FHTR
MCID: HYP750
MIFTS: 60

Hypertriglyceridemia, Familial (FHTR)

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 74728003
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 apolipoprotein c-ii deficiency and hyperlipidemia, familial combined, 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 Omega 3 Fatty Acid have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and endothelial, and related phenotypes are hypertriglyceridemia and precocious atherosclerosis

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 211)
# Related Disease Score Top Affiliating Genes
1 apolipoprotein c-ii deficiency 32.2 LPL APOC2
2 hyperlipidemia, familial combined 31.6 LPL APOC3 APOC2 APOB APOA5 APOA1
3 hyperlipoproteinemia, type iv 31.5 LPL LIPI APOC3 APOC2 APOB APOA5
4 familial lipoprotein lipase deficiency 31.5 LPL LIPC APOC3 APOC2 APOA5
5 sea-blue histiocyte disease 31.3 APOE APOB
6 pancreatitis 31.3 LPL APOC2 APOA5
7 recurrent acute pancreatitis 30.4 LPL APOE
8 diabetes mellitus, noninsulin-dependent 30.2 LPL LIPC INS CETP APOE APOC3
9 glucose intolerance 30.1 LPL INS APOB
10 diabetes mellitus 29.9 LPL LIPC INS APOB APOA5 APOA1
11 uremia 29.8 LPL INS APOC3
12 lipase deficiency, combined 29.7 LPL LIPC
13 xanthoma disseminatum 29.6 APOE APOB
14 xanthomatosis 29.4 LPL APOE APOB
15 arteriosclerosis 29.4 INS APOE APOB APOA1
16 coronary artery anomaly 29.4 LPL CETP APOB APOA5 APOA1
17 diabetes mellitus, insulin-dependent 29.3 INS APOB APOA1
18 arteries, anomalies of 29.2 INS CETP APOE APOB APOA1
19 heart disease 29.2 LPL INS APOE APOC3 APOB APOA5
20 vascular disease 28.9 LPL INS CETP APOE APOB APOA1
21 tangier disease 28.7 LPL CETP APOE APOB APOA1
22 atherosclerosis susceptibility 28.6 INS CETP APOE APOB APOA1
23 myocardial infarction 28.4 INS CETP APOE APOC3 APOB APOA5
24 hyperlipoproteinemia, type iii 28.3 LPL LIPC CETP APOE APOB APOA5
25 coronary heart disease 1 28.3 LPL LIPC INS CETP APOE APOC3
26 familial hyperlipidemia 28.0 LPL LIPC INS CETP APOE APOC3
27 hypercholesterolemia, familial 27.8 LPL LIPC INS CETP APOE APOC3
28 lipid metabolism disorder 27.8 LPL LIPC INS CETP APOE APOC3
29 hypertriglyceridemia, transient infantile 12.7
30 lipodystrophy, familial partial, type 4 11.2
31 lipodystrophy, familial partial, type 2 11.1
32 lipodystrophy, congenital generalized, type 2 11.1
33 lipodystrophy, congenital generalized, type 1 11.1
34 lipodystrophy, congenital generalized, type 3 11.1
35 hyperlipoproteinemia, type i 10.9
36 glycogen storage disease ixa1 10.9
37 diabetes mellitus, noninsulin-dependent, 1 10.9
38 hemophagocytic lymphohistiocytosis, familial, 4 10.9
39 hemophagocytic lymphohistiocytosis, familial, 2 10.9
40 high density lipoprotein cholesterol level quantitative trait locus 1 10.9
41 lipodystrophy, familial partial, type 1 10.9
42 neutral lipid storage disease with myopathy 10.9
43 lipodystrophy, congenital generalized, type 4 10.9
44 lipodystrophy, familial partial, type 6 10.9
45 diabetes mellitus, noninsulin-dependent, 5 10.9
46 congenital generalized lipodystrophy 10.9
47 glycogen storage disease ixa 10.9
48 acute pancreatitis 10.7
49 diabetes mellitus, ketosis-prone 10.2
50 lymphocytic leukemia 10.2

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
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

Vascular:
precocious atherosclerosis

Skin:
atheroeruptive xanthoma


Clinical features from OMIM:

145750

Human phenotypes related to Hypertriglyceridemia, Familial:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypertriglyceridemia 32 HP:0002155
2 precocious atherosclerosis 32 HP:0004416
3 hypopituitarism 32 HP:0040075
4 abnormal glucose tolerance 32 HP:0001952
5 atheroeruptive xanthoma 32 HP:0001039
6 increased vldl cholesterol concentration 32 HP:0003362

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 APOE
2 Increased LDL uptake GR00340-A-1 8.8 APOA1 APOE LPL

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 APOE
2 liver/biliary system MP:0005370 9.1 APOA1 APOB APOE INS 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 Omega 3 Fatty Acid Phase 4
3 Clofibric Acid Phase 4 882-09-7
4 Calcium, Dietary Phase 4,Phase 3
5 Anticholesteremic Agents Phase 4,Phase 3
6 Antimetabolites Phase 4,Phase 3
7 Lipid Regulating Agents Phase 4,Phase 3
8 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3
9 Hypolipidemic Agents Phase 4,Phase 3
10 Rosuvastatin Calcium Phase 4 147098-20-2
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 Laxatives Early Phase 1
16 Gastrointestinal Agents Early Phase 1
17 Cathartics 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
Liver, Heart, Endothelial, Kidney, Bone, Brain, T Cells

Publications for Hypertriglyceridemia, Familial

Articles related to Hypertriglyceridemia, Familial:

(show top 50) (show all 349)
# Title Authors Year
1
Hypertriglyceridemia-Associated Drug-Induced Acute Pancreatitis. ( 30531242 )
2019
2
Pseudohyponatremia in Hypertriglyceridemia-Induced Acute Pancreatitis: A Tool for Diagnosis Rather Than Merely a Laboratory Error? ( 30540682 )
2019
3
Clinical whole exome sequencing in severe hypertriglyceridemia. ( 30389453 )
2019
4
Double filtration plasmapheresis in treatment of acute pancreatitis associated with severe hypertriglyceridemia: Three case reports. ( 30383651 )
2018
5
Low-Grade Inflammation in the Association Between Mild-to-Moderate Hypertriglyceridemia and Risk of Acute Pancreatitis: A Study of More Than 115000 Individuals from the General Population. ( 30518661 )
2018
6
Everolimus-Induced Severe Hypertriglyceridemia and Acute Pancreatitis in a Patient With Tuberous Sclerosis: A Case Report. ( 30074535 )
2018
7
The Effects of Laparoscopic Sleeve Gastrectomy on Obesity-Related Hypertriglyceridemia-Induced Acute Pancreatitis. ( 30094578 )
2018
8
Are There Differences in the Management of Acute Pancreatitis Cases Due to Severe Hypertriglyceridemia in Pregnant Women? ( 30100601 )
2018
9
Continuous intravenous infusion of insulin and heparin versus plasma exchange in hypertriglyceridemia-induced acute pancreatitis. ( 30117293 )
2018
10
Management of Hypertriglyceridemia Induced Acute Pancreatitis. ( 30148167 )
2018
11
A Rare Case of Acute Pancreatitis Due to Very Severe Hypertriglyceridemia (>10 000 mg/dL) Successfully Resolved With Insulin Therapy Alone: A Case Report and Literature Review. ( 30186885 )
2018
12
Abruptio Placentae Caused by Hypertriglyceridemia-Induced Acute Pancreatitis during Pregnancy: Case Report and Literature Review. ( 30254776 )
2018
13
Acute pancreatitis secondary to oral contraceptive-induced hypertriglyceridemia: a case report. ( 29782195 )
2018
14
Dilated cardiomyopathy secondary to acute pancreatitis caused by hypertriglyceridemia. ( 29876048 )
2018
15
Significantly different clinical features between hypertriglyceridemia and biliary acute pancreatitis: a retrospective study of 730 patients from a tertiary center. ( 29914404 )
2018
16
ACUTE PANCREATITIS IN PATIENTS WITH SEVERE HYPERTRIGLYCERIDEMIA IN A MULTI-ETHNIC MINORITY POPULATION. ( 29498913 )
2018
17
Hypertriglyceridemia-Induced Acute Pancreatitis with Normal Pancreatic Enzymes. ( 29530731 )
2018
18
Acute pancreatitis secondary to hypertriglyceridemia precipitated by diabetic ketoacidosis in a previously undiagnosed ketosis-prone patient with diabetes mellitus. ( 29706815 )
2018
19
CLINICAL CASE REPORT ON ACUTE PANCREATITIS WITH CONCOMITANT T2DM AND HYPERTRIGLYCERIDEMIA. ( 29745912 )
2018
20
Life-Threatening Hypertriglyceridemia in a Patient on Ruxolitinib and Sirolimus for Chronic Graft-versus-Host Disease. ( 30519495 )
2018
21
Association of APOA5 and APOC3 Genetic Polymorphisms With Severity of Hypertriglyceridemia in Patients With Cutaneous T-Cell Lymphoma Treated With Bexarotene. ( 30422238 )
2018
22
Effects of free omega-3 carboxylic acids and fenofibrate on liver fat content in patients with hypertriglyceridemia and non-alcoholic fatty liver disease: A double-blind, randomized, placebo-controlled study. ( 30197273 )
2018
23
Clinically Actionable Hypercholesterolemia and Hypertriglyceridemia in Children with Nonalcoholic Fatty Liver Disease. ( 29661561 )
2018
24
Recurrent pancreatitis due to autoimmune hypertriglyceridemia in a patient with Graves' disease. ( 29273424 )
2018
25
Hypertriglyceridemia Causing Continuous Renal Replacement Therapy Dysfunction in a Patient with End-stage Liver Disease. ( 30158750 )
2018
26
Nephrotic syndrome associated with severe hypertriglyceridemia in a pediatric patient: Questions. ( 29532231 )
2018
27
Nephrotic syndrome associated with severe hypertriglyceridemia in a pediatric patient: Answers. ( 29532233 )
2018
28
Therapeutic plasma exchange for hypertriglyceridemia induced acut pancreatitis: the 33 cases experience from a tertiary reference center in Turkey. ( 30289402 )
2018
29
Moderate Hypertriglyceridemia Causing Recurrent Pancreatitis: A Case Report and the Literature Review. ( 30345124 )
2018
30
Extreme hypertriglyceridemia: Genetic diversity, pancreatitis, pregnancy, and prevalence. ( 30352774 )
2018
31
Lipemia Retinalis, Macular Edema, and Vision Loss in a Diabetic Patient with a History of Type IV Hypertriglyceridemia and Pancreatitis. ( 30386228 )
2018
32
Hypertriglyceridemia-Induced Pancreatitis: A Case Series of 56 Patients from One Institution. ( 30454508 )
2018
33
Metabolic Pancreatitis: Pancreatic Steatosis, Hypertriglyceridemia, and Associated Chronic Pancreatitis in 3 Patients with Metabolic Syndrome. ( 30022925 )
2018
34
Total Plasma Exchange in Hypertriglyceridemia-Induced Pancreatitis: Case Report and Literature Review. ( 29686710 )
2018
35
The effect of intravenous insulin, apheresis and oral lipid-lowering agents on non-fasting hypertriglyceridemia and associated pancreatitis. ( 29702000 )
2018
36
Eruptive xanthoma in the setting of hypertriglyceridemia and pancreatitis. ( 29716801 )
2018
37
Hypertriglyceridemia-induced pancreatitis: updated review of current treatment and preventive strategies. ( 29923163 )
2018
38
The beneficial therapy with colchicine for atherosclerosis via anti-inflammation and decrease in hypertriglyceridemia. ( 30526472 )
2018
39
Metabolomics-Based Clinical Efficacy and Effect on the Endogenous Metabolites of Tangzhiqing Tablet, a Chinese Patent Medicine for Type 2 Diabetes Mellitus with Hypertriglyceridemia. ( 30140295 )
2018
40
Gallic Acid Alleviates Hypertriglyceridemia and Fat Accumulation via Modulating Glycolysis and Lipolysis Pathways in Perirenal Adipose Tissues of Rats Fed a High-Fructose Diet. ( 29342975 )
2018
41
Lipemia retinalis as the presenting sign of undiagnosed type 1 diabetes mellitus resulting in severe secondary hypertriglyceridemia. ( 30096374 )
2018
42
Higher Risk of Abdominal Obesity, Elevated Low-Density Lipoprotein Cholesterol, and Hypertriglyceridemia, but not of Hypertension, in People Living With Human Immunodeficiency Virus (HIV): Results From the Copenhagen Comorbidity in HIV Infection Study. ( 29471519 )
2018
43
Combination therapy of omega-3 fatty acids and acipimox for children with hypertriglyceridemia and acute lymphoblastic leukemia. ( 30055974 )
2018
44
Microduplication of 10q26.3 in a Chinese hypertriglyceridemia patient. ( 29129660 )
2018
45
Metformin attenuates myocardium dicarbonyl stress induced by chronic hypertriglyceridemia. ( 29137475 )
2018
46
Exchange transfusions for extreme hypertriglyceridemia in a 7-week-old infant with multi-organ failure. ( 29174071 )
2018
47
Intake of green-plant membrane with dietary oil suppresses postprandial hypertriglyceridemia in rats via promoting excretion of bile acids. ( 29207918 )
2018
48
Efficacy and Safety of Adding Omega-3 Fatty Acids in Statin-treated Patients with Residual Hypertriglyceridemia: ROMANTIC (Rosuvastatin-OMAcor iN residual hyperTrIglyCeridemia), a Randomized, Double-blind, and Placebo-controlled Trial. ( 29223557 )
2018
49
A common variant in ARHGEF10 alters delta-6 desaturase activity and influence susceptibility to hypertriglyceridemia. ( 29246731 )
2018
50
Images in Anesthesiology: A Clogged Dialysis Filter Caused by Severe Acutely Induced Hypertriglyceridemia. ( 29278533 )
2018

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 RP1 NM_006269.1(RP1): c.2953A> T (p.Asn985Tyr) single nucleotide variant Benign/Likely benign rs2293869 GRCh37 Chromosome 8, 55539395: 55539395
8 RP1 NM_006269.1(RP1): c.2953A> T (p.Asn985Tyr) single nucleotide variant Benign/Likely benign rs2293869 GRCh38 Chromosome 8, 54626835: 54626835
9 APOA5 NM_052968.4(APOA5): c.*158C> T single nucleotide variant risk factor rs2266788 GRCh37 Chromosome 11, 116660686: 116660686
10 APOA5 NM_052968.4(APOA5): c.*158C> T single nucleotide variant risk factor rs2266788 GRCh38 Chromosome 11, 116789970: 116789970

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 APOE
3
Show member pathways
12.23 APOA1 APOA4 APOA5 APOB APOC2 APOC3
4
Show member pathways
12.13 APOA1 APOB APOE INS
5
Show member pathways
12.03 APOA1 APOA4 APOB APOC2 APOC3 APOE
6 11.86 APOA1 APOA4 APOA5 APOE
7
Show member pathways
11.7 APOA1 APOB APOE
8 11.54 APOA1 APOA5 APOC3 LPL
9
Show member pathways
11.39 APOA1 APOA4 APOA5 APOB APOC2 APOC3
10
Show member pathways
11.3 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 16)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.98 APOA1 APOA4 APOA5 APOB APOE INS
2 early endosome GO:0005769 9.93 APOA1 APOA4 APOB APOC2 APOC3 APOE
3 collagen-containing extracellular matrix GO:0062023 9.83 APOA1 APOA4 APOC3 APOE
4 chylomicron GO:0042627 9.76 APOA1 APOA4 APOA5 APOB APOC2 APOC3
5 blood microparticle GO:0072562 9.72 APOA1 APOA4 APOE
6 low-density lipoprotein particle GO:0034362 9.72 APOA1 APOA5 APOB APOC2 APOE
7 endocytic vesicle lumen GO:0071682 9.67 APOA1 APOB APOE
8 spherical high-density lipoprotein particle GO:0034366 9.65 APOA1 APOC2 APOC3
9 intermediate-density lipoprotein particle GO:0034363 9.65 APOA1 APOB APOC2 APOC3 APOE
10 clathrin-coated endocytic vesicle membrane GO:0030669 9.56 APOB APOE
11 very-low-density lipoprotein particle GO:0034361 9.56 APOA1 APOA4 APOA5 APOB APOC2 APOC3
12 endosome lumen GO:0031904 9.54 APOB INS
13 discoidal high-density lipoprotein particle GO:0034365 9.51 APOA1 APOE
14 high-density lipoprotein particle GO:0034364 9.17 APOA1 APOA4 APOA5 APOC2 APOE CETP
15 extracellular region GO:0005576 10.15 APOA1 APOA4 APOA5 APOB APOC2 APOC3
16 extracellular space GO:0005615 10.14 APOA1 APOA4 APOA5 APOB APOC2 APOC3

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

(show top 50) (show all 57)
# Name GO ID Score Top Affiliating Genes
1 triglyceride metabolic process GO:0006641 9.99 APOA5 APOC3 APOE CETP LPL
2 lipoprotein metabolic process GO:0042157 9.99 APOA1 APOA4 APOA5 APOB APOC3 APOE
3 steroid metabolic process GO:0008202 9.97 APOA1 APOB APOE CETP
4 very-low-density lipoprotein particle remodeling GO:0034372 9.97 APOA1 APOA4 APOA5 APOC2 APOE CETP
5 positive regulation of lipid biosynthetic process GO:0046889 9.95 APOA1 APOA4 APOA5 APOE INS
6 cholesterol biosynthetic process GO:0006695 9.94 APOA1 APOA4 APOA5 APOE
7 cholesterol transport GO:0030301 9.92 APOA1 APOB CETP LIPC
8 chylomicron remnant clearance GO:0034382 9.92 APOB APOC2 APOC3 APOE LIPC
9 low-density lipoprotein particle remodeling GO:0034374 9.91 APOB APOE CETP LIPC
10 high-density lipoprotein particle assembly GO:0034380 9.91 APOA1 APOA4 APOA5 APOE
11 receptor-mediated endocytosis GO:0006898 9.9 APOA1 APOB APOE
12 positive regulation of cholesterol esterification GO:0010873 9.9 APOA1 APOA4 APOA5 APOE
13 regulation of cholesterol transport GO:0032374 9.88 APOA1 APOA4 APOA5 APOE
14 cholesterol efflux GO:0033344 9.87 APOA1 APOA4 APOA5 APOB APOC2 APOC3
15 lipid homeostasis GO:0055088 9.85 APOA4 APOE CETP
16 positive regulation of fatty acid biosynthetic process GO:0045723 9.84 APOA4 APOA5 APOC2
17 phosphatidylcholine metabolic process GO:0046470 9.83 APOA4 APOA5 CETP
18 high-density lipoprotein particle clearance GO:0034384 9.83 APOA1 APOC2 APOE
19 positive regulation of lipoprotein lipase activity GO:0051006 9.83 APOA4 APOA5 APOC2
20 positive regulation of triglyceride catabolic process GO:0010898 9.82 APOA4 APOA5 APOC2
21 regulation of Cdc42 protein signal transduction GO:0032489 9.82 APOA1 APOC3 APOE
22 lipoprotein biosynthetic process GO:0042158 9.81 APOA1 APOB APOE
23 regulation of intestinal cholesterol absorption GO:0030300 9.8 APOA1 APOA4 APOA5
24 chylomicron remodeling GO:0034371 9.8 APOA1 APOA4 APOB APOC2 APOC3 APOE
25 lipoprotein transport GO:0042953 9.72 APOB APOC2
26 artery morphogenesis GO:0048844 9.72 APOB APOE
27 positive regulation of nitric-oxide synthase activity GO:0051000 9.72 APOE INS
28 negative regulation of lipid catabolic process GO:0050995 9.71 APOC3 INS
29 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.71 APOB LPL
30 fatty acid homeostasis GO:0055089 9.71 APOE INS
31 very-low-density lipoprotein particle assembly GO:0034379 9.71 APOB APOC3
32 phospholipid homeostasis GO:0055091 9.7 APOA1 CETP
33 regulation of lipoprotein lipase activity GO:0051004 9.7 LIPC LPL
34 positive regulation of cholesterol storage GO:0010886 9.7 APOB LPL
35 negative regulation of receptor-mediated endocytosis GO:0048261 9.7 APOC2 APOC3
36 high-density lipoprotein particle remodeling GO:0034375 9.7 APOA1 APOA4 APOC2 APOC3 APOE CETP
37 very-low-density lipoprotein particle clearance GO:0034447 9.69 APOB APOE
38 negative regulation of lipid metabolic process GO:0045833 9.69 APOC2 APOC3
39 negative regulation of very-low-density lipoprotein particle clearance GO:0010916 9.69 APOC2 APOC3
40 positive regulation of dendritic spine maintenance GO:1902952 9.68 APOE INS
41 lipoprotein catabolic process GO:0042159 9.68 APOB APOE
42 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.68 APOA1 APOC3
43 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.68 APOA5 APOC2
44 positive regulation of very-low-density lipoprotein particle remodeling GO:0010902 9.67 APOA5 APOC2
45 chylomicron assembly GO:0034378 9.43 APOA1 APOA4 APOB APOC2 APOC3 APOE
46 phospholipid efflux GO:0033700 9.1 APOA1 APOA4 APOA5 APOC2 APOC3 APOE
47 lipid metabolic process GO:0006629 10.22 APOA1 APOB APOC2 APOC3 APOE CETP
48 cholesterol homeostasis GO:0042632 10.18 APOA1 APOA4 APOA5 APOB APOC2 APOC3
49 triglyceride homeostasis GO:0070328 10.11 APOA1 APOA4 APOA5 APOC2 APOC3 APOE
50 lipid transport GO:0006869 10.1 APOA1 APOA4 APOA5 APOB APOC2 APOC3

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.88 APOA5 APOB APOE LIPC LIPI LPL
2 phospholipid binding GO:0005543 9.85 APOA1 APOA4 APOA5 APOB APOC3 APOE
3 lipid binding GO:0008289 9.76 APOA1 APOA4 APOA5 APOB APOC2 APOC3
4 carboxylic ester hydrolase activity GO:0052689 9.72 LIPC LIPI LPL
5 lipid transporter activity GO:0005319 9.72 APOA1 APOA4 APOB APOE CETP
6 phosphatidylcholine binding GO:0031210 9.67 APOA4 APOA5 CETP
7 low-density lipoprotein particle receptor binding GO:0050750 9.65 APOA5 APOB APOE
8 phospholipase activity GO:0004620 9.63 LIPC LIPI LPL
9 lipase inhibitor activity GO:0055102 9.61 APOA1 APOC2 APOC3
10 antioxidant activity GO:0016209 9.6 APOA4 APOE
11 triglyceride lipase activity GO:0004806 9.59 LIPC LPL
12 phospholipid transporter activity GO:0005548 9.58 APOA1 CETP
13 apolipoprotein binding GO:0034185 9.58 LIPC LPL
14 lipase binding GO:0035473 9.57 APOA5 APOB
15 lipoprotein particle binding GO:0071813 9.56 APOA1 APOE
16 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.56 APOA1 APOA4 APOA5 APOE
17 high-density lipoprotein particle receptor binding GO:0070653 9.54 APOA1 APOC3
18 lipoprotein lipase activator activity GO:0060230 9.52 APOA5 APOC2
19 triglyceride binding GO:0017129 9.51 CETP LPL
20 cholesterol binding GO:0015485 9.43 APOA1 APOA4 APOA5 APOC3 APOE CETP
21 cholesterol transporter activity GO:0017127 9.1 APOA1 APOA4 APOA5 APOB APOE 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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