MCID: FML235
MIFTS: 26

Familial Combined Hyperlipoproteinemia malady

Genetic diseases category

Summaries for Familial Combined Hyperlipoproteinemia

About this section
Sources:
32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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. Related mouse phenotype liver/biliary system.

Aliases & Classifications for Familial Combined Hyperlipoproteinemia

About this section
Sources:
48Orphanet
See all sources

Classifications:

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


Aliases & Descriptions:

familial combined hyperlipoproteinemia 48


Related Diseases for Familial Combined Hyperlipoproteinemia

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 58)
idRelated DiseaseScoreTop Affiliating Genes
1familial combined hyperlipidemia30.2APOA1, APOB
2atherosclerosis30.2LPL, APOA1, APOB
3chylomicron retention disease10.0APOB
4hypothyroidism10.0APOB
5lipoprotein lipase deficiency10.0LPL
6uremia10.0LPL
7ischemic heart disease10.0LPL
8hyperuricemia10.0APOB
9dementia10.0LPL
10complete lcat deficiency10.0APOA1
11thromboembolism10.0APOA1
12hepatitis c10.0LPL
13polycystic ovary syndrome10.0APOA1
14xanthomatosis10.0LPL, APOB
15glucose intolerance10.0APOB, LPL
16lipodystrophy10.0LPL, APOB
17hyperglycemia10.0APOB, LPL
18hyperinsulinism10.0LPL, APOB
19hyperalphalipoproteinemia10.0APOA1, APOB
20pancreatitis, chronic10.0LPL, APOB
21arcus senilis10.0APOA1, APOB
22peripheral vascular disease10.0APOB, APOA1
23acute myocardial infarction10.0APOB, APOA1
24hypobetalipoproteinemia10.0APOB, APOA1
25coronary stenosis10.0APOA1, APOB
26myocardial infarction10.0APOB, APOA1
27congenital heart defect10.0APOB, APOA1
28diabetic nephropathy10.0APOB, APOA1
29stroke, ischemic10.0APOA1, APOB
30type 1 diabetes10.0APOA1, APOB
31rheumatoid arthritis10.0APOA1, LPL
32norum disease10.0APOB, LPL, APOA1
33familial hypertriglyceridemia10.0APOB, APOA1, LPL
34hyperlipidemia type 310.0LPL, APOA1, APOB
35hypoalphalipoproteinemia10.0APOB, LPL, APOA1
36familial hypercholesterolemia10.0APOA1, APOB, LPL
37abetalipoproteinemia10.0APOA1, APOB, LPL
38tangier disease10.0APOB, LPL, APOA1
39familial hyperlipidemia10.0LPL, APOB, APOA1
40fatty liver disease10.0LPL, APOA1, APOB
41arteriosclerosis10.0LPL, APOB, APOA1
42cerebrovascular disease10.0LPL, APOB, APOA1
43hypertriglyceridemia10.0APOA1, LPL, APOB
44metabolic syndrome x10.0APOA1, APOB, LPL
45vascular disease10.0APOA1, APOB, LPL
46coronary artery disease10.0LPL, APOA1, APOB
47chronic kidney failure10.0LPL, APOA1, APOB
48hypercholesterolemia10.0APOA1, APOB, LPL
49type 2 diabetes mellitus10.0LPL, APOA1, APOB
50nephrotic syndrome10.0APOB, APOA1, 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

About this section

Drugs & Therapeutics for Familial Combined Hyperlipoproteinemia

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Familial Combined Hyperlipoproteinemia

Drug clinical trials:

Search ClinicalTrials for Familial Combined Hyperlipoproteinemia

Search NIH Clinical Center for Familial Combined Hyperlipoproteinemia

Search CenterWatch for Familial Combined Hyperlipoproteinemia

Genetic Tests for Familial Combined Hyperlipoproteinemia

About this section

Anatomical Context for Familial Combined Hyperlipoproteinemia

About this section

Animal Models for Familial Combined Hyperlipoproteinemia or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Familial Combined Hyperlipoproteinemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5LPL, APOB, APOA1

Publications for Familial Combined Hyperlipoproteinemia

About this section

Genetic Variations for Familial Combined Hyperlipoproteinemia

About this section

Expression for genes affiliated with Familial Combined Hyperlipoproteinemia

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
29KEGG, 53Reactome, 37NCBI BioSystems Database, 12EMD Millipore, 49PharmGKB
See all sources

Compounds for genes affiliated with Familial Combined Hyperlipoproteinemia

About this section
Sources:
44Novoseek, 24HMDB, 11DrugBank, 59Tocris Bioscience, 28IUPHAR, 49PharmGKB, 2BitterDB
See all sources

Compounds related to Familial Combined Hyperlipoproteinemia according to GeneCards/GeneDecks:

(show top 50)    (show all 78)
idCompoundScoreTop Affiliating Genes
1alpha tocopherol4410.2LPL
2xbai4410.0LPL
3pluronic f127449.7LPL, APOB
4polyethylene glycol 6000449.5APOA1, APOB
5maxepa449.5APOB, APOA1
6lynestrenol449.5APOA1, APOB
7colestipol449.5APOA1, APOB
8campesterol44 2410.5APOB, APOA1
9desogestrel44 1110.4APOA1, APOB
10fructosamine44 2410.4APOB, APOA1
11sodium oleate449.4LPL, APOA1
12gestodene44 1110.4APOA1, APOB
13orlistat44 59 1111.4APOB, LPL
14trioleoylglycerol449.4LPL, APOA1
15acipimox44 2810.4APOB, APOA1
167-ketocholesterol44 2410.4APOA1, APOB
17stavudine44 1110.3LPL, APOA1
18tibolone449.2APOB, APOA1
19doxazosin44 1110.2LPL, APOA1
20levonorgestrel44 59 28 1112.1APOB, APOA1
21ezetimibe44 1110.1APOA1, APOB
22starch449.0LPL, APOB
23fenofibric acid44 2810.0APOA1, LPL, APOB
24ciprofibrate44 2810.0APOA1, APOB, LPL
25retinyl palmitate44 2410.0APOA1, APOB, LPL
26intralipid449.0APOB, APOA1, LPL
27probucol44 1110.0LPL, APOB, APOA1
28tocopherol448.9APOB, APOA1, LPL
29gemfibrozil44 28 1110.9APOA1, LPL, APOB
30cholesterol ester448.9LPL, APOB, APOA1
31taurocholate448.9APOB, APOA1, LPL
32niacin44 119.9LPL, APOB, APOA1
33bezafibrate44 28 1110.9LPL, APOB, APOA1
34fenofibrate44 49 1110.9APOB, APOA1, LPL
35dextran sulfate448.9LPL, APOB, APOA1
36fluvastatin44 49 28 1111.9APOA1, APOB, LPL
37metformin44 49 1110.9LPL, APOB, APOA1
38triacylglycerol448.9LPL, APOB, APOA1
39pioglitazone44 49 28 1111.9APOA1, LPL, APOB
40carnitine448.9LPL, APOB, APOA1
41lovastatin44 49 59 28 1112.9LPL, APOB, APOA1
42atorvastatin44 49 28 11 2412.9APOB, LPL, APOA1
43simvastatin44 49 59 28 11 2413.9APOB, LPL, APOA1
44thyroxine44 249.9APOA1, APOB, LPL
45phosphatidylcholine448.8APOA1, APOB, LPL
46vitamin a44 11 2410.8APOA1, APOB, LPL
47tamoxifen44 49 28 1111.8LPL, APOA1, APOB
48phospholipid448.8LPL, APOB, APOA1
49genistein44 28 59 2 11 2413.7LPL, APOB, APOA1
50lactate448.4LPL, APOA1, APOB

GO Terms for genes affiliated with Familial Combined Hyperlipoproteinemia

About this section
Sources:
16Gene Ontology
See all sources

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

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

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:0107449.5LPL, APOB
3triglyceride catabolic processGO:0194339.4APOB, LPL
4lipoprotein biosynthetic processGO:0421589.4APOB, APOA1
5cholesterol transportGO:0303019.3APOA1, APOB
6cholesterol effluxGO:0333449.1APOB, APOA1
7triglyceride homeostasisGO:0703289.1LPL, APOA1
8cholesterol homeostasisGO:0426329.0APOB, APOA1
9cholesterol metabolic processGO:0082038.8APOB, APOA1
10lipoprotein metabolic processGO:0421578.8LPL, APOB, APOA1
11retinoid metabolic processGO:0015238.8LPL, APOB, APOA1
12phototransduction, visible lightGO:0076038.7LPL, APOB, APOA1
13small molecule metabolic processGO:0442818.5APOB, APOA1, LPL

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Combined Hyperlipoproteinemia

About this section
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