MCID: FML016
MIFTS: 48

Familial Hypertriglyceridemia malady

Genetic category

Summaries for Familial Hypertriglyceridemia

Sources:
8Disease Ontology, 64Wikipedia, 47OMIM, 33MalaCards
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Disease Ontology:8 A lipid metabolism disorder characterized by elevated triglyceride levels as a result of excess hepatic production of vldl or heterozygous lpl deficiency.

MalaCards: Familial Hypertriglyceridemia, also known as hypertriglyceridemias familial, is related to hypertriglyceridemia and familial combined hyperlipidemia. An important gene associated with Familial Hypertriglyceridemia is SLC10A2 (solute carrier family 10 (sodium/bile acid cotransporter), member 2), and among its related pathways are Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF) and Vitamin digestion and absorption. The compounds alpha tocopherol and maxepa have been mentioned in the context of this disorder. Affiliated tissues include liver, lung and heart, and related mouse phenotypes are cardiovascular system and liver/biliary system.

Wikipedia:64 Familial hypertriglyceridemia is an autosomal dominant condition occurring in approximately 1% of the... more...

Description from OMIM:47 145750

Aliases & Classifications for Familial Hypertriglyceridemia

Sources:
8Disease Ontology, 22GTR, 10DISEASES, 61UMLS, 45Novoseek, 47OMIM
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

familial hypertriglyceridemia 8 22 10
hypertriglyceridemias familial 45
hyperlipoproteinemia type iv 61
pure hyperglyceridemia 8


External Ids:

Disease Ontology8 DOID:0050527
OMIM47 145750

Related Diseases for Familial Hypertriglyceridemia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the hypertriglyceridemia family:

familial hypertriglyceridemia

Diseases related to Familial Hypertriglyceridemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1hypertriglyceridemia31.2APOA5, LIPI
2familial combined hyperlipidemia30.6APOA1, APOE, APOB
3coronary heart disease30.1APOA1, APOE, APOA5, APOC3, APOA2, APOB
4familial hypercholesterolemia29.9APOA1, APOE, APOB, LPL
5hypercholesterolemia29.9SLC10A2, LPL, APOB, APOA1, APOE, APOC3
6coronary artery disease,29.9APOA1, APOE, APOA5, APOC3, APOA2, APOB
7hyperlipoproteinemia type iv10.5
8acanthosis nigricans10.2
9n syndrome10.2
10acute pancreatitis10.0
11familial lipoprotein lipase deficiency10.0
12alcoholic liver cirrhosis10.0
13cardiovascular disease risk factor10.0
14lip disease10.0
15polyneuropathy10.0APOA2
16hyperthyroidism10.0APOA2
17cholestasis10.0SLC10A2
18hypothyroidism10.0APOB
19lipoprotein lipase deficiency10.0LPL
20pancreatitis10.0LPL
21hepatitis c10.0LPL
22chylomicron retention disease10.0APOB
23thromboembolism10.0APOA1
24steatorrhea10.0SLC10A2
25lipoprotein glomerulopathy10.0APOE
26vascular dementia10.0APOE
27hyperhomocysteinemia10.0APOE
28cerebral atherosclerosis10.0APOA1
29uremia10.0LPL, APOC3
30polycystic ovary syndrome10.0APOA1
31complete lcat deficiency10.0APOA2, APOA1
32hyperlipoproteinemia type v10.0APOE, LPL
33abdominal aortic aneurysm10.0APOE
34fish-eye disease10.0APOA1, APOA2
35acute myocardial infarction10.0APOA1, APOB
36age related macular degeneration10.0APOE, APOB
37hyperglycemia10.0LPL, APOB
38coronary stenosis10.0APOB, APOA1
39amyloidosis, renal10.0APOA2, APOA1
40arcus senilis10.0APOA1, APOB
41lipodystrophy10.0LPL, APOB, APOC3
42glucose intolerance10.0SLC10A2, APOB
43peripheral vascular disease10.0APOA1, APOB
44lipase deficiency combined10.0LPL, LMF1
45dementia10.0LPL, APOE
46xanthomatosis10.0APOE, APOB, LPL
47alzheimer's disease10.0APOE, APOC3, APOB
48hepatoblastoma10.0APOB, APOA2, APOA1
49essential hypertension10.0LPL, APOB, APOA1
50arteriosclerosis10.0LPL, APOB, APOA1

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



Diseases related to familial hypertriglyceridemia

Clinical Features for Familial Hypertriglyceridemia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

145750

Drugs & Therapeutics for Familial Hypertriglyceridemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Familial Hypertriglyceridemia

Drug clinical trials:

Search ClinicalTrials for Familial Hypertriglyceridemia

Search NIH Clinical Center for Familial Hypertriglyceridemia

Search CenterWatch for Familial Hypertriglyceridemia

Genetic Tests for Familial Hypertriglyceridemia

Sources:
22GTR
See all sources

Genetic tests related to Familial Hypertriglyceridemia:

id Genetic test Affiliating Genes
1 Familial Hypertriglyceridemia22

Anatomical Context for Familial Hypertriglyceridemia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Familial Hypertriglyceridemia:

33
Liver, Lung, Heart, B cells

Animal Models for Familial Hypertriglyceridemia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Familial Hypertriglyceridemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.3APOE, APOC3, APOB, LPL, LMF1, APOA1
2MP:00053706.7APOA1, APOE, APOB, LPL, LIPI, LMF1
3MP:00053786.5APOE, APOC3, APOA2, APOB, LPL, LIPI
4MP:00053765.9SLC10A2, APOA1, APOE, APOA5, APOC3, APOA2

Publications for Familial Hypertriglyceridemia

Sources:
51PubMed
See all sources

Articles related to Familial Hypertriglyceridemia:

(show top 50)    (show all 53)
idTitleAuthorsYear
1
The interaction of familial and secondary causes of hypertriglyceridemia: role in pancreatitis. (23009776)
2012
2
Premature atherosclerosis in a Japanese diabetic patient with atypical familial partial lipodystrophy and hypertriglyceridemia. (22989829)
2012
3
Management of Familial Hypertriglyceridemia-Induced Pancreatitis During Pregnancy With Therapeutic Plasma Exchange: A Case Report and Review of Literature. (22926234)
2012
4
Serum ferritin is a major determinant of lipid phenotype in familial combined hyperlipidemia and familial hypertriglyceridemia. (19913843)
2010
5
Iron deposits and dietary patterns in familial combined hyperlipidemia and familial hypertriglyceridemia. (20645139)
2010
6
Management of familial hypertriglyceridemia during pregnancy with plasma exchange. (19160449)
2009
7
Plasma PAI-1 levels are independently related to fatty liver and hypertriglyceridemia in familial combined hyperlipidemia, involvement of apolipoprotein E. (18262228)
2008
8
Familial hypertriglyceridemia. (19057857)
2008
9
Apolipoprotein B is associated with metabolic syndrome in Chinese families with familial combined hyperlipidemia, familial hypertriglyceridemia and familial hypercholesterolemia. (16828905)
2007
10
Severe, gestational, non-familial, non-genetic hypertriglyceridemia. (17441893)
2007
11
Hypertriglyceridemia is associated with prebeta-HDL concentrations in subjects with familial low HDL. (15897606)
2005
12
Genome-wide scan for quantitative trait loci influencing LDL size and plasma triglyceride in familial hypertriglyceridemia. (12923221)
2003
13
Coronary artery disease risk in familial combined hyperlipidemia and familial hypertriglyceridemia: a case-control comparison from the National Heart, Lung, and Blood Institute Family Heart Study. (12847072)
2003
14
An observational study of severe hypertriglyceridemia, hypertriglyceridemic acute pancreatitis, and failure of triglyceride-lowering therapy when estrogens are given to women with and without familial hypertriglyceridemia. (12763274)
2003
15
Lipoprotein(a) as a risk factor for maternal cardiovascular disease mortality in kindreds with familial combined hyperlipidemia or familial hypertriglyceridemia. (11595020)
2001
16
Platelet function in patients with familial hypertriglyceridemia: evidence that platelet reactivity is modulated by apolipoprotein E content of very-low-density lipoprotein particles. (10910008)
2000
17
Mutations of the human hepatic lipase gene in patients with combined hypertriglyceridemia/hyperalphalipoproteinemia and in patients with familial combined hyperlipidemia. (10606208)
1999
18
Hyperinsulinemia and abdominal obesity affect the expression of hypertriglyceridemia in heterozygous familial lipoprotein lipase deficiency. (9392497)
1997
19
Hypertriglyceridemia and plasma insulin in combined familial hyperlipidemia]. (9547191)
1997
20
Cholesterol metabolism in familial hypertriglyceridemia: effects of obesity versus triglyceride level. (9422337)
1997
21
Postprandial hemorrheology and apolipoprotein B metabolism in patients with familial hypertriglyceridemia. (9361689)
1997
22
Effects of n-3 fatty acids and fenofibrate on lipid and hemorrheological parameters in familial dysbetalipoproteinemia and familial hypertriglyceridemia. (8843189)
1996
23
In vitro lipolysis of human VLDL: effect of different VLDL compositions in normolipidemia, familial combined hyperlipidemia and familial hypertriglyceridemia. (8678926)
1996
24
Treatment of severe familial hypertriglyceridemia during pregnancy with very-low-fat diet and n-3 fatty acids. (8798226)
1996
25
Primary chylomicronemia in patients with severe familial hypertriglyceridemia responds to long-term treatment with (n-3) fatty acids. (7782902)
1995
26
Abnormal bile acid absorption in familial hypertriglyceridemia. (7706952)
1995
27
No evidence for linkage between familial hypertriglyceridemia and apolipoprotein B, apolipoprotein C-III or lipoprotein lipase genes. (8076943)
1994
28
Does familial hypertriglyceridemia predispose to NIDDM? (8299439)
1993
29
Treatment of primary chylomicronemia due to familial hypertriglyceridemia by omega-3 fatty acids. (1406295)
1992
30
Apolipoprotein E polymorphism association with lipoprotein profile in endogenous hypertriglyceridemia and familial hypercholesterolemia. (1998645)
1991
31
Effect of dietary treatment on the lipid, lipoprotein and fatty acid compositions in type IV familial hypertriglyceridemia. (1776822)
1991
32
HDL metabolism in HDL deficiency associated with familial hypertriglyceridemia: effect of treatment with gemfibrozil. (1907081)
1991
33
Familial hypertriglyceridemia aggravated by diabetes and drugs. (3331728)
1987
34
Bile acid metabolism in hereditary forms of hypertriglyceridemia: evidence for an increased synthesis rate in monogenic familial hypertriglyceridemia. (3474660)
1987
35
DNA polymorphisms of apolipoprotein A-I/C-III and insulin genes in familial hypertriglyceridemia and coronary heart disease. (3115275)
1987
36
Plasma lipoproteins, apolipoproteins, and triglyceride metabolism in familial hypertriglyceridemia. (3729796)
1986
37
Apolipoprotein AI and AII metabolism in patients with primary high-density lipoprotein deficiency associated with familial hypertriglyceridemia. (3927110)
1985
38
Familial hypertriglyceridemia and the regulation of lipid synthesis by insulin and triiodothyronine in human cell cultures. (6385657)
1984
39
The response of plasma triglyceride, cholesterol, and lipoprotein lipase to treatment in non-insulin-dependent diabetic subjects without familial hypertriglyceridemia. (6354782)
1983
40
Plasma lipoproteins in familial combined hyperlipidemia and monogenic familial hypertriglyceridemia. (6403642)
1983
41
Prevalence of familial hypertriglyceridemia: the Princeton School District Family Study. (7111228)
1982
42
Integrated regulation of very low density lipoprotein triglyceride and apolipoprotein-B kinetics in man: normolipemic subjects, familial hypertriglyceridemia and familial combined hyperlipidemia. (7266376)
1981
43
Pancreatitis, familial hypertriglyceridemia, and pregnancy. (7355961)
1980
44
Interactions of obesity and glucose-stimulated insulin secretion in familial hypertriglyceridemia. (658614)
1978
45
Familial hypertriglyceridemia in children: dietary management. (904981)
1977
46
Insulin, obesity, and triglyceride interrelationships in sixteen children with familial hypertriglyceridemia. (318742)
1977
47
Plasma triglyceride and insulin levels in familial hypertriglyceridemia. (889202)
1977
48
Juvenile familial hypertriglyceridemia and growth retardation. Clinical and biochemical observations in three siblings. (192555)
1977
49
Serum lipids in alcoholic patients with and without cirrhosis of the liver, with particular reference to endogenous familial hypertriglyceridemia. (184708)
1976
50
Familial hypertriglyceridemia: studies in 130 children and 45 siblings of 36 index cases. (4784529)
1973

Genetic Variations for Familial Hypertriglyceridemia

Expression for genes affiliated with Familial Hypertriglyceridemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Familial Hypertriglyceridemia

Search GEO for disease gene expression data for Familial Hypertriglyceridemia.

Pathways for genes affiliated with Familial Hypertriglyceridemia

Sources:
30KEGG, 54Reactome, 12EMD Millipore, 50PharmGKB, 38NCBI BioSystems Database
See all sources

Pathways related to Familial Hypertriglyceridemia according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)
9.6APOA2, APOA1
29.4APOB, APOA1
39.4APOB, APOA1
4
Hide members
9.2APOA2, APOA5, APOA1
59.1APOB, APOA2, APOA1
68.9APOB, APOE, APOA1
7
Hide members
8.9APOA1, APOE, APOB
88.4APOA1, APOA5, APOC3, APOA2, LPL
9
Hide members
7.8APOA1, APOE, APOC3, APOA2, APOB, LPL
107.8APOA1, APOE, APOC3, APOA2, APOB, LPL
11
Hide members
7.8APOA1, APOE, APOC3, APOA2, APOB, LPL
12
Hide members
7.8APOA1, APOE, APOC3, APOA2, APOB, LPL
13
Hide members
7.5LPL, APOA1, APOE, APOA5, APOC3, APOA2
14
Hide members
7.5APOA1, APOE, APOA5, APOC3, APOA2, APOB

Compounds for genes affiliated with Familial Hypertriglyceridemia

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB, 2BitterDB, 60Tocris Bioscience
See all sources

Compounds related to Familial Hypertriglyceridemia according to GeneCards/GeneDecks:

(show top 50)    (show all 85)
idCompoundScoreTop Affiliating Genes
1alpha tocopherol4510.3LPL
2maxepa459.7APOB, APOA1
3polyethylene glycol 6000459.7APOB, APOA1
4lynestrenol459.6APOA1, APOB
5xbai459.6LPL, APOC3, APOE
6cholestyramine459.6APOB, APOC3, APOE
7sele459.5APOE, APOC3, LPL
8colestipol459.5APOA1, APOB
9sodium oleate459.4APOA1, LPL
10trioleoylglycerol459.4LPL, APOA1
11rosuvastatin45 50 29 1112.4APOA1, APOC3, APOB
12ritonavir45 50 1111.3APOE, APOC3, LPL
13ciprofibrate45 2910.3LPL, APOB, APOA1
14campesterol45 2410.3APOB, APOE, APOA1
15tocopherol459.3APOA1, APOB, LPL
167-ketocholesterol45 2410.3APOA1, APOE, APOB
17mspi459.2APOB, APOA2, APOC3, APOA1
18niacin45 1110.2LPL, APOB, APOA1
19dimyristoylphosphatidylcholine459.1APOA2, APOA5, APOE, APOA1
20fenofibric acid45 2910.1APOA1, APOC3, APOB, LPL
21chloramphenicol45 2 1111.0USF1, LPL, APOB, APOC3
22homocysteine45 249.9APOB, APOC3, APOE, APOA1
23retinyl palmitate45 249.9APOA1, APOE, APOB, LPL
24dextran sulfate458.9LPL, APOB, APOA1
25probucol45 119.9APOA1, APOE, APOB, LPL
26fluvastatin45 50 29 1111.8APOA1, APOE, APOB, LPL
27taurocholate458.8APOA1, APOC3, APOB, LPL, SLC10A2
28simvastatin45 50 60 29 11 2413.8LPL, APOB, APOE, APOA1
29thyroxine45 249.7APOA1, APOE, APOB, LPL
30pravastatin45 50 29 11 2412.7APOA1, APOE, APOC3, APOB, SLC10A2
31guanine45 11 2410.7USF1, LPL, APOE, APOA1
32fatty acid458.7APOA5, APOC3, APOA2, APOB, LPL, USF1
33sterol458.7APOA1, APOE, APOB, USF1, SLC10A2
34lovastatin45 50 60 29 1112.6APOA1, APOE, APOC3, APOB, LPL
35phosphatidylcholine458.5APOA1, APOE, APOA2, APOB, LPL
36vitamin a45 11 2410.5LPL, APOB, APOC3, APOE, APOA1
37heparin45 29 11 2411.5APOE, APOA5, APOC3, APOA2, APOB, LPL
38fenofibrate45 50 1110.5APOA1, APOA5, APOC3, APOA2, APOB, LPL
39atorvastatin45 50 29 11 2412.3APOA1, APOE, APOC3, APOB, LPL, SLC10A2
40intralipid458.3LPL, APOB, APOA2, APOC3, APOE, APOA1
41gemfibrozil45 29 1110.3APOA1, APOE, APOC3, APOA2, APOB, LPL
42cholesterol ester458.3APOA1, APOE, APOC3, APOA2, APOB, LPL
43bezafibrate45 29 1110.3APOA1, APOE, APOC3, APOA2, APOB, LPL
44phospholipid458.2APOA1, APOE, APOC3, APOA2, APOB, LPL
45glucose458.0APOA1, APOA5, APOC3, APOA2, APOB, LPL
46triacylglycerol457.9APOA1, APOE, APOA5, APOC3, APOA2, APOB
47testosterone45 60 11 2410.8APOA1, APOE, APOC3, APOB, LPL
48estrogen457.8APOA1, APOE, APOC3, APOA2, APOB, LPL
49cholesterol45 29 11 2410.3APOA1, APOE, APOA5, APOC3, APOA2, APOB
50lipid457.3APOA1, APOE, APOA5, APOC3, APOA2, APOB

GO Terms for genes affiliated with Familial Hypertriglyceridemia

Sources:
16Gene Ontology
See all sources

Cellular components related to Familial Hypertriglyceridemia according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1intermediate-density lipoprotein particleGO:0343639.4APOB, APOC3, APOE
2spherical high-density lipoprotein particleGO:0343669.3APOA1, APOC3, APOA2
3endoplasmic reticulum lumenGO:0057889.1APOB, APOA2, APOA1
4low-density lipoprotein particleGO:0343629.1APOE, APOA5, APOB
5high-density lipoprotein particleGO:0343648.9APOA1, APOE, APOA5, APOA2
6endocytic vesicle lumenGO:0716828.6APOB, APOE, APOA1
7early endosomeGO:0057698.4APOA1, APOE, APOC3, APOA2, APOB
8chylomicronGO:0426278.3APOE, APOA5, APOC3, APOA2, APOB, LPL
9very-low-density lipoprotein particleGO:0343617.7LPL, APOA1, APOE, APOA5, APOC3, APOA2
10extracellular spaceGO:0056157.3APOA1, APOE, APOA5, APOC3, APOB, LPL
11extracellular regionGO:0055767.0APOA1, APOE, APOA5, APOC3, APOA2, APOB

Biological processes related to Familial Hypertriglyceridemia according to GeneCards/GeneDecks:

(show all 45)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cholesterol importGO:06062110.2APOC3, APOA2
2triglyceride-rich lipoprotein particle remodelingGO:03437010.2APOA5, APOA2
3positive regulation of lipid catabolic processGO:05099610.2APOA5, APOA2
4triglyceride mobilizationGO:00664210.0APOC3, APOB
5very-low-density lipoprotein particle assemblyGO:0343799.9APOB, APOC3
6negative regulation of lipid catabolic processGO:0509959.9APOA2, APOC3
7negative regulation of lipase activityGO:0601929.9APOA1, APOA2
8regulation of intestinal cholesterol absorptionGO:0303009.9APOA1, APOA2
9lipoprotein catabolic processGO:0421599.9APOE, APOB
10protein oxidationGO:0181589.9APOA1, APOA2
11lipoprotein transportGO:0429539.9APOB, APOC3
12positive regulation of cholesterol storageGO:0108869.9LPL, APOB
13negative regulation of cytokine secretion involved in immune responseGO:0027409.8APOA1, APOA2
14peptidyl-methionine modificationGO:0182069.8APOA1, APOA2
15very-low-density lipoprotein particle remodelingGO:0343729.7LPL, APOE
16negative regulation of very-low-density lipoprotein particle remodelingGO:0109039.6APOA2, APOC3, APOA1
17peripheral nervous system axon regenerationGO:0140129.6APOA1, APOE
18positive regulation of macrophage derived foam cell differentiationGO:0107449.6APOB, LPL
19low-density lipoprotein particle remodelingGO:0343749.6APOB, APOA2, APOE
20cholesterol transportGO:0303019.6APOB, APOA1
21organ regenerationGO:0311009.6APOA2, APOA5, APOA1
22phosphatidylcholine biosynthetic processGO:0066569.6APOA2, APOA1
23positive regulation of lipoprotein lipase activityGO:0510069.5APOA5, LMF1
24high-density lipoprotein particle assemblyGO:0343809.4APOA1, APOE, APOA2
25high-density lipoprotein particle clearanceGO:0343849.4APOA1, APOE, APOA2
26regulation of Cdc42 protein signal transductionGO:0324899.4APOA1, APOE, APOC3
27positive regulation of cholesterol esterificationGO:0108739.4APOA1, APOE, APOA2
28triglyceride catabolic processGO:0194339.4APOA5, APOC3, APOB, LPL
29lipoprotein biosynthetic processGO:0421589.3APOA1, APOE, APOB
30artery morphogenesisGO:0488449.2APOB, APOE
31chylomicron remnant clearanceGO:0343829.2APOE, APOC3, LMF1
32triglyceride homeostasisGO:0703289.1APOA1, APOA5, APOC3, LPL
33phospholipid effluxGO:0337009.1APOA1, APOE, APOC3, APOA2
34high-density lipoprotein particle remodelingGO:0343759.1APOA2, APOC3, APOE, APOA1
35reverse cholesterol transportGO:0436919.1APOA1, APOE, APOC3, APOA2
36cellular lipid metabolic processGO:0442559.1APOA2, APOA5, APOA1
37response to drugGO:0424939.0APOA1, APOC3, APOA2, LPL
38triglyceride metabolic processGO:0066419.0APOE, APOA5, APOC3, APOA2, LPL
39cholesterol effluxGO:0333448.7APOA1, APOE, APOC3, APOA2, APOB
40cholesterol metabolic processGO:0082038.7APOA1, APOE, APOC3, APOA2, APOB
41cholesterol homeostasisGO:0426328.4APOA1, APOE, APOA5, APOC3, APOA2, APOB
42retinoid metabolic processGO:0015238.3APOA1, APOE, APOC3, APOA2, APOB, LPL
43phototransduction, visible lightGO:0076038.3APOA1, APOE, APOC3, APOA2, APOB, LPL
44lipoprotein metabolic processGO:0421577.9LPL, APOA1, APOE, APOA5, APOC3, APOA2
45small molecule metabolic processGO:0442817.6APOA1, APOE, APOA5, APOC3, APOA2, APOB

Molecular functions related to Familial Hypertriglyceridemia according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylcholine bindingGO:0312109.9APOA2, APOA5
2apolipoprotein receptor bindingGO:0341909.8APOA2, APOA1
3high-density lipoprotein particle bindingGO:0080359.7APOA2, APOA1
4phospholipase activityGO:0046209.6LPL, LIPI
5high-density lipoprotein particle receptor bindingGO:0706539.5APOA1, APOC3, APOA2
6lipase inhibitor activityGO:0551029.5APOA2, APOC3, APOA1
7cholesterol bindingGO:0154859.5APOA2, APOC3, APOA1
8low-density lipoprotein particle receptor bindingGO:0507509.4APOE, APOA5, APOB
9lipid transporter activityGO:0053199.4APOA2, APOE
10beta-amyloid bindingGO:0015409.3APOE, APOA1
11phosphatidylcholine-sterol O-acyltransferase activator activityGO:0602289.3APOA2, APOE, APOA1
12lipid bindingGO:0082899.2APOE, APOA5, APOA2
13cholesterol transporter activityGO:0171278.9APOB, APOA2, APOE, APOA1
14enzyme bindingGO:0198998.9APOA1, APOA5, APOB, USF1
15protein heterodimerization activityGO:0469828.9USF1, APOB, APOA2, APOE
16heparin bindingGO:0082018.5APOE, APOA5, APOB, LPL, LIPI
17phospholipid bindingGO:0055438.2APOA1, APOE, APOA5, APOC3, APOA2, APOB

Products for genes affiliated with Familial Hypertriglyceridemia

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Sources for Familial Hypertriglyceridemia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet