MCID: FML235
MIFTS: 26

Familial Combined Hyperlipoproteinemia malady

Genetic category

Summaries for Familial Combined Hyperlipoproteinemia

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33MalaCards
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MalaCards: Familial Combined Hyperlipoproteinemia is related to familial combined hyperlipidemia and atherosclerosis. An important gene associated with Familial Combined Hyperlipoproteinemia is LPL (lipoprotein lipase), and among its related pathways are Fat digestion and absorption and Binding and Uptake of Ligands by Scavenger Receptors. The compounds alpha tocopherol and xbai have been mentioned in the context of this disorder. Affiliated tissues include liver, and related mouse phenotype liver/biliary system.

Aliases & Classifications for Familial Combined Hyperlipoproteinemia

Sources:
49Orphanet
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Classifications:

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


Aliases & Descriptions:

familial combined hyperlipoproteinemia 49


Related Diseases for Familial Combined Hyperlipoproteinemia

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Familial Combined Hyperlipoproteinemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1familial combined hyperlipidemia30.2APOB, APOA1
2atherosclerosis30.2LPL, APOB, APOA1
3growth hormone deficiency10.2
4chylomicron retention disease10.0APOB
5hypothyroidism10.0APOB
6lipoprotein lipase deficiency10.0LPL
7uremia10.0LPL
8ischemic heart disease10.0LPL
9hyperuricemia10.0APOB
10dementia10.0LPL
11complete lcat deficiency10.0APOA1
12thromboembolism10.0APOA1
13hepatitis c10.0LPL
14polycystic ovary syndrome10.0APOA1
15xanthomatosis10.0APOB, LPL
16glucose intolerance10.0LPL, APOB
17lipodystrophy10.0LPL, APOB
18hyperglycemia10.0LPL, APOB
19hyperinsulinism10.0APOB, LPL
20hyperalphalipoproteinemia10.0APOB, APOA1
21pancreatitis, chronic10.0LPL, APOB
22arcus senilis10.0APOB, APOA1
23peripheral vascular disease10.0APOB, APOA1
24acute myocardial infarction10.0APOB, APOA1
25hypobetalipoproteinemia10.0APOA1, APOB
26coronary stenosis10.0APOB, APOA1
27myocardial infarction10.0APOB, APOA1
28congenital heart defect10.0APOB, APOA1
29diabetic nephropathy10.0APOA1, APOB
30stroke, ischemic10.0APOB, APOA1
31type 1 diabetes10.0APOB, APOA1
32rheumatoid arthritis10.0LPL, APOA1
33norum disease10.0LPL, APOB, APOA1
34familial hypertriglyceridemia10.0APOA1, APOB, LPL
35hyperlipidemia type 310.0APOA1, APOB, LPL
36hypoalphalipoproteinemia10.0APOA1, APOB, LPL
37familial hypercholesterolemia10.0APOA1, APOB, LPL
38abetalipoproteinemia10.0APOA1, APOB, LPL
39tangier disease10.0APOA1, APOB, LPL
40familial hyperlipidemia10.0LPL, APOB, APOA1
41fatty liver disease10.0APOA1, APOB, LPL
42arteriosclerosis10.0APOA1, APOB, LPL
43cerebrovascular disease10.0APOA1, APOB, LPL
44hypertriglyceridemia10.0APOA1, APOB, LPL
45metabolic syndrome x10.0APOA1, APOB, LPL
46vascular disease10.0LPL, APOB, APOA1
47coronary artery disease,10.0APOA1, APOB, LPL
48chronic kidney failure10.0APOA1, APOB, LPL
49hypercholesterolemia10.0LPL, APOB, APOA1
50type 2 diabetes mellitus10.0APOA1, APOB, LPL

Graphical network of the top 20 diseases related to Familial Combined Hyperlipoproteinemia:



Diseases related to familial combined hyperlipoproteinemia

Clinical Features for Familial Combined Hyperlipoproteinemia

Drugs & Therapeutics for Familial Combined Hyperlipoproteinemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Familial Combined Hyperlipoproteinemia

Genetic Tests for Familial Combined Hyperlipoproteinemia

Anatomical Context for Familial Combined Hyperlipoproteinemia

Sources:
33MalaCards
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MalaCards organs/tissues related to Familial Combined Hyperlipoproteinemia:

33
Liver

Animal Models for Familial Combined Hyperlipoproteinemia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Familial Combined Hyperlipoproteinemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5LPL, APOB, APOA1

Publications for Familial Combined Hyperlipoproteinemia

Sources:
51PubMed
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Articles related to Familial Combined Hyperlipoproteinemia:

(show all 12)
idTitleAuthorsYear
1
Genetic influence in liver steatosis prevalence and proatherothrombotic/inflammatory profile in familial combined hyperlipoproteinemia. (23465229)
2013
2
Influence of metabolic syndrome superposition on familial combined hyperlipoproteinemia cardiovascular complication rate. (23671433)
2013
3
Familial combined hyperlipoproteinemia: experts panel position on diagnostic criteria for clinical practice. Committee of experts of the Atherosclerosis and Dysmetabolic Disorders Study Group. (10765523)
1999
4
Lack of association of the apolipoprotein A-I-C-III-A-IV gene XmnI and SstI polymorphisms and of the lipoprotein lipase gene mutations in familial combined hyperlipoproteinemia in French Canadian subjects. (9026529)
1996
5
Etophylline clofibrate in the treatment of familial combined hyperlipoproteinemia]. (7762188)
1995
6
Familial combined hyperlipoproteinemia. (1737299)
1992
7
Familial combined hyperlipoproteinemia. (2049681)
1991
8
Familial combined hyperlipoproteinemia. (1893322)
1991
9
A kindred of familial combined hyperlipidemia (FCHL) with proband showing type V hyperlipoproteinemia. (3773323)
1986
10
Effects of guar gum on plasma lipoproteins and apolipoproteins C-II and C-III in patients affected by familial combined hyperlipoproteinemia. (6095636)
1984
11
Familial combined hyperlipoproteinemia. Evidence for a role of growth hormone deficiency in effecting its manifestation. (6987267)
1980
12
Familial combined hyperlipoproteinemia: studies in 91 adults and 95 children from 33 kindreds. (4356145)
1973

Genetic Variations for Familial Combined Hyperlipoproteinemia

Expression for genes affiliated with Familial Combined Hyperlipoproteinemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Combined Hyperlipoproteinemia

Search GEO for disease gene expression data for Familial Combined Hyperlipoproteinemia.

Pathways for genes affiliated with Familial Combined Hyperlipoproteinemia

Sources:
30KEGG, 54Reactome, 38NCBI BioSystems Database, 12EMD Millipore, 50PharmGKB
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Compounds for genes affiliated with Familial Combined Hyperlipoproteinemia

Sources:
45Novoseek, 24HMDB, 11DrugBank, 60Tocris Bioscience, 29IUPHAR, 50PharmGKB, 2BitterDB
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Compounds related to Familial Combined Hyperlipoproteinemia according to GeneCards/GeneDecks:

(show top 50)    (show all 78)
idCompoundScoreTop Affiliating Genes
1alpha tocopherol4510.2LPL
2xbai4510.0LPL
3pluronic f127459.7APOB, LPL
4polyethylene glycol 6000459.5APOA1, APOB
5maxepa459.5APOA1, APOB
6lynestrenol459.5APOB, APOA1
7colestipol459.5APOB, APOA1
8campesterol45 2410.5APOB, APOA1
9desogestrel45 1110.4APOB, APOA1
10fructosamine45 2410.4APOB, APOA1
11sodium oleate459.4LPL, APOA1
12gestodene45 1110.4APOB, APOA1
13orlistat45 60 1111.4LPL, APOB
14trioleoylglycerol459.4APOA1, LPL
15acipimox45 2910.4APOA1, APOB
167-ketocholesterol45 2410.4APOB, APOA1
17stavudine45 1110.3LPL, APOA1
18tibolone459.2APOB, APOA1
19doxazosin45 1110.2LPL, APOA1
20levonorgestrel45 60 29 1112.1APOB, APOA1
21ezetimibe45 1110.1APOB, APOA1
22starch459.0LPL, APOB
23fenofibric acid45 2910.0LPL, APOB, APOA1
24ciprofibrate45 2910.0LPL, APOB, APOA1
25retinyl palmitate45 2410.0APOA1, APOB, LPL
26intralipid459.0LPL, APOB, APOA1
27probucol45 1110.0LPL, APOB, APOA1
28tocopherol458.9APOA1, APOB, LPL
29gemfibrozil45 29 1110.9LPL, APOB, APOA1
30cholesterol ester458.9LPL, APOB, APOA1
31taurocholate458.9APOA1, APOB, LPL
32niacin45 119.9LPL, APOB, APOA1
33bezafibrate45 29 1110.9APOA1, APOB, LPL
34fenofibrate45 50 1110.9LPL, APOB, APOA1
35dextran sulfate458.9LPL, APOB, APOA1
36fluvastatin45 50 29 1111.9APOA1, APOB, LPL
37metformin45 50 1110.9LPL, APOB, APOA1
38triacylglycerol458.9LPL, APOB, APOA1
39pioglitazone45 50 29 1111.9LPL, APOB, APOA1
40carnitine458.9APOA1, APOB, LPL
41lovastatin45 50 60 29 1112.9LPL, APOB, APOA1
42atorvastatin45 50 29 11 2412.9LPL, APOB, APOA1
43simvastatin45 50 60 29 11 2413.9LPL, APOB, APOA1
44thyroxine45 249.9LPL, APOB, APOA1
45phosphatidylcholine458.8LPL, APOB, APOA1
46vitamin a45 11 2410.8APOA1, APOB, LPL
47tamoxifen45 50 29 1111.8APOA1, APOB, LPL
48phospholipid458.8LPL, APOB, APOA1
49genistein45 29 60 2 11 2413.7APOA1, APOB, LPL
50lactate458.4APOA1, APOB, LPL

GO Terms for genes affiliated with Familial Combined Hyperlipoproteinemia

Sources:
16Gene Ontology
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Cellular components related to Familial Combined Hyperlipoproteinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chylomicronGO:0426279.4APOB, LPL
2endocytic vesicle lumenGO:0716829.2APOA1, APOB
3early endosomeGO:0057699.0APOA1, APOB
4endoplasmic reticulum lumenGO:0057888.8APOA1, APOB
5very-low-density lipoprotein particleGO:0343618.7APOB, LPL, APOA1
6extracellular spaceGO:0056158.5APOA1, APOB, LPL
7extracellular regionGO:0055768.5APOA1, APOB, LPL

Biological processes related to Familial Combined Hyperlipoproteinemia according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cholesterol storageGO:0108869.5LPL, APOB
2positive regulation of macrophage derived foam cell differentiationGO:0107449.5APOB, LPL
3triglyceride catabolic processGO:0194339.4LPL, APOB
4lipoprotein biosynthetic processGO:0421589.4APOB, APOA1
5cholesterol transportGO:0303019.3APOB, APOA1
6cholesterol effluxGO:0333449.1APOB, APOA1
7triglyceride homeostasisGO:0703289.1LPL, APOA1
8cholesterol homeostasisGO:0426329.0APOA1, APOB
9cholesterol metabolic processGO:0082038.8APOB, APOA1
10lipoprotein metabolic processGO:0421578.8LPL, APOB, APOA1
11retinoid metabolic processGO:0015238.8LPL, APOB, APOA1
12phototransduction, visible lightGO:0076038.7APOA1, APOB, LPL
13small molecule metabolic processGO:0442818.5LPL, APOB, APOA1

Molecular functions related to Familial Combined Hyperlipoproteinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:0082019.3LPL, APOB
2cholesterol transporter activityGO:0171278.8APOB, APOA1

Products for genes affiliated with Familial Combined Hyperlipoproteinemia

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  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Combined Hyperlipoproteinemia

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