MCID: HYP011
MIFTS: 42

Hyperlipoproteinemia Type Iii malady

Genetic diseases, Rare diseases, Metabolic diseases, Endocrine diseases categories

Aliases & Classifications for Hyperlipoproteinemia Type Iii

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Sources:
8Disease Ontology, 44Novoseek, 61UMLS, 22GTR, 56SNOMED-CT, 39NCIt, 33MeSH
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Aliases & Descriptions for Hyperlipoproteinemia Type Iii:

Name: Hyperlipoproteinemia Type Iii 8 44 61
Familial Hypercholesterolaemia with Hyperlipaemia 8
Familial Hyperlipoproteinemia Type 3 22
 
Familial Type 3 Hyperlipoproteinemia 8
Carbohydrate Induced Hyperlipemia 8
Remnant Hyperlipidemia 8


Classifications:



External Ids:

Disease Ontology8 DOID:3145
NCIt39 C34710
SNOMED-CT56 398796005, 42569002
MeSH33 D006952

Summaries for Hyperlipoproteinemia Type Iii

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MalaCards based summary: Hyperlipoproteinemia Type Iii, also known as familial hypercholesterolaemia with hyperlipaemia, is related to hyperchylomicronemia, late-onset 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.

Related Diseases for Hyperlipoproteinemia Type Iii

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Diseases in the Hyperlipoproteinemia, Type Ib family:

Hyperlipoproteinemia, Type 1d Hyperlipoproteinemia Type Iv
hyperlipoproteinemia type iii

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

(show top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1hyperchylomicronemia, late-onset30.7LPL, APOE
2hyperlipidemia type 328.5HMGCR, COG2, LPL, LPA, CETP, LDLR
3cerebral atherosclerosis10.4APOA1
4lipoprotein glomerulopathy10.4APOE
5sitosterolemia10.4HMGCR
6chylomicron retention disease10.3APOB
7hyperlipoproteinemia type iv10.3
8hepatic lipase deficiency10.3LIPC
9norum disease10.2APOA1, LPA
10secondary amyloidosis10.2LPA, APOA1
11hemorrhage, intracerebral10.1APOE, HMGCR
12arcus senilis10.1APOA1, APOB
13alagille syndrome10.1LPA, APOA1
14hypertriglyceridemia10.1LPL, APOB
15alzheimer disease-210.1APOE, CETP
16aortic disease10.1LDLR, APOE
17macular degeneration, age-related, 110.0APOE, APOB
18hypothyroidism10.0LPA, CETP, APOB
19thrombophilia due to thrombin defect10.0HMGCR, CETP, APOB
20lipase deficiency, combined10.0LIPC, LPL
21glucose intolerance10.0APOB, LPL, COG2
22vascular dementia10.0LPA, APOE
23hypercholesterolemia, due to ligand-defective apo b9.9APOE, APOB, LDLR
24hypercholesterolemia, familial9.9APOB, LDLR, CETP, HMGCR
25hepatitis c9.9HMGCR, LPL, LDLR
26dementia9.9APOE, CETP, LPA, LPL
27amyloidosis9.8LPL, LPA, APOA1, APOE
28acute myocardial infarction9.8APOA1, APOB, LPA, HMGCR
29nicotine dependence, protection against9.8APOA1, APOB, LDLR, LPA
30hyperlipidemia, familial combined9.8APOE, APOA1, APOB, HMGCR
31hepatoblastoma9.8APOA1, APOB, LDLR, HMGCR
32hypobetalipoproteinemia9.8LDLR, APOB, APOA1, APOE
33peripheral vascular disease9.8APOA1, APOB, CETP, LPA, HMGCR
34lipodystrophy9.7APOB, LDLR, LPL, HMGCR
35xanthomatosis9.7APOE, APOB, LDLR, LPL
36rheumatoid arthritis9.7APOA1, LPA, LPL, HMGCR
37uremia9.7LIPC, LDLR, LPA, LPL
38hypertension, essential9.7APOA1, APOB, CETP, LPA, LPL
39primary hyperoxaluria9.7LIPC, CETP, LPA, COG2, HMGCR
40abetalipoproteinemia9.6APOE, APOA1, APOB, CETP, LPL
41metabolic syndrome x9.6LPL, CETP, LDLR, APOB, APOA1
42proteinuria9.6APOA1, APOB, CETP, LPA, COG2, HMGCR
43kidney disease9.6LPL, LPA, APOB, APOA1, APOE
44coronary stenosis9.6APOA1, APOB, LIPC, CETP, LPA
45diabetes mellitus, insulin-dependent9.5APOA1, APOB, LIPC, CETP, LPA
46hyperalphalipoproteinemia9.5LIPC, APOB, APOA1, LDLR, CETP
47stroke, ischemic9.5APOE, APOA1, APOB, LPA, COG2, HMGCR
48arteriosclerosis9.5APOA1, APOB, LDLR, LPL, COG2, HMGCR
49tangier disease9.5APOE, LPL, LPA, CETP, APOB, APOA1
50galactosemia9.4APOA1, APOB, LIPC, LDLR, CETP, LPA

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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Drug clinical trials:

Search ClinicalTrials for Hyperlipoproteinemia Type Iii

Search NIH Clinical Center for Hyperlipoproteinemia Type Iii

Genetic Tests for Hyperlipoproteinemia Type Iii

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Genetic tests related to Hyperlipoproteinemia Type Iii:

id Genetic test Affiliating Genes
1 Familial Type 3 Hyperlipoproteinemia22

Anatomical Context for Hyperlipoproteinemia Type Iii

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Animal Models for Hyperlipoproteinemia Type Iii or affiliated genes

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MGI Mouse Phenotypes related to Hyperlipoproteinemia Type Iii:

35
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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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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Search GEO for disease gene expression data for Hyperlipoproteinemia Type Iii.

Pathways for genes affiliated with Hyperlipoproteinemia Type Iii

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Pathways related to Hyperlipoproteinemia Type Iii according to GeneCards Suite gene sharing:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7LDLR, HMGCR
2
Show member pathways
Vitamin B12 Metabolism36
9.7APOA1, APOE
39.6LDLR, APOE
49.6APOB, APOA1
5
Show member pathways
thioredoxin pathway36
9.2LDLR, APOA1, APOB
6
Show member pathways
9.2APOB, APOA1, APOE
7
Show member pathways
fatty acid beta-oxidation VI (peroxisome)36
9.0APOA5, LPL, APOA1
8
Show member pathways
8.9LDLR, HMGCR, LPL
9
Show member pathways
8.7LPL, HMGCR, APOA5, APOA1
107.9APOA1, APOB, LPL, LDLR, APOE
11
Show member pathways
7.9APOB, APOE, APOA1, LDLR, LPL
12
Show member pathways
6.4LDLR, APOE, APOA1, APOA5, LPA, LPL
13
Show member pathways
6.3APOA1, APOB, HMGCR, LPL, CETP, LDLR
14
Show member pathways
6.0APOA5, APOE, APOB, HMGCR, LPL, LPA

Compounds for genes affiliated with Hyperlipoproteinemia Type Iii

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Compounds related to Hyperlipoproteinemia Type Iii according to GeneCards Suite gene sharing:

(show top 50)    (show all 444)
idCompoundScoreTop Affiliating Genes
1psyllium449.2LDLR, APOB, HMGCR, CETP
2colestipol449.0HMGCR, COG2, APOA1, APOB
3dimyristoylphosphatidylcholine449.0LPA, APOE, APOA1, APOA5, LDLR
4campesterol44 2410.0APOE, HMGCR, APOB, APOA1
5acipimox44 289.8APOA1, HMGCR, CETP, APOB
6mspi448.8APOA1, LPA, CETP, APOB, LDLR
77-ketocholesterol44 249.8APOB, APOA1, APOE, HMGCR
8lathosterol44 249.8CETP, APOE, APOB, LDLR, HMGCR
9fenofibric acid44 289.6APOA1, APOB, LPL, HMGCR
10sele448.6APOE, CETP, LPL, LDLR
11ezetimibe44 119.4APOA1, LDLR, HMGCR, COG2, CETP, APOB
12ciprofibrate44 289.4LPL, LDLR, APOA1, APOB, HMGCR
13xbai448.3APOB, LDLR, APOE, LPL, CETP
14tocopherol448.3APOA1, APOB, LPL, LDLR, HMGCR
15homocysteine44 249.3COG2, LPA, APOE, APOA1, CETP, APOB
16dextran sulfate448.2APOA1, APOB, CETP, LDLR, LPL
17retinyl palmitate44 249.2APOE, APOA1, COG2, APOB, LPL
18cholestyramine448.0HMGCR, COG2, LPA, CETP, LDLR, APOB
19rosuvastatin44 50 28 1111.0APOA1, COG2, HMGCR, CETP, LDLR, APOB
20intralipid447.8CETP, LIPC, APOB, APOA1, APOE, LPL
21oleic acid44 28 24 1110.8LPA, LDLR, LIPC, APOB, LPL, CETP
22pioglitazone28 44 50 1110.6APOA1, COG2, LPL, APOB, LIPC
23aspirin44 50 28 2410.6COG2, HMGCR, CETP, LDLR, APOB, APOA1
24alpha tocopherol447.6HMGCR, LPL, CETP, LDLR, APOB, APOE
25stearic acid44 24 119.5LDLR, CETP, LPL, LIPC, COG2
26palmitate447.5LPL, APOB, COG2, APOE, CETP, LDLR
27sterol447.4HMGCR, APOE, APOA1, APOB, LIPC, LDLR
28niacin44 118.3HMGCR, APOA1, APOB, COG2, LPL, LPA
29fluvastatin44 50 28 1110.2APOE, APOB, LDLR, CETP, LPL, COG2
30cyclosporin a44 28 609.1LPL, HMGCR, COG2, CETP, LDLR, LIPC
31vitamin a44 24 119.1LIPC, LDLR, LPA, LPL, APOB, APOA1
32phosphatidylcholine447.1APOE, APOA1, APOB, LIPC, LDLR, CETP
33probucol44 118.1APOE, APOA1, APOB, LIPC, LDLR, CETP
34fatty acid447.0LDLR, APOA5, COG2, LPL, APOB, LIPC
35pravastatin44 50 28 24 1110.8APOE, APOA1, APOB, LDLR, CETP, LPA
36phospholipid446.8APOB, APOE, APOA1, LIPC, LDLR, CETP
37testosterone44 60 24 119.7APOB, LIPC, LDLR, CETP, LPL, COG2
38triacylglycerol446.6LIPC, LDLR, CETP, LPL, COG2, APOB
39simvastatin44 50 60 28 24 1111.6APOE, APOA1, APOA5, APOB, LDLR, CETP
40estrogen446.4LPA, LDLR, LIPC, CETP, APOE, LPL
41heparin44 28 24 119.2APOE, APOA5, APOB, LIPC, LDLR, CETP
42bezafibrate44 28 118.2LPL, COG2, HMGCR, LPA, CETP, LDLR
43gemfibrozil28 44 118.2APOE, APOA1, APOB, LIPC, LDLR, CETP
44thyroxine44 247.2APOE, APOA1, APOB, LIPC, LDLR, CETP
45cholesterol ester446.2HMGCR, COG2, LPL, LPA, APOE, CETP
46lovastatin44 50 60 28 119.9APOA5, APOB, LIPC, LDLR, CETP, LPA
47fenofibrate44 50 117.9APOE, APOA1, APOA5, APOB, LIPC, LDLR
48atorvastatin44 50 28 24 119.9APOE, APOA1, APOA5, APOB, LIPC, LDLR
49lipid445.9APOE, APOA1, APOA5, APOB, LIPC, LDLR
50cholesterol44 28 24 118.9APOE, HMGCR, COG2, LPL, LPA, CETP

GO Terms for genes affiliated with Hyperlipoproteinemia Type Iii

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Cellular components related to Hyperlipoproteinemia Type Iii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1clathrin-coated endocytic vesicle membraneGO:00306699.5LDLR, APOB
2endocytic vesicle lumenGO:00716829.2APOB, APOA1, APOE
3intermediate-density lipoprotein particleGO:00343639.2APOB, APOE
4low-density lipoprotein particleGO:00343629.0LDLR, APOB, APOA5, APOE
5high-density lipoprotein particleGO:00343648.7APOE, APOA1, APOA5, LIPC, CETP
6early endosomeGO:00057698.6APOE, APOA1, APOB, LDLR
7chylomicronGO:00426278.6APOE, APOA5, APOB, LPL
8very-low-density lipoprotein particleGO:00343618.3LPL, APOB, APOA5, APOA1, APOE
9extracellular regionGO:00055767.4APOE, APOA1, APOA5, APOB, CETP, LPA
10extracellular spaceGO:00056157.2APOE, APOA1, APOA5, APOB, LIPC, CETP

Biological processes related to Hyperlipoproteinemia Type Iii according to GeneCards Suite gene sharing:

(show all 34)
idNameGO IDScoreTop Affiliating Genes
1cholesterol importGO:007050810.0LDLR, APOA1
2regulation of Cdc42 protein signal transductionGO:003248910.0APOA1, APOE
3peripheral nervous system axon regenerationGO:00140129.9APOE, APOA1
4high-density lipoprotein particle assemblyGO:00343809.9APOE, APOA1
5high-density lipoprotein particle clearanceGO:00343849.9APOA1, APOE
6phospholipid homeostasisGO:00550919.9APOA1, CETP
7lipid transportGO:00068699.9APOA5, LPA, CETP
8positive regulation of cholesterol esterificationGO:00108739.9APOE, APOA1
9phospholipid effluxGO:00337009.8APOA1, APOE
10low-density lipoprotein particle clearanceGO:00343839.7LDLR, APOB
11chylomicron remnant clearanceGO:00343829.6LIPC, APOE
12artery morphogenesisGO:00488449.5APOB, APOE
13lipoprotein biosynthetic processGO:00421589.5APOB, APOA1, APOE
14phospholipid transportGO:00159149.5CETP, LDLR
15cholesterol effluxGO:00333449.5APOB, APOA1, APOE
16lipoprotein catabolic processGO:00421599.4LDLR, APOE, APOB
17cellular lipid metabolic processGO:00442559.4HMGCR, APOA5, APOA1
18positive regulation of cholesterol storageGO:00108869.3LPL, APOB
19cholesterol transportGO:00303019.3CETP, LDLR, APOB, APOA1
20positive regulation of macrophage derived foam cell differentiationGO:00107449.1LPL, APOB
21high-density lipoprotein particle remodelingGO:00343759.1LIPC, APOA1, APOE, CETP
22reverse cholesterol transportGO:00436919.1APOA1, CETP, LIPC, APOE
23low-density lipoprotein particle remodelingGO:00343749.0CETP, APOB, LIPC, APOE
24triglyceride metabolic processGO:00066418.9CETP, LPL, APOE, APOA5
25receptor-mediated endocytosisGO:00068988.8APOB, LDLR, APOE, CETP, LPA
26very-low-density lipoprotein particle remodelingGO:00343728.7APOE, CETP, LIPC, LPL
27triglyceride catabolic processGO:00194338.6LPL, APOB, APOA5, LIPC
28triglyceride homeostasisGO:00703288.5APOA5, APOA1, LIPC, CETP, LPL
29retinoid metabolic processGO:00015238.3LPL, LDLR, APOB, APOA1, APOE
30phototransduction, visible lightGO:00076038.3LPL, LDLR, APOE, APOA1, APOB
31cholesterol metabolic processGO:00082038.2APOE, APOA1, APOB, LIPC, LDLR, CETP
32cholesterol homeostasisGO:00426327.9APOB, CETP, LDLR, APOE, APOA1, APOA5
33lipoprotein metabolic processGO:00421577.4APOB, APOA5, APOA1, APOE, LDLR, LPA
34small molecule metabolic processGO:00442817.0HMGCR, CETP, LPL, LDLR, LPA, APOA1

Molecular functions related to Hyperlipoproteinemia Type Iii according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1phospholipid transporter activityGO:000554810.0APOA1, CETP
2phosphatidylcholine bindingGO:003121010.0CETP, APOA5
3lipase bindingGO:00354739.9APOB, APOA5
4phosphatidylcholine-sterol O-acyltransferase activator activityGO:00602289.9APOA1, APOE
5beta-amyloid bindingGO:00015409.7APOA1, APOE
6lipid transporter activityGO:00053199.6APOE, CETP
7triglyceride bindingGO:00171299.6CETP, LPL
8lipid bindingGO:00082899.5APOE, APOA5, CETP
9low-density lipoprotein particle receptor bindingGO:00507509.5APOB, APOA5, APOE
10low-density lipoprotein particle bindingGO:00301699.4LIPC, LDLR
11phospholipase activityGO:00046209.2LPL, LIPC
12phospholipid bindingGO:00055439.2APOE, APOA1, APOA5, APOB
13cholesterol transporter activityGO:00171279.1APOE, APOA1, APOB, CETP
14apolipoprotein bindingGO:00341859.0LPL, LPA, LIPC
15triglyceride lipase activityGO:00048068.7LPL, LIPC
16heparin bindingGO:00082017.8LPL, LPA, LIPC, APOB, APOA5, APOE

Sources for Hyperlipoproteinemia Type Iii

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet