MCID: FML016
MIFTS: 51

Familial Hypertriglyceridemia malady

Genetic diseases category

Summaries for Familial Hypertriglyceridemia

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8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
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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 familial combined hyperlipidemia and familial 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 heart, liver and lung, and related mouse phenotypes are cardiovascular system and liver/biliary system.

Wikipedia:63 Familial hypertriglyceridemia is an autosomal dominant condition occurring in approximately 1% of the... more...

Description from OMIM:46 145750

Aliases & Classifications for Familial Hypertriglyceridemia

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8Disease Ontology, 22GTR, 10DISEASES, 44Novoseek, 60UMLS, 46OMIM
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Classifications:

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


Aliases & Descriptions:

familial hypertriglyceridemia 8 22 10
hypertriglyceridemias familial 44
hyperlipoproteinemia type iv 60
pure hyperglyceridemia 8


External Ids:

Disease Ontology8 DOID:0050527
OMIM46 145750

Related Diseases for Familial Hypertriglyceridemia

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17GeneCards, 18GeneDecks
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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 78)
idRelated DiseaseScoreTop Affiliating Genes
1familial combined hyperlipidemia30.6APOA1, APOE, APOB
2familial hyperlipidemia30.6APOA1, APOE, APOA5, APOC3, APOA2, APOB
3pancreatitis30.3LPL
4obesity30.3APOA1, APOE, APOA5, APOC3, APOA2, APOB
5hypertriglyceridemia30.2APOA5, LIPI
6familial hypercholesterolemia29.9APOA1, APOE, APOB, LPL
7coronary artery disease29.9APOA1, APOE, APOA5, APOC3, APOA2, APOB
8hyperlipoproteinemia type iv10.6
9acanthosis nigricans10.2
10polyneuropathy10.0APOA2
11hyperthyroidism10.0APOA2
12cholestasis10.0SLC10A2
13hypothyroidism10.0APOB
14lipoprotein lipase deficiency10.0LPL
15hepatitis c10.0LPL
16acute pancreatitis10.0
17familial lipoprotein lipase deficiency10.0
18alcoholic liver cirrhosis10.0
19liver cirrhosis10.0
20chylomicron retention disease10.0APOB
21thromboembolism10.0APOA1
22steatorrhea10.0SLC10A2
23lipoprotein glomerulopathy10.0APOE
24vascular dementia10.0APOE
25hyperhomocysteinemia10.0APOE
26cerebral atherosclerosis10.0APOA1
27uremia10.0LPL, APOC3
28polycystic ovary syndrome10.0APOA1
29complete lcat deficiency10.0APOA2, APOA1
30hyperlipoproteinemia type v10.0APOE, LPL
31abdominal aortic aneurysm10.0APOE
32fish-eye disease10.0APOA1, APOA2
33acute myocardial infarction10.0APOA1, APOB
34age related macular degeneration10.0APOE, APOB
35hyperglycemia10.0LPL, APOB
36coronary stenosis10.0APOB, APOA1
37amyloidosis, renal10.0APOA2, APOA1
38arcus senilis10.0APOA1, APOB
39lipodystrophy10.0LPL, APOB, APOC3
40glucose intolerance10.0SLC10A2, APOB
41peripheral vascular disease10.0APOA1, APOB
42lipase deficiency combined10.0LPL, LMF1
43dementia10.0LPL, APOE
44xanthomatosis10.0APOE, APOB, LPL
45alzheimer's disease10.0APOE, APOC3, APOB
46hepatoblastoma10.0APOB, APOA2, APOA1
47essential hypertension10.0LPL, APOB, APOA1
48arteriosclerosis10.0LPL, APOB, APOA1
49amyloid tumor10.0APOA2, APOE
50hypobetalipoproteinemia10.0APOA1, APOE, APOB

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



Diseases related to familial hypertriglyceridemia

Clinical Features for Familial Hypertriglyceridemia

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46OMIM
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Clinical features from OMIM:

145750

Drugs & Therapeutics for Familial Hypertriglyceridemia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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22GTR
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Genetic tests related to Familial Hypertriglyceridemia:

id Genetic test Affiliating Genes
1 Familial Hypertriglyceridemia22

Anatomical Context for Familial Hypertriglyceridemia

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32MalaCards
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MalaCards organs/tissues related to Familial Hypertriglyceridemia:

32
Heart, Liver, Lung

Animal Models for Familial Hypertriglyceridemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Familial Hypertriglyceridemia:

36
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

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50PubMed
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Articles related to Familial Hypertriglyceridemia:

(show top 50)    (show all 58)
idTitleAuthorsYear
1
The interaction of familial and secondary causes of hypertriglyceridemia: role in pancreatitis. (23009776)
2012
2
APOA5 Q97X mutation identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family. (23151256)
2012
3
Premature atherosclerosis in a Japanese diabetic patient with atypical familial partial lipodystrophy and hypertriglyceridemia. (22989829)
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
Linkage analysis of a family with familial hypertriglyceridemia]. (19806567)
2009
8
Plasma PAI-1 levels are independently related to fatty liver and hypertriglyceridemia in familial combined hyperlipidemia, involvement of apolipoprotein E. (18262228)
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
A family-based study of hyperinsulinemia and hypertriglyceridemia in heterozygous lipoprotein lipase deficiency. (11750290)
2002
16
Analysis of the ileal bile acid transporter gene, SLC10A2, in subjects with familial hypertriglyceridemia. (11742882)
2001
17
Lipoprotein(a) as a risk factor for maternal cardiovascular disease mortality in kindreds with familial combined hyperlipidemia or familial hypertriglyceridemia. (11595020)
2001
18
Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers. Potential interaction with the polymorphic marker D1S104 on chromosome 1q21- q23. (10787434)
2000
19
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
20
Mutations of the human hepatic lipase gene in patients with combined hypertriglyceridemia/hyperalphalipoproteinemia and in patients with familial combined hyperlipidemia. (10606208)
1999
21
Hyperinsulinemia and abdominal obesity affect the expression of hypertriglyceridemia in heterozygous familial lipoprotein lipase deficiency. (9392497)
1997
22
Hypertriglyceridemia and plasma insulin in combined familial hyperlipidemia]. (9547191)
1997
23
Postprandial hemorrheology and apolipoprotein B metabolism in patients with familial hypertriglyceridemia. (9361689)
1997
24
Effects of n-3 fatty acids and fenofibrate on lipid and hemorrheological parameters in familial dysbetalipoproteinemia and familial hypertriglyceridemia. (8843189)
1996
25
In vitro lipolysis of human VLDL: effect of different VLDL compositions in normolipidemia, familial combined hyperlipidemia and familial hypertriglyceridemia. (8678926)
1996
26
Treatment of severe familial hypertriglyceridemia during pregnancy with very-low-fat diet and n-3 fatty acids. (8798226)
1996
27
Primary chylomicronemia in patients with severe familial hypertriglyceridemia responds to long-term treatment with (n-3) fatty acids. (7782902)
1995
28
Abnormal bile acid absorption in familial hypertriglyceridemia. (7706952)
1995
29
No evidence for linkage between familial hypertriglyceridemia and apolipoprotein B, apolipoprotein C-III or lipoprotein lipase genes. (8076943)
1994
30
Does familial hypertriglyceridemia predispose to NIDDM? (8299439)
1993
31
Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin- dependent diabetes. (8325986)
1993
32
Treatment of primary chylomicronemia due to familial hypertriglyceridemia by omega-3 fatty acids. (1406295)
1992
33
Effect of dietary treatment on the lipid, lipoprotein and fatty acid compositions in type IV familial hypertriglyceridemia. (1776822)
1991
34
HDL metabolism in HDL deficiency associated with familial hypertriglyceridemia: effect of treatment with gemfibrozil. (1907081)
1991
35
Familial hypertriglyceridemia aggravated by diabetes and drugs. (3331728)
1987
36
Bile acid metabolism in hereditary forms of hypertriglyceridemia: evidence for an increased synthesis rate in monogenic familial hypertriglyceridemia. (3474660)
1987
37
DNA polymorphisms of apolipoprotein A-I/C-III and insulin genes in familial hypertriglyceridemia and coronary heart disease. (3115275)
1987
38
Plasma lipoproteins, apolipoproteins, and triglyceride metabolism in familial hypertriglyceridemia. (3729796)
1986
39
Apolipoprotein B-48 and B-100 very low density lipoproteins. Comparison in dysbetalipoproteinemia (type III) and familial hypertriglyceridemia (type IV). (3977778)
1985
40
Familial hypertriglyceridemia and the regulation of lipid synthesis by insulin and triiodothyronine in human cell cultures. (6385657)
1984
41
The response of plasma triglyceride, cholesterol, and lipoprotein lipase to treatment in non-insulin-dependent diabetic subjects without familial hypertriglyceridemia. (6354782)
1983
42
Plasma lipoproteins in familial combined hyperlipidemia and monogenic familial hypertriglyceridemia. (6403642)
1983
43
Prevalence of familial hypertriglyceridemia: the Princeton School District Family Study. (7111228)
1982
44
Integrated regulation of very low density lipoprotein triglyceride and apolipoprotein-B kinetics in man: normolipemic subjects, familial hypertriglyceridemia and familial combined hyperlipidemia. (7266376)
1981
45
Pancreatitis, familial hypertriglyceridemia, and pregnancy. (7355961)
1980
46
Familial hypertriglyceridemia in children: dietary management. (904981)
1977
47
Insulin, obesity, and triglyceride interrelationships in sixteen children with familial hypertriglyceridemia. (318742)
1977
48
Plasma triglyceride and insulin levels in familial hypertriglyceridemia. (889202)
1977
49
Juvenile familial hypertriglyceridemia and growth retardation. Clinical and biochemical observations in three siblings. (192555)
1977
50
Familial hypertriglyceridemia: studies in 130 children and 45 siblings of 36 index cases. (4784529)
1973

Genetic Variations for Familial Hypertriglyceridemia

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Expression for genes affiliated with Familial Hypertriglyceridemia

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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29KEGG, 53Reactome, 12EMD Millipore, 49PharmGKB, 37NCBI BioSystems Database
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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

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44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB, 2BitterDB, 59Tocris Bioscience
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Compounds related to Familial Hypertriglyceridemia according to GeneCards/GeneDecks:

(show top 50)    (show all 85)
idCompoundScoreTop Affiliating Genes
1alpha tocopherol4410.3LPL
2maxepa449.7APOB, APOA1
3polyethylene glycol 6000449.7APOB, APOA1
4lynestrenol449.6APOA1, APOB
5xbai449.6LPL, APOC3, APOE
6cholestyramine449.6APOB, APOC3, APOE
7sele449.5APOE, APOC3, LPL
8colestipol449.5APOA1, APOB
9sodium oleate449.4APOA1, LPL
10trioleoylglycerol449.4LPL, APOA1
11rosuvastatin44 49 28 1112.4APOA1, APOC3, APOB
12ritonavir44 49 1111.3APOE, APOC3, LPL
13ciprofibrate44 2810.3LPL, APOB, APOA1
14campesterol44 2410.3APOB, APOE, APOA1
15tocopherol449.3APOA1, APOB, LPL
167-ketocholesterol44 2410.3APOA1, APOE, APOB
17mspi449.2APOB, APOA2, APOC3, APOA1
18niacin44 1110.2LPL, APOB, APOA1
19dimyristoylphosphatidylcholine449.1APOA2, APOA5, APOE, APOA1
20fenofibric acid44 2810.1APOA1, APOC3, APOB, LPL
21chloramphenicol44 2 1111.0USF1, LPL, APOB, APOC3
22homocysteine44 249.9APOB, APOC3, APOE, APOA1
23retinyl palmitate44 249.9APOA1, APOE, APOB, LPL
24dextran sulfate448.9LPL, APOB, APOA1
25probucol44 119.9APOA1, APOE, APOB, LPL
26fluvastatin44 49 28 1111.8APOA1, APOE, APOB, LPL
27taurocholate448.8APOA1, APOC3, APOB, LPL, SLC10A2
28simvastatin44 49 59 28 11 2413.8LPL, APOB, APOE, APOA1
29thyroxine44 249.7APOA1, APOE, APOB, LPL
30pravastatin44 49 28 11 2412.7APOA1, APOE, APOC3, APOB, SLC10A2
31guanine44 11 2410.7USF1, LPL, APOE, APOA1
32fatty acid448.7APOA5, APOC3, APOA2, APOB, LPL, USF1
33sterol448.7APOA1, APOE, APOB, USF1, SLC10A2
34lovastatin44 49 59 28 1112.6APOA1, APOE, APOC3, APOB, LPL
35phosphatidylcholine448.5APOA1, APOE, APOA2, APOB, LPL
36vitamin a44 11 2410.5LPL, APOB, APOC3, APOE, APOA1
37heparin44 28 11 2411.5APOE, APOA5, APOC3, APOA2, APOB, LPL
38fenofibrate44 49 1110.5APOA1, APOA5, APOC3, APOA2, APOB, LPL
39atorvastatin44 49 28 11 2412.3APOA1, APOE, APOC3, APOB, LPL, SLC10A2
40intralipid448.3LPL, APOB, APOA2, APOC3, APOE, APOA1
41gemfibrozil44 28 1110.3APOA1, APOE, APOC3, APOA2, APOB, LPL
42cholesterol ester448.3APOA1, APOE, APOC3, APOA2, APOB, LPL
43bezafibrate44 28 1110.3APOA1, APOE, APOC3, APOA2, APOB, LPL
44phospholipid448.2APOA1, APOE, APOC3, APOA2, APOB, LPL
45glucose448.0APOA1, APOA5, APOC3, APOA2, APOB, LPL
46triacylglycerol447.9APOA1, APOE, APOA5, APOC3, APOA2, APOB
47testosterone44 59 11 2410.8APOA1, APOE, APOC3, APOB, LPL
48estrogen447.8APOA1, APOE, APOC3, APOA2, APOB, LPL
49cholesterol44 28 11 2410.3APOA1, APOE, APOA5, APOC3, APOA2, APOB
50lipid447.3APOA1, APOE, APOA5, APOC3, APOA2, APOB

GO Terms for genes affiliated with Familial Hypertriglyceridemia

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16Gene Ontology
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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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet