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:
9Disease Ontology, 43Novoseek, 22GTR, 60UMLS, 55SNOMED-CT, 38NCIt, 33MeSH
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Hyperlipoproteinemia Type Iii, Aliases & Descriptions:

Name: Hyperlipoproteinemia Type Iii 9 43 60
Familial Hypercholesterolaemia with Hyperlipaemia 9
Familial Hyperlipoproteinemia Type 3 22
 
Familial Type 3 Hyperlipoproteinemia 9
Carbohydrate Induced Hyperlipemia 9
Remnant Hyperlipidemia 9


Classifications:



External Ids:

Disease Ontology9 DOID:3145
NCIt38 C34710
SNOMED-CT55 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
19.7HMGCR, LDLR
2
Show member pathways
Vitamin B12 Metabolism36
9.7APOA1, APOE
39.6LDLR, APOE
49.6APOA1, APOB
5
Show member pathways
thioredoxin pathway36
9.2LDLR, APOB, APOA1
6
Show member pathways
9.2APOE, APOA1, APOB
7
Show member pathways
fatty acid beta-oxidation VI (peroxisome)36
9.0LPL, APOA5, APOA1
8
Show member pathways
8.9LDLR, LPL, HMGCR
9
Show member pathways
8.7HMGCR, LPL, APOA5, APOA1
107.9LPL, LDLR, APOB, APOA1, APOE
11
Show member pathways
7.9APOE, APOA1, APOB, LDLR, LPL
12
Show member pathways
6.4LPL, APOE, LPA, CETP, LDLR, LIPC
13
Show member pathways
6.3APOE, APOA1, APOA5, APOB, LIPC, LDLR
14
Show member pathways
6.0APOE, APOA1, APOA5, APOB, LIPC, LDLR

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
1psyllium439.2LDLR, APOB, HMGCR, CETP
2colestipol439.0HMGCR, COG2, APOA1, APOB
3dimyristoylphosphatidylcholine439.0LPA, APOE, APOA1, APOA5, LDLR
4campesterol43 2410.0APOE, HMGCR, APOB, APOA1
5acipimox43 289.8APOA1, HMGCR, CETP, APOB
6mspi438.8APOA1, LPA, CETP, APOB, LDLR
77-ketocholesterol43 249.8APOB, APOA1, APOE, HMGCR
8lathosterol43 249.8CETP, APOE, APOB, LDLR, HMGCR
9fenofibric acid43 289.6APOA1, APOB, LPL, HMGCR
10sele438.6APOE, CETP, LPL, LDLR
11ezetimibe43 129.4APOA1, LDLR, HMGCR, COG2, CETP, APOB
12ciprofibrate43 289.4LPL, LDLR, APOA1, APOB, HMGCR
13xbai438.3APOB, LDLR, APOE, LPL, CETP
14tocopherol438.3APOA1, APOB, LPL, LDLR, HMGCR
15homocysteine43 249.3COG2, LPA, APOE, APOA1, CETP, APOB
16dextran sulfate438.2APOA1, APOB, CETP, LDLR, LPL
17retinyl palmitate43 249.2APOE, APOA1, COG2, APOB, LPL
18cholestyramine438.0HMGCR, COG2, LPA, CETP, LDLR, APOB
19rosuvastatin43 49 28 1211.0APOA1, COG2, HMGCR, CETP, LDLR, APOB
20intralipid437.8CETP, LIPC, APOB, APOA1, APOE, LPL
21oleic acid43 28 24 1210.8LPA, LDLR, LIPC, APOB, LPL, CETP
22pioglitazone28 43 49 1210.6APOA1, COG2, LPL, APOB, LIPC
23aspirin43 49 28 2410.6COG2, HMGCR, CETP, LDLR, APOB, APOA1
24alpha tocopherol437.6HMGCR, LPL, CETP, LDLR, APOB, APOE
25stearic acid43 24 129.5LDLR, CETP, LPL, LIPC, COG2
26palmitate437.5LPL, APOB, COG2, APOE, CETP, LDLR
27sterol437.4HMGCR, APOE, APOA1, APOB, LIPC, LDLR
28niacin43 128.3HMGCR, APOA1, APOB, COG2, LPL, LPA
29fluvastatin43 49 28 1210.2APOE, APOB, LDLR, CETP, LPL, COG2
30cyclosporin a43 28 599.1LPL, HMGCR, COG2, CETP, LDLR, LIPC
31vitamin a43 24 129.1LIPC, LDLR, LPA, LPL, APOB, APOA1
32phosphatidylcholine437.1APOE, APOA1, APOB, LIPC, LDLR, CETP
33probucol43 128.1APOE, APOA1, APOB, LIPC, LDLR, CETP
34fatty acid437.0LDLR, APOA5, COG2, LPL, APOB, LIPC
35pravastatin43 49 28 24 1210.8APOE, APOA1, APOB, LDLR, CETP, LPA
36phospholipid436.8APOB, APOE, APOA1, LIPC, LDLR, CETP
37testosterone43 59 24 129.7APOB, LIPC, LDLR, CETP, LPL, COG2
38triacylglycerol436.6LIPC, LDLR, CETP, LPL, COG2, APOB
39simvastatin43 49 59 28 24 1211.6APOE, APOA1, APOA5, APOB, LDLR, CETP
40estrogen436.4LPA, LDLR, LIPC, CETP, APOE, LPL
41heparin43 28 24 129.2APOE, APOA5, APOB, LIPC, LDLR, CETP
42bezafibrate43 28 128.2LPL, COG2, HMGCR, LPA, CETP, LDLR
43gemfibrozil28 43 128.2APOE, APOA1, APOB, LIPC, LDLR, CETP
44thyroxine43 247.2APOE, APOA1, APOB, LIPC, LDLR, CETP
45cholesterol ester436.2HMGCR, COG2, LPL, LPA, APOE, CETP
46lovastatin43 49 59 28 129.9APOA5, APOB, LIPC, LDLR, CETP, LPA
47fenofibrate43 49 127.9APOE, APOA1, APOA5, APOB, LIPC, LDLR
48atorvastatin43 49 28 24 129.9APOE, APOA1, APOA5, APOB, LIPC, LDLR
49lipid435.9APOE, APOA1, APOA5, APOB, LIPC, LDLR
50cholesterol43 28 24 128.9APOE, 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:007050810.0APOA1, LDLR
2regulation of Cdc42 protein signal transductionGO:003248910.0APOA1, APOE
3peripheral nervous system axon regenerationGO:00140129.9APOA1, APOE
4high-density lipoprotein particle assemblyGO:00343809.9APOA1, APOE
5high-density lipoprotein particle clearanceGO:00343849.9APOE, APOA1
6phospholipid homeostasisGO:00550919.9CETP, APOA1
7positive regulation of cholesterol esterificationGO:00108739.9APOA1, APOE
8lipid transportGO:00068699.9LPA, CETP, APOA5
9phospholipid effluxGO:00337009.8APOA1, APOE
10low-density lipoprotein particle clearanceGO:00343839.7APOB, LDLR
11chylomicron remnant clearanceGO:00343829.6APOE, LIPC
12artery morphogenesisGO:00488449.5APOB, APOE
13lipoprotein biosynthetic processGO:00421589.5APOE, APOA1, APOB
14phospholipid transportGO:00159149.5CETP, LDLR
15cholesterol effluxGO:00333449.5APOB, APOA1, APOE
16lipoprotein catabolic processGO:00421599.4LDLR, APOB, APOE
17cellular lipid metabolic processGO:00442559.4APOA1, APOA5, HMGCR
18positive regulation of cholesterol storageGO:00108869.3LPL, APOB
19cholesterol transportGO:00303019.3APOA1, APOB, LDLR, CETP
20positive regulation of macrophage derived foam cell differentiationGO:00107449.1LPL, APOB
21high-density lipoprotein particle remodelingGO:00343759.1APOE, APOA1, LIPC, CETP
22reverse cholesterol transportGO:00436919.1CETP, LIPC, APOA1, APOE
23low-density lipoprotein particle remodelingGO:00343749.0CETP, LIPC, APOB, APOE
24triglyceride metabolic processGO:00066418.9APOE, APOA5, CETP, LPL
25receptor-mediated endocytosisGO:00068988.8APOE, APOB, LDLR, CETP, LPA
26very-low-density lipoprotein particle remodelingGO:00343728.7APOE, LIPC, CETP, LPL
27triglyceride catabolic processGO:00194338.6APOA5, APOB, LIPC, LPL
28triglyceride homeostasisGO:00703288.5APOA1, APOA5, LIPC, CETP, LPL
29retinoid metabolic processGO:00015238.3APOE, APOA1, APOB, LDLR, LPL
30phototransduction, visible lightGO:00076038.3LPL, LDLR, APOB, APOA1, APOE
31cholesterol metabolic processGO:00082038.2APOE, APOA1, APOB, LIPC, LDLR, CETP
32cholesterol homeostasisGO:00426327.9APOE, APOA1, APOA5, APOB, LIPC, LDLR
33lipoprotein metabolic processGO:00421577.4LPL, APOE, LPA, CETP, LDLR, APOB
34small molecule metabolic processGO:00442817.0APOE, APOA1, APOA5, APOB, LDLR, CETP

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

Products for genes affiliated with Hyperlipoproteinemia Type Iii

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Sources for Hyperlipoproteinemia Type Iii

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet