MCID: HYP011
MIFTS: 49

Hyperlipoproteinemia Type Iii malady

Genetic diseases, Rare diseases, Endocrine diseases categories

Summaries for Hyperlipoproteinemia Type Iii

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MalaCards: Hyperlipoproteinemia Type Iii, also known as familial type 3 hyperlipoproteinemia, is related to hyperlipoproteinemia type v and hyperlipidemia type 3. An important gene associated with Hyperlipoproteinemia Type Iii is APOA5 (apolipoprotein A-V), and among its related pathways are SREBF and miR33 in cholesterol and lipid homeostasis and Folate Metabolism. The compounds psyllium and colestipol have been mentioned in the context of this disorder. Related mouse phenotypes are liver/biliary system and homeostasis/metabolism.

Aliases & Classifications for Hyperlipoproteinemia Type Iii

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9Disease Ontology, 63UMLS, 23GTR, 41NCIt, 59SNOMED-CT, 36MeSH
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Classifications:

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


Aliases & Descriptions:

hyperlipoproteinemia type iii 9 63
familial type 3 hyperlipoproteinemia 9 23
familial hypercholesterolaemia with hyperlipaemia 9
carbohydrate induced hyperlipemia 9
remnant hyperlipidemia 9


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Disease Ontology9 DOID:3145
NCIt41 C34710
SNOMED-CT59 398796005, 42569002
MeSH36 D006952

Related Diseases for Hyperlipoproteinemia Type Iii

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18GeneCards, 19GeneDecks
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Diseases in the Hyperlipoproteinemia Type V family:

Hyperlipoproteinemia Type Iv hyperlipoproteinemia type iii
Hyperlipoproteinemia Type 2 Hyperlipoproteinemia, Type Ib

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

(show top 50)    (show all 70)
idRelated DiseaseScoreTop Affiliating Genes
1hyperlipoproteinemia type v30.5LPL, APOE
2hyperlipidemia type 330.3CETP, LDLR, LIPC, APOB, APOA5, APOA1
3hyperlipoproteinemia type iv10.3
4cerebral atherosclerosis10.1APOA1
5lipoprotein glomerulopathy10.1APOE
6sitosterolemia10.1HMGCR
7hepatic lipase deficiency10.1LIPC
8chylomicron retention disease10.1APOB
9complete lcat deficiency10.1LPA, APOA1
10amyloidosis, secondary10.0APOA1, LPA
11arcus senilis10.0APOA1, APOB
12alagille syndrome10.0APOA1, LPA
13familial hypertriglyceridemia10.0LPL, APOB
14alzheimer disease type 210.0APOE, CETP
15stroke, hemorrhagic10.0APOE, HMGCR
16age related macular degeneration10.0APOB, APOE
17aortic disease10.0APOE, LDLR
18hypothyroidism10.0APOB, LPA, CETP
19venous thrombosis10.0CETP, APOB, HMGCR
20lipase deficiency combined10.0LPL, LIPC
21glucose intolerance10.0COG2, LPL, APOB
22vascular dementia10.0LPA, APOE
23familial hypercholesterolemia10.0APOB, LDLR, CETP, HMGCR
24hepatitis c10.0LDLR, LPL, HMGCR
25dementia10.0LPL, LPA, APOE, CETP
26amyloidosis10.0APOE, APOA1, LPA, LPL
27acute myocardial infarction10.0APOA1, APOB, HMGCR, LPA
28familial combined hyperlipidemia10.0APOE, APOA1, APOB, HMGCR
29hepatoblastoma10.0APOA1, APOB, LDLR, HMGCR
30hypobetalipoproteinemia9.9APOB, APOA1, LDLR, APOE
31norum disease9.9APOB, LPL, APOA1, APOE
32peripheral vascular disease9.9APOB, HMGCR, APOA1, LPA, CETP
33lipodystrophy9.9LDLR, APOB, LPL, HMGCR
34xanthomatosis9.9LDLR, LPL, APOE, APOB
35rheumatoid arthritis9.9APOA1, HMGCR, LPL, LPA
36uremia9.9LIPC, LDLR, LPL, LPA
37essential hypertension9.9LPL, LPA, APOA1, APOB, CETP
38primary hyperoxaluria9.9LIPC, HMGCR, COG2, LPA, CETP
39abetalipoproteinemia9.9LPL, CETP, APOB, APOA1, APOE
40metabolic syndrome x9.9APOB, APOA1, LDLR, LPL, CETP
41proteinuria9.9APOA1, HMGCR, LPA, CETP, APOB, COG2
42coronary stenosis9.9LPA, CETP, LIPC, APOB, APOA1
43type 1 diabetes mellitus9.9CETP, LIPC, LPA, APOB, APOA1
44stroke, ischemic9.9APOB, APOA1, HMGCR, COG2, APOE, LPA
45hyperalphalipoproteinemia9.9APOA1, APOB, CETP, LDLR, LIPC
46arteriosclerosis9.9APOB, HMGCR, LDLR, COG2, LPL, APOA1
47tangier disease9.9APOE, APOA1, APOB, LPL, LPA, CETP
48hypertension9.9APOA1, LPL, APOB, APOE, COG2, LPA
49galactosemia9.8APOB, APOA1, LPA, CETP, LIPC, LDLR
50alzheimer's disease9.8CETP, APOE, LPA, APOB, COG2, HMGCR

Graphical network of the top 20 diseases related to Hyperlipoproteinemia Type Iii:



Diseases related to hyperlipoproteinemia type iii

Symptoms for Hyperlipoproteinemia Type Iii

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Drugs & Therapeutics for Hyperlipoproteinemia Type Iii

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

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Drug clinical trials:

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Genetic Tests for Hyperlipoproteinemia Type Iii

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23GTR
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Genetic tests related to Hyperlipoproteinemia Type Iii:

id Genetic test Affiliating Genes
1 Familial Type 3 Hyperlipoproteinemia23

Anatomical Context for Hyperlipoproteinemia Type Iii

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Animal Models for Hyperlipoproteinemia Type Iii or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Hyperlipoproteinemia Type Iii:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053707.6LPL, LDLR, APOB, APOA1, APOE
2MP:00053767.0APOA1, APOA5, APOB, LIPC, LDLR, LPL

Publications for Hyperlipoproteinemia Type Iii

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53PubMed
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Articles related to Hyperlipoproteinemia Type Iii:

idTitleAuthorsYear
1
Apolipoprotein E phenotyping--useful in the study of hyperlipoproteinemia type III]. (8480294)
1993
2
Normolipemic dysbetalipoproteinemia and hyperlipoproteinemia type III in subjects homozygous for a rare genetic apolipoprotein E variant (apoE1). (1973700)
1990
3
Serum and interstitial fluid apolipoprotein E levels in the healthy and in hyperlipoproteinemia type III as studied by radioimmunoassay. (4042371)
1985
4
Apolipoprotein E (role in lipoprotein metabolism and pathophysiology of hyperlipoproteinemia type III). (6283616)
1982
5
Polymorphism of apolipoprotein E. II. Genetics of hyperlipoproteinemia type III. (215360)
1979
6
Polymorphism of apolipoprotein E. I. Methodological aspects and diagnosis of hyperlipoproteinemia type III without ultracentrifugation. (215358)
1978
7
Familial hyperlipoproteinemia type III: deficiency of a specific apolipoprotein (apo E-III) in the very-low-density lipoproteins. (169165)
1975

Variations for Hyperlipoproteinemia Type Iii

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Expression for genes affiliated with Hyperlipoproteinemia Type Iii

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperlipoproteinemia Type Iii

Search GEO for disease gene expression data for Hyperlipoproteinemia Type Iii.

Pathways for genes affiliated with Hyperlipoproteinemia Type Iii

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51PathCards, 39NCBI BioSystems Database, 13EMD Millipore, 55R&D Systems, 31KEGG, 56Reactome, 52PharmGKB
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Pathways related to Hyperlipoproteinemia Type Iii according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7HMGCR, LDLR
2
Show member pathways
Vitamin B12 Metabolism39
9.7APOA1, APOE
39.7CETP, APOB
49.6LDLR, APOE
59.6APOA1, APOB
69.3APOA1, APOB, LPA
7
Show member pathways
thioredoxin pathway39
9.2LDLR, APOB, APOA1
8
Show member pathways
9.2APOE, APOA1, APOB
9
Show member pathways
fatty acid beta-oxidation VI (peroxisome)39
9.0LPL, APOA5, APOA1
10
Show member pathways
8.9LDLR, LPL, HMGCR
11
Show member pathways
8.7HMGCR, LPL, APOA5, APOA1
127.9LPL, LDLR, APOB, APOA1, APOE
13
Show member pathways
7.9APOE, APOA1, APOB, LDLR, LPL
14
Show member pathways
6.4LPL, APOE, LPA, CETP, LDLR, LIPC
15
Show member pathways
6.3APOE, APOA1, APOA5, APOB, LIPC, LDLR
16
Show member pathways
6.0APOE, APOA1, APOA5, APOB, LIPC, LDLR

Compounds for genes affiliated with Hyperlipoproteinemia Type Iii

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46Novoseek, 25HMDB, 30IUPHAR, 12DrugBank, 52PharmGKB, 62Tocris Bioscience
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Compounds related to Hyperlipoproteinemia Type Iii according to GeneCards/GeneDecks:

(show top 50)    (show all 444)
idCompoundScoreTop Affiliating Genes
1psyllium469.2LDLR, APOB, HMGCR, CETP
2colestipol469.0HMGCR, COG2, APOA1, APOB
3dimyristoylphosphatidylcholine469.0LPA, APOE, APOA1, APOA5, LDLR
4campesterol46 2510.0APOE, HMGCR, APOB, APOA1
5acipimox46 309.8APOA1, HMGCR, CETP, APOB
6mspi468.8APOA1, LPA, CETP, APOB, LDLR
77-ketocholesterol46 259.8APOB, APOA1, APOE, HMGCR
8lathosterol46 259.8CETP, APOE, APOB, LDLR, HMGCR
9fenofibric acid46 309.6APOA1, APOB, LPL, HMGCR
10sele468.6APOE, CETP, LPL, LDLR
11ezetimibe46 129.4APOA1, LDLR, HMGCR, COG2, CETP, APOB
12ciprofibrate46 309.4LPL, LDLR, APOA1, APOB, HMGCR
13xbai468.3APOB, LDLR, APOE, LPL, CETP
14tocopherol468.3APOA1, APOB, LPL, LDLR, HMGCR
15homocysteine46 259.3COG2, LPA, APOE, APOA1, CETP, APOB
16dextran sulfate468.2APOA1, APOB, CETP, LDLR, LPL
17retinyl palmitate46 259.2APOE, APOA1, COG2, APOB, LPL
18cholestyramine468.0HMGCR, COG2, LPA, CETP, LDLR, APOB
19rosuvastatin46 52 30 1211.0APOA1, COG2, HMGCR, CETP, LDLR, APOB
20intralipid467.8CETP, LIPC, APOB, APOA1, APOE, LPL
21oleic acid46 30 25 1210.8LPA, LDLR, LIPC, APOB, LPL, CETP
22pioglitazone30 46 52 1210.6APOA1, COG2, LPL, APOB, LIPC
23aspirin46 52 30 2510.6COG2, HMGCR, CETP, LDLR, APOB, APOA1
24alpha tocopherol467.6HMGCR, LPL, CETP, LDLR, APOB, APOE
25stearic acid46 25 129.5LDLR, CETP, LPL, LIPC, COG2
26palmitate467.5LPL, APOB, COG2, APOE, CETP, LDLR
27sterol467.4HMGCR, APOE, APOA1, APOB, LIPC, LDLR
28niacin46 128.3HMGCR, APOA1, APOB, COG2, LPL, LPA
29fluvastatin46 52 30 1210.2APOE, APOB, LDLR, CETP, LPL, COG2
30cyclosporin a46 30 629.1LPL, HMGCR, COG2, CETP, LDLR, LIPC
31vitamin a46 25 129.1LIPC, LDLR, LPA, LPL, APOB, APOA1
32phosphatidylcholine467.1APOE, APOA1, APOB, LIPC, LDLR, CETP
33probucol46 128.1APOE, APOA1, APOB, LIPC, LDLR, CETP
34fatty acid467.0LDLR, APOA5, COG2, LPL, APOB, LIPC
35pravastatin46 52 30 25 1210.8APOE, APOA1, APOB, LDLR, CETP, LPA
36phospholipid466.8APOB, APOE, APOA1, LIPC, LDLR, CETP
37testosterone46 62 25 129.7APOB, LIPC, LDLR, CETP, LPL, COG2
38triacylglycerol466.6LIPC, LDLR, CETP, LPL, COG2, APOB
39simvastatin46 52 62 30 25 1211.6APOE, APOA1, APOA5, APOB, LDLR, CETP
40estrogen466.4LPA, LDLR, LIPC, CETP, APOE, LPL
41heparin46 30 25 129.2APOE, APOA5, APOB, LIPC, LDLR, CETP
42bezafibrate46 30 128.2LPL, COG2, HMGCR, LPA, CETP, LDLR
43gemfibrozil30 46 128.2APOE, APOA1, APOB, LIPC, LDLR, CETP
44thyroxine46 257.2APOE, APOA1, APOB, LIPC, LDLR, CETP
45cholesterol ester466.2HMGCR, COG2, LPL, LPA, APOE, CETP
46lovastatin46 52 62 30 129.9APOA5, APOB, LIPC, LDLR, CETP, LPA
47fenofibrate46 52 127.9APOE, APOA1, APOA5, APOB, LIPC, LDLR
48atorvastatin46 52 30 25 129.9APOE, APOA1, APOA5, APOB, LIPC, LDLR
49lipid465.9APOE, APOA1, APOA5, APOB, LIPC, LDLR
50cholesterol46 30 25 128.9APOE, HMGCR, COG2, LPL, LPA, CETP

GO Terms for genes affiliated with Hyperlipoproteinemia Type Iii

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17Gene Ontology
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Cellular components related to Hyperlipoproteinemia Type Iii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1clathrin-coated endocytic vesicle membraneGO:0306699.5LDLR, APOB
2endocytic vesicle lumenGO:0716829.2APOB, APOA1, APOE
3intermediate-density lipoprotein particleGO:0343639.2APOB, APOE
4low-density lipoprotein particleGO:0343629.0LDLR, APOB, APOA5, APOE
5high-density lipoprotein particleGO:0343648.7APOE, APOA1, APOA5, LIPC, CETP
6early endosomeGO:0057698.6APOE, APOA1, APOB, LDLR
7chylomicronGO:0426278.6APOE, APOA5, APOB, LPL
8very-low-density lipoprotein particleGO:0343618.3LPL, APOB, APOA5, APOA1, APOE
9extracellular regionGO:0055767.4APOE, APOA1, APOA5, APOB, CETP, LPA
10extracellular spaceGO:0056157.2APOE, APOA1, APOA5, APOB, LIPC, CETP

Biological processes related to Hyperlipoproteinemia Type Iii according to GeneCards/GeneDecks:

(show all 34)
idNameGO IDScoreTop Affiliating Genes
1cholesterol importGO:07050810.0APOA1, LDLR
2regulation of Cdc42 protein signal transductionGO:03248910.0APOA1, APOE
3peripheral nervous system axon regenerationGO:0140129.9APOA1, APOE
4high-density lipoprotein particle assemblyGO:0343809.9APOA1, APOE
5high-density lipoprotein particle clearanceGO:0343849.9APOE, APOA1
6phospholipid homeostasisGO:0550919.9CETP, APOA1
7positive regulation of cholesterol esterificationGO:0108739.9APOA1, APOE
8lipid transportGO:0068699.9LPA, CETP, APOA5
9phospholipid effluxGO:0337009.8APOA1, APOE
10low-density lipoprotein particle clearanceGO:0343839.7APOB, LDLR
11chylomicron remnant clearanceGO:0343829.6APOE, LIPC
12artery morphogenesisGO:0488449.5APOB, APOE
13lipoprotein biosynthetic processGO:0421589.5APOE, APOA1, APOB
14phospholipid transportGO:0159149.5CETP, LDLR
15cholesterol effluxGO:0333449.5APOB, APOA1, APOE
16lipoprotein catabolic processGO:0421599.4LDLR, APOB, APOE
17cellular lipid metabolic processGO:0442559.4APOA1, APOA5, HMGCR
18positive regulation of cholesterol storageGO:0108869.3LPL, APOB
19cholesterol transportGO:0303019.3APOA1, APOB, LDLR, CETP
20positive regulation of macrophage derived foam cell differentiationGO:0107449.1LPL, APOB
21high-density lipoprotein particle remodelingGO:0343759.1APOE, APOA1, LIPC, CETP
22reverse cholesterol transportGO:0436919.1CETP, LIPC, APOA1, APOE
23low-density lipoprotein particle remodelingGO:0343749.0CETP, LIPC, APOB, APOE
24triglyceride metabolic processGO:0066418.9APOE, APOA5, CETP, LPL
25receptor-mediated endocytosisGO:0068988.8APOE, APOB, LDLR, CETP, LPA
26very-low-density lipoprotein particle remodelingGO:0343728.7APOE, LIPC, CETP, LPL
27triglyceride catabolic processGO:0194338.6APOA5, APOB, LIPC, LPL
28triglyceride homeostasisGO:0703288.5APOA1, APOA5, LIPC, CETP, LPL
29retinoid metabolic processGO:0015238.3APOE, APOA1, APOB, LDLR, LPL
30phototransduction, visible lightGO:0076038.3LPL, LDLR, APOB, APOA1, APOE
31cholesterol metabolic processGO:0082038.2APOE, APOA1, APOB, LIPC, LDLR, CETP
32cholesterol homeostasisGO:0426327.9APOE, APOA1, APOA5, APOB, LIPC, LDLR
33lipoprotein metabolic processGO:0421577.4LPL, APOE, LPA, CETP, LDLR, APOB
34small molecule metabolic processGO:0442817.0APOE, APOA1, APOA5, APOB, LDLR, CETP

Molecular functions related to Hyperlipoproteinemia Type Iii according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1phospholipid transporter activityGO:00554810.0APOA1, CETP
2phosphatidylcholine bindingGO:03121010.0CETP, APOA5
3lipase bindingGO:0354739.9APOB, APOA5
4phosphatidylcholine-sterol O-acyltransferase activator activityGO:0602289.9APOA1, APOE
5beta-amyloid bindingGO:0015409.7APOA1, APOE
6lipid transporter activityGO:0053199.6APOE, CETP
7triglyceride bindingGO:0171299.6CETP, LPL
8lipid bindingGO:0082899.5APOE, APOA5, CETP
9low-density lipoprotein particle receptor bindingGO:0507509.5APOB, APOA5, APOE
10low-density lipoprotein particle bindingGO:0301699.4LIPC, LDLR
11phospholipase activityGO:0046209.2LPL, LIPC
12phospholipid bindingGO:0055439.2APOE, APOA1, APOA5, APOB
13cholesterol transporter activityGO:0171279.1APOE, APOA1, APOB, CETP
14apolipoprotein bindingGO:0341859.0LPL, LPA, LIPC
15triglyceride lipase activityGO:0048068.7LPL, LIPC
16heparin bindingGO:0082017.8LPL, LPA, LIPC, APOB, APOA5, APOE

Products for genes affiliated with Hyperlipoproteinemia Type Iii

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Sources for Hyperlipoproteinemia Type Iii

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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