MCID: FML235
MIFTS: 33

Familial Combined Hyperlipoproteinemia malady

Genetic diseases, Rare diseases categories

Summaries for Familial Combined Hyperlipoproteinemia

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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 APOA1 (apolipoprotein A-I), and among its related pathways are PPAR signaling pathway and Fatty acid, triacylglycerol, and ketone body metabolism. The compounds sodium oleate and trioleoylglycerol have been mentioned in the context of this disorder. Affiliated tissues include liver, and related mouse phenotypes are cardiovascular system and liver/biliary system.

Aliases & Classifications for Familial Combined Hyperlipoproteinemia

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50Orphanet
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Classifications:

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


Aliases & Descriptions:

familial combined hyperlipoproteinemia 50


Related Diseases for Familial Combined Hyperlipoproteinemia

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18GeneCards, 19GeneDecks
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Diseases related to Familial Combined Hyperlipoproteinemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1familial combined hyperlipidemia30.3APOB, APOA1
2atherosclerosis30.2LPL, APOB, APOA1
3growth hormone deficiency10.2
4chylomicron retention disease10.1APOB
5amyloidosis10.0APOA1, LPL
6xanthomatosis10.0LPL, APOB
7hyperalphalipoproteinemia10.0APOB, APOA1
8arcus senilis10.0APOB, APOA1
9hyperinsulinism10.0LPL, APOB
10lipodystrophy10.0APOB, LPL
11glucose intolerance10.0LPL, APOB
12hypobetalipoproteinemia10.0APOB, APOA1
13peripheral vascular disease10.0APOA1, APOB
14coronary stenosis10.0APOB, APOA1
15pancreatitis, chronic10.0APOB, LPL
16hepatoblastoma10.0APOB, APOA1
17stroke, ischemic10.0APOB, APOA1
18congenital heart disease10.0APOB, APOA1
19acute myocardial infarction10.0APOB, APOA1
20diabetic nephropathy10.0APOB, APOA1
21hyperglycemia10.0LPL, APOB
22proteinuria10.0APOB, APOA1
23type 1 diabetes mellitus10.0APOA1, APOB
24galactosemia10.0APOB, APOA1
25primary hyperoxaluria10.0APOB, APOA1
26cerebrovascular disease10.0APOB, LPL
27norum disease10.0LPL, APOB, APOA1
28familial hypertriglyceridemia10.0APOA1, APOB, LPL
29hyperlipidemia type 310.0APOA1, APOB, LPL
30abetalipoproteinemia10.0APOA1, APOB, LPL
31hypoalphalipoproteinemia10.0LPL, APOB, APOA1
32tangier disease10.0LPL, APOB, APOA1
33familial hypercholesterolemia10.0APOA1, APOB, LPL
34arteriosclerosis10.0LPL, APOB, APOA1
35hypertriglyceridemia10.0LPL, APOB, APOA1
36nephrotic syndrome9.9LPL, APOB, APOA1
37familial hyperlipidemia9.9APOA1, APOB, LPL
38fatty liver disease9.9LPL, APOB, APOA1
39hypercholesterolemia9.9APOA1, APOB, LPL
40essential hypertension9.9LPL, APOB, APOA1
41hypertension9.9LPL, APOB, APOA1
42metabolic syndrome x9.9APOA1, APOB, LPL
43vascular disease9.9APOA1, APOB, LPL
44coronary artery disease9.9LPL, APOB, APOA1
45chronic kidney failure9.9APOA1, APOB, LPL
46type 2 diabetes mellitus9.9LPL, APOB, APOA1
47insulin resistance9.9LPL, APOB, APOA1
48diabetes mellitus9.9APOA1, APOB, LPL
49obesity9.9LPL, APOB, APOA1
50myocardial infarction9.9APOB, APOA1

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



Diseases related to familial combined hyperlipoproteinemia

Symptoms for Familial Combined Hyperlipoproteinemia

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Drugs & Therapeutics for Familial Combined Hyperlipoproteinemia

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Familial Combined Hyperlipoproteinemia

Drug clinical trials:

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Genetic Tests for Familial Combined Hyperlipoproteinemia

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Anatomical Context for Familial Combined Hyperlipoproteinemia

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34MalaCards
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MalaCards organs/tissues related to Familial Combined Hyperlipoproteinemia:

34
Liver

Animal Models for Familial Combined Hyperlipoproteinemia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Familial Combined Hyperlipoproteinemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5LPL, APOB, APOA1
2MP:00053708.2LPL, APOB, APOA1

Publications for Familial Combined Hyperlipoproteinemia

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53PubMed
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Articles related to Familial Combined Hyperlipoproteinemia:

(show all 11)
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
Effects of guar gum on plasma lipoproteins and apolipoproteins C-II and C-III in patients affected by familial combined hyperlipoproteinemia. (6095636)
1984
10
Familial combined hyperlipoproteinemia. Evidence for a role of growth hormone deficiency in effecting its manifestation. (6987267)
1980
11
Familial combined hyperlipoproteinemia: studies in 91 adults and 95 children from 33 kindreds. (4356145)
1973

Variations for Familial Combined Hyperlipoproteinemia

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Expression for genes affiliated with Familial Combined Hyperlipoproteinemia

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2BioGPS, 16Gene 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

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51PathCards, 31KEGG, 39NCBI BioSystems Database, 56Reactome, 13EMD Millipore, 52PharmGKB
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Pathways related to Familial Combined Hyperlipoproteinemia according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
fatty acid beta-oxidation VI (peroxisome)39
9.3LPL, APOA1
2
Show member pathways
9.3APOA1, LPL
3
Show member pathways
9.0APOB, APOA1
4
Show member pathways
thioredoxin pathway39
9.0APOB, APOA1
5
Show member pathways
9.0APOA1, APOB
69.0APOB, APOA1
79.0APOB, APOA1
8
Show member pathways
8.5LPL, APOB, APOA1
9
Show member pathways
8.5LPL, APOB, APOA1
10
Show member pathways
8.5LPL, APOB, APOA1
11
Show member pathways
8.5APOA1, APOB, LPL
12
Show member pathways
8.5LPL, APOB, APOA1
138.5LPL, APOB, APOA1

Compounds for genes affiliated with Familial Combined Hyperlipoproteinemia

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46Novoseek, 12DrugBank, 25HMDB, 30IUPHAR, 62Tocris Bioscience, 52PharmGKB, 3BitterDB
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Compounds related to Familial Combined Hyperlipoproteinemia according to GeneCards/GeneDecks:

(show top 50)    (show all 86)
idCompoundScoreTop Affiliating Genes
1sodium oleate469.7LPL, APOA1
2trioleoylglycerol469.7LPL, APOA1
3stavudine46 1210.6APOA1, LPL
4doxazosin46 1210.4APOA1, LPL
5pluronic f127469.4LPL, APOB
6polyethylene glycol 6000469.4APOB, APOA1
7maxepa469.4APOA1, APOB
8lynestrenol469.4APOA1, APOB
9colestipol469.4APOB, APOA1
10campesterol46 2510.3APOA1, APOB
11desogestrel46 1210.3APOA1, APOB
12fructosamine46 2510.3APOA1, APOB
13gestodene46 1210.3APOA1, APOB
14acipimox46 3010.2APOB, APOA1
157-ketocholesterol46 2510.2APOA1, APOB
16xbai469.2LPL, APOB
17tibolone469.0APOB, APOA1
18levonorgestrel46 62 30 1212.0APOA1, APOB
19fenofibric acid46 3010.0LPL, APOB, APOA1
20ciprofibrate46 3010.0LPL, APOB, APOA1
21retinyl palmitate46 2510.0APOA1, APOB, LPL
22intralipid469.0LPL, APOA1, APOB
23probucol46 1210.0APOB, APOA1, LPL
24tocopherol468.9APOB, APOA1, LPL
25gemfibrozil30 46 1210.9LPL, APOB, APOA1
26cholesterol ester468.9LPL, APOB, APOA1
27taurocholate468.9APOA1, LPL, APOB
28niacin46 129.9APOB, APOA1, LPL
29bezafibrate46 30 1210.9LPL, APOB, APOA1
30fenofibrate46 52 1210.9APOA1, APOB, LPL
31dextran sulfate468.9LPL, APOA1, APOB
32fluvastatin46 52 30 1211.9APOA1, LPL, APOB
33metformin46 52 1210.9APOA1, APOB, LPL
34triacylglycerol468.9LPL, APOB, APOA1
35pioglitazone30 46 52 1211.9LPL, APOB, APOA1
36carnitine468.9APOB, LPL, APOA1
37pravastatin46 52 30 25 1212.9APOB, APOA1, LPL
38lovastatin46 52 62 30 1212.9LPL, APOB, APOA1
39alpha tocopherol468.9LPL, APOB, APOA1
40palmitate468.9APOB, APOA1, LPL
41atorvastatin46 52 30 25 1212.9LPL, APOB, APOA1
42simvastatin46 52 62 30 25 1213.9APOB, LPL, APOA1
43thyroxine46 259.8APOA1, APOB, LPL
44phosphatidylcholine468.8LPL, APOB, APOA1
45orlistat46 62 1210.8APOB, LPL
46vitamin a46 25 1210.8LPL, APOB, APOA1
47tamoxifen46 52 30 1211.8APOA1, APOB, LPL
48phospholipid468.7LPL, APOB, APOA1
49genistein46 30 62 3 25 1213.7LPL, APOB, APOA1
50lactate468.4LPL, APOA1, APOB

GO Terms for genes affiliated with Familial Combined Hyperlipoproteinemia

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17Gene Ontology
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Cellular components related to Familial Combined Hyperlipoproteinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chylomicronGO:0426279.2LPL, APOB
2endocytic vesicle lumenGO:0716829.1APOB, APOA1
3endoplasmic reticulum lumenGO:0057889.0APOB, APOA1
4early endosomeGO:0057698.9APOB, APOA1
5very-low-density lipoprotein particleGO:0343618.7LPL, APOB, APOA1
6extracellular spaceGO:0056158.5APOA1, APOB, LPL
7extracellular regionGO:0055768.2LPL, APOB, APOA1

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1triglyceride homeostasisGO:0703289.4LPL, APOA1
2positive regulation of cholesterol storageGO:0108869.4LPL, APOB
3response to drugGO:0424939.3LPL, APOA1
4positive regulation of macrophage derived foam cell differentiationGO:0107449.3APOB, LPL
5triglyceride catabolic processGO:0194339.3LPL, APOB
6lipoprotein biosynthetic processGO:0421589.3APOB, APOA1
7cholesterol transportGO:0303019.2APOB, APOA1
8cholesterol effluxGO:0333449.1APOB, APOA1
9cholesterol homeostasisGO:0426329.0APOA1, APOB
10cholesterol metabolic processGO:0082038.9APOB, APOA1
11lipoprotein metabolic processGO:0421578.8LPL, APOB, APOA1
12retinoid metabolic processGO:0015238.8LPL, APOB, APOA1
13phototransduction, visible lightGO:0076038.8APOA1, APOB, LPL
14small molecule metabolic processGO:0442818.2LPL, APOB, APOA1

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

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:0082019.1LPL, APOB
2cholesterol transporter activityGO:0171278.9APOB, APOA1
3phospholipid bindingGO:0055438.7APOB, APOA1

Products for genes affiliated with Familial Combined Hyperlipoproteinemia

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Sources for Familial Combined Hyperlipoproteinemia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet