c.56C> G (p.Ser19Trp) single nucleotide variant risk factor rs3135506 GRCh37 Chromosome 11, 116662407: 116662407
6 APOA5 NM_052968.4(APOA5): c.56C> G (p.Ser19Trp) single nucleotide variant risk factor rs3135506 GRCh38 Chromosome 11, 116791691: 116791691
7 APOA5 NM_052968.4(APOA5): c.*158C> T single nucleotide variant risk factor rs2266788 GRCh37 Chromosome 11, 116660686: 116660686
8 APOA5 NM_052968.4(APOA5): c.*158C> T single nucleotide variant risk factor rs2266788 GRCh38 Chromosome 11, 116789970: 116789970
9 46;XY;t(16;20)(q23.1;p11.22) Translocation Uncertain significance

Expression for Hypertriglyceridemia, Familial

Search GEO for disease gene expression data for Hypertriglyceridemia, Familial.

Pathways for Hypertriglyceridemia, Familial

Pathways related to Hypertriglyceridemia, Familial according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 APOA1 APOA4 APOA5 APOB APOC2 APOC3
2
Show member pathways
12.41 APOA1 APOA4 APOB APOC2 APOC3 LDLR
3
Show member pathways
12.23 APOA1 APOA4 APOA5 APOB APOC2 APOC3
4
Show member pathways
12.11 APOA1 APOB INS LDLR
5
Show member pathways
12.03 APOA1 APOA4 APOB APOC2 APOC3 LDLR
6 11.79 APOA1 APOA4 APOA5
7 11.53 INS LDLR LPL
8 11.53 APOA1 APOA5 APOC3 LPL
9
Show member pathways
11.39 APOA1 APOA4 APOA5 APOB APOC2 APOC3
10
Show member pathways
11.28 APOA1 APOA4 APOB
11 11.02 APOA1 APOA5 APOC3
12 10.96 APOA1 APOA4 APOB
13 10.8 APOA1 APOA4

GO Terms for Hypertriglyceridemia, Familial

Cellular components related to Hypertriglyceridemia, Familial according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.93 APOA1 APOA4 APOA5 APOB INS LIPC
2 early endosome GO:0005769 9.91 APOA1 APOA4 APOB APOC2 APOC3 LDLR
3 cell surface GO:0009986 9.87 APOA1 APOA4 LDLR LPL
4 extracellular matrix GO:0031012 9.8 APOA1 APOA4 APOC3 LPL
5 blood microparticle GO:0072562 9.71 APOA1 APOA4 APOA5
6 spherical high-density lipoprotein particle GO:0034366 9.65 APOA1 APOC2 APOC3
7 low-density lipoprotein particle GO:0034362 9.65 APOA1 APOA5 APOB APOC2 LDLR
8 high-density lipoprotein particle GO:0034364 9.63 APOA1 APOA4 APOA5 APOC2 CETP LIPC
9 intermediate-density lipoprotein particle GO:0034363 9.62 APOA1 APOB APOC2 APOC3
10 clathrin-coated endocytic vesicle membrane GO:0030669 9.56 APOB LDLR
11 endosome lumen GO:0031904 9.52 APOB INS
12 endocytic vesicle lumen GO:0071682 9.51 APOA1 APOB
13 very-low-density lipoprotein particle GO:0034361 9.5 APOA1 APOA4 APOA5 APOB APOC2 APOC3
14 chylomicron GO:0042627 9.17 APOA1 APOA4 APOA5 APOB APOC2 APOC3
15 extracellular region GO:0005576 10.14 APOA1 APOA4 APOA5 APOB APOC2 APOC3
16 extracellular space GO:0005615 10.11 APOA1 APOA4 APOA5 APOB APOC2 APOC3
17 extracellular exosome GO:0070062 10.09 APOA1 APOA4 APOB APOC2 APOC3 CETP

Biological processes related to Hypertriglyceridemia, Familial according to GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Name GO ID Score Top Affiliating Genes
1 cholesterol transport GO:0030301 9.97 APOA1 APOB CETP LDLR LIPC
2 steroid metabolic process GO:0008202 9.96 APOA1 APOB CETP LDLR
3 cholesterol efflux GO:0033344 9.95 APOA1 APOA4 APOA5 APOB APOC2 APOC3
4 lipoprotein metabolic process GO:0042157 9.93 APOA1 APOA4 APOA5 APOB APOC3 LDLR
5 triglyceride metabolic process GO:0006641 9.92 APOA5 APOC3 CETP LPL
6 phospholipid efflux GO:0033700 9.92 APOA1 APOA4 APOA5 APOC2 APOC3
7 triglyceride homeostasis GO:0070328 9.92 APOA1 APOA4 APOA5 APOC2 APOC3 CETP
8 positive regulation of lipid biosynthetic process GO:0046889 9.91 APOA1 APOA4 APOA5 INS
9 phosphatidylcholine metabolic process GO:0046470 9.91 APOA1 APOA4 APOA5 CETP
10 chylomicron assembly GO:0034378 9.91 APOA1 APOA4 APOB APOC2 APOC3
11 positive regulation of fatty acid biosynthetic process GO:0045723 9.9 APOA1 APOA4 APOA5 APOC2
12 receptor-mediated endocytosis GO:0006898 9.89 APOA1 APOB LDLR
13 positive regulation of lipoprotein lipase activity GO:0051006 9.89 APOA1 APOA4 APOA5 APOC2
14 chylomicron remnant clearance GO:0034382 9.89 APOB APOC2 APOC3 LDLR LIPC
15 positive regulation of triglyceride catabolic process GO:0010898 9.88 APOA1 APOA4 APOA5 APOC2
16 high-density lipoprotein particle remodeling GO:0034375 9.88 APOA1 APOA4 APOC2 APOC3 CETP LIPC
17 phospholipid transport GO:0015914 9.85 APOA1 CETP LDLR
18 cholesterol biosynthetic process GO:0006695 9.85 APOA1 APOA4 APOA5
19 high-density lipoprotein particle assembly GO:0034380 9.82 APOA1 APOA4 APOA5
20 low-density lipoprotein particle remodeling GO:0034374 9.82 APOB CETP LIPC
21 positive regulation of cholesterol esterification GO:0010873 9.81 APOA1 APOA4 APOA5
22 neuron projection regeneration GO:0031102 9.81 APOA1 APOA4 APOA5
23 regulation of cholesterol transport GO:0032374 9.8 APOA1 APOA4 APOA5
24 very-low-density lipoprotein particle remodeling GO:0034372 9.8 APOA1 APOA4 APOA5 APOC2 CETP LIPC
25 regulation of intestinal cholesterol absorption GO:0030300 9.79 APOA1 APOA4 APOA5
26 lipid homeostasis GO:0055088 9.72 APOA4 CETP
27 low-density lipoprotein particle clearance GO:0034383 9.71 APOB LDLR
28 negative regulation of lipid catabolic process GO:0050995 9.71 APOC3 INS
29 lipoprotein transport GO:0042953 9.71 APOB APOC2
30 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.71 APOB LPL
31 very-low-density lipoprotein particle assembly GO:0034379 9.71 APOB APOC3
32 high-density lipoprotein particle clearance GO:0034384 9.7 APOA1 APOC2
33 phospholipid homeostasis GO:0055091 9.7 APOA1 CETP
34 regulation of lipoprotein lipase activity GO:0051004 9.7 LIPC LPL
35 regulation of Cdc42 protein signal transduction GO:0032489 9.7 APOA1 APOC3
36 triglyceride catabolic process GO:0019433 9.7 APOA1 APOA4 APOA5 APOB APOC3 LIPC
37 positive regulation of cholesterol storage GO:0010886 9.69 APOB LPL
38 negative regulation of receptor-mediated endocytosis GO:0048261 9.69 APOC2 APOC3
39 lipoprotein biosynthetic process GO:0042158 9.69 APOA1 APOB
40 cholesterol import GO:0070508 9.68 APOA1 LDLR
41 negative regulation of very-low-density lipoprotein particle clearance GO:0010916 9.68 APOC2 APOC3
42 negative regulation of lipid metabolic process GO:0045833 9.68 APOC2 APOC3
43 lipoprotein catabolic process GO:0042159 9.68 APOB LDLR
44 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.67 APOA1 APOC3
45 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.66 APOA5 APOC2
46 positive regulation of very-low-density lipoprotein particle remodeling GO:0010902 9.66 APOA5 APOC2
47 reverse cholesterol transport GO:0043691 9.5 APOA1 APOA4 APOA5 APOC2 APOC3 CETP
48 chylomicron remodeling GO:0034371 9.1 APOA1 APOA4 APOB APOC2 APOC3 LPL
49 lipid metabolic process GO:0006629 10.2 APOA1 APOB APOC2 APOC3 CETP LDLR
50 lipid catabolic process GO:0016042 10.08 APOA4 APOB APOC2 APOC3 LIPC LIPI

Molecular functions related to Hypertriglyceridemia, Familial according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.85 APOA5 APOB LIPC LIPI LPL
2 phospholipid binding GO:0005543 9.77 APOA1 APOA4 APOA5 APOB APOC3
3 carboxylic ester hydrolase activity GO:0052689 9.71 LIPC LIPI LPL
4 lipid binding GO:0008289 9.7 APOA1 APOA4 APOA5 APOB APOC2 APOC3
5 phospholipase activity GO:0004620 9.65 LIPC LIPI LPL
6 phosphatidylcholine binding GO:0031210 9.62 APOA1 APOA4 APOA5 CETP
7 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.61 APOA1 APOA4 APOA5
8 triglyceride lipase activity GO:0004806 9.59 LIPC LPL
9 low-density lipoprotein particle receptor binding GO:0050750 9.58 APOA5 APOB
10 phospholipid transporter activity GO:0005548 9.58 APOA1 CETP
11 lipase inhibitor activity GO:0055102 9.58 APOA1 APOC2 APOC3
12 low-density lipoprotein particle binding GO:0030169 9.57 LDLR LIPC
13 apolipoprotein binding GO:0034185 9.56 LIPC LPL
14 lipid transporter activity GO:0005319 9.56 APOA1 APOA4 APOB CETP
15 lipase binding GO:0035473 9.55 APOA5 APOB
16 high-density lipoprotein particle receptor binding GO:0070653 9.52 APOA1 APOC3
17 lipoprotein lipase activator activity GO:0060230 9.51 APOA5 APOC2
18 triglyceride binding GO:0017129 9.49 CETP LPL
19 cholesterol binding GO:0015485 9.35 APOA1 APOA4 APOA5 APOC3 CETP
20 cholesterol transporter activity GO:0017127 9.02 APOA1 APOA4 APOA5 APOB CETP

Sources for Hypertriglyceridemia, Familial

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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