MCID: HYP031
MIFTS: 37

Hyperlipoproteinemia Type V malady

Metabolic, Endocrine, Genetic categories

Summaries for Hyperlipoproteinemia Type V

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Hyperlipidemia, hyperlipoproteinemia, or hyperlipidaemia (British English) involves abnormally elevated... more...

MalaCards: Hyperlipoproteinemia Type V, also known as familial type 5 hyperlipoproteinemia, is related to xanthomatosis and lipoprotein lipase deficiency. An important gene associated with Hyperlipoproteinemia Type V is APOA5 (apolipoprotein A-V), and among its related pathways are PPAR signaling pathway and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The compounds dimyristoylphosphatidylcholine and sele have been mentioned in the context of this disorder. Related mouse phenotype homeostasis/metabolism.

Description from OMIM:47 144650

Aliases & Classifications for Hyperlipoproteinemia Type V

Sources:
8Disease Ontology, 43NIH Rare Diseases, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 35MeSH, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

hyperlipoproteinemia type v 8 45 61
familial type 5 hyperlipoproteinemia 8 22
hyperlipoproteinemia type 5 43 49
hyperchylomicronemia with hyperprebetalipoproteinemia, familial 43
hyperlipemia combined fat and carbohydrate-induced 43
familial hyperlipoproteinemia type v 8
hyperchylomicronemia, late-onset 47
hyperchylomicronemia late onset 43
fredrickson type v lipaemia 8
hyperlipidemia type v 43
major hyperlipidemia 49
hyperlipemia mixed 43


External Ids:

Disease Ontology8 DOID:1171
OMIM47 144650
SNOMED-CT via Orphanet58 34349009
SNOMED-CT57 190781009, 34349009
UMLS via Orphanet62 C0020481
MESH via Orphanet36 D006954
ICD10 via Orphanet26 E78.3

Related Diseases for Hyperlipoproteinemia Type V

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Hyperlipoproteinemia Type V:



Diseases related to hyperlipoproteinemia type v

Clinical Features for Hyperlipoproteinemia Type V

Sources:
47OMIM
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Clinical features from OMIM:

144650

Clinical synopsis from OMIM:

144650

Drugs & Therapeutics for Hyperlipoproteinemia Type V

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Hyperlipoproteinemia Type V

Drug clinical trials:

Search ClinicalTrials for Hyperlipoproteinemia Type V

Search NIH Clinical Center for Hyperlipoproteinemia Type V

Search CenterWatch for Hyperlipoproteinemia Type V

Genetic Tests for Hyperlipoproteinemia Type V

Sources:
22GTR
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Genetic tests related to Hyperlipoproteinemia Type V:

id Genetic test Affiliating Genes
1 Familial Type 5 Hyperlipoproteinemia22

Anatomical Context for Hyperlipoproteinemia Type V

Animal Models for Hyperlipoproteinemia Type V or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Hyperlipoproteinemia Type V:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.9GPIHBP1, CREB3L3, LPL, APOA5, APOE

Publications for Hyperlipoproteinemia Type V

Sources:
51PubMed
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Articles related to Hyperlipoproteinemia Type V:

idTitleAuthorsYear
1
Biophysical analysis of apolipoprotein E3 variants linked with development of type III hyperlipoproteinemia. (22069485)
2011
2
Differential effects of fenofibrate versus atorvastatin on the concentrations of E-selectin and vascular cellular adhesion molecule-1 in patients with type 2 diabetes mellitus and mixed hyperlipoproteinemia: a randomized cross-over trial. (14662011)
2003
3
Comparison of the hypolipidemic effect of gemfibrozil versus simvastatin in patients with type III hyperlipoproteinemia. (10385780)
1999
4
Variable heparan sulfate proteoglycan binding of apolipoprotein E variants may modulate the expression of type III hyperlipoproteinemia. (8175773)
1994
5
The functional characteristics of a human apolipoprotein E variant (cysteine at residue 142) may explain its association with dominant expression of type III hyperlipoproteinemia. (1730728)
1992
6
Normolipemic dysbetalipoproteinemia and hyperlipoproteinemia type III in subjects homozygous for a rare genetic apolipoprotein E variant (apoE1). (1973700)
1990
7
Type III hyperlipoproteinemia associated with apolipoprotein E phenotype E3/3. Structure and genetics of an apolipoprotein E3 variant. (2539388)
1989
8
Apolipoprotein E2-Christchurch (136 Arg----Ser). New variant of human apolipoprotein E in a patient with type III hyperlipoproteinemia. (3038959)
1987

Genetic Variations for Hyperlipoproteinemia Type V

Expression for genes affiliated with Hyperlipoproteinemia Type V

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperlipoproteinemia Type V

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

Pathways for genes affiliated with Hyperlipoproteinemia Type V

Sources:
30KEGG, 54Reactome, 38NCBI BioSystems Database, 50PharmGKB
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Compounds for genes affiliated with Hyperlipoproteinemia Type V

Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 50PharmGKB, 60Tocris Bioscience
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Compounds related to Hyperlipoproteinemia Type V according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1dimyristoylphosphatidylcholine459.8APOA5, APOE
2sele459.8APOE, LPL
3retinyl palmitate45 2410.8LPL, APOE
4intralipid459.8APOE, LPL
5xbai459.8LPL, APOE
6probucol45 1110.8LPL, APOE
7cholesterol ester459.7APOE, LPL
8bezafibrate45 29 1111.7LPL, APOE
9fenofibrate45 50 1111.7LPL, APOA5
10ritonavir45 50 1111.7APOE, LPL
11streptozotocin459.6LPL, APOE
12trioleoylglycerol459.6APOC2, LPL
13fluvastatin45 50 29 1112.5APOE, LPL
14alpha tocopherol459.5LPL, APOE
15dodecylphosphocholine459.5APOE, APOC2
16thioflavin t459.5APOC2, APOE
17betacarotene459.4LPL, APOE
18lovastatin45 50 60 29 1113.2LPL, APOE
19gemfibrozil45 29 1111.0LPL, APOC2, APOE
20sodium dodecylsulfate459.0LPL, APOC2, APOE
21vitamin a45 11 2411.0LPL, APOC2, APOE
22phospholipid458.9LPL, APOC2, APOE
23fatty acid458.9LPL, APOC2, APOA5
24triacylglycerol458.6LPL, APOC2, APOA5, APOE
25heparin45 29 11 2411.6LPL, APOC2, APOA5, APOE
26cholesterol45 29 11 2411.6LPL, APOC2, APOA5, APOE
27lipid458.5LPL, APOC2, APOA5, APOE

GO Terms for genes affiliated with Hyperlipoproteinemia Type V

Sources:
16Gene Ontology
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Cellular components related to Hyperlipoproteinemia Type V according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate-density lipoprotein particleGO:0343639.0APOC2, APOE
2high-density lipoprotein particleGO:0343649.0APOE, APOA5, GPIHBP1
3low-density lipoprotein particleGO:0343628.8APOC2, APOA5, APOE
4chylomicronGO:0426278.4LPL, APOC2, APOA5, APOE
5very-low-density lipoprotein particleGO:0343618.4APOE, APOA5, APOC2, LPL
6extracellular regionGO:0055768.3LPL, APOC2, APOA5, APOE
7extracellular spaceGO:0056158.0APOE, APOA5, APOC2, LPL

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1triglyceride catabolic processGO:0194339.6LPL, APOA5
2positive regulation of very-low-density lipoprotein particle remodelingGO:0109029.5APOA5, APOC2
3triglyceride-rich lipoprotein particle remodelingGO:0343709.5APOA5, APOC2
4chylomicron remodelingGO:0343719.5APOC2, LPL
5positive regulation of triglyceride catabolic processGO:0108989.4APOA5, APOC2
6positive regulation of fatty acid biosynthetic processGO:0457239.4APOC2, APOA5
7triglyceride metabolic processGO:0066419.4LPL, APOA5, APOE
8high-density lipoprotein particle clearanceGO:0343849.4APOE, APOC2
9chylomicron remnant clearanceGO:0343829.3APOE, APOC2
10lipid transportGO:0068699.2GPIHBP1, APOA5
11phospholipid effluxGO:0337009.2APOE, APOC2
12reverse cholesterol transportGO:0436919.2APOC2, APOE
13positive regulation of lipoprotein lipase activityGO:0510069.0GPIHBP1, APOC2, APOA5
14cholesterol effluxGO:0333449.0APOE, APOC2
15very-low-density lipoprotein particle remodelingGO:0343729.0APOE, APOC2, LPL
16retinoid metabolic processGO:0015239.0LPL, APOC2, APOE
17phototransduction, visible lightGO:0076038.9LPL, APOC2, APOE
18triglyceride homeostasisGO:0703288.6GPIHBP1, LPL, APOC2, APOA5
19lipoprotein metabolic processGO:0421578.6APOE, APOA5, APOC2, LPL
20cholesterol homeostasisGO:0426328.5GPIHBP1, APOC2, APOA5, APOE
21small molecule metabolic processGO:0442818.3LPL, APOC2, APOA5, APOE

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1lipase bindingGO:0354739.7GPIHBP1, APOA5
2apolipoprotein bindingGO:0341859.5GPIHBP1, LPL
3lipoprotein particle bindingGO:0718139.4APOE, GPIHBP1
4lipoprotein lipase activator activityGO:0602309.3APOC2, APOA5
5low-density lipoprotein particle receptor bindingGO:0507509.2APOA5, APOE
6heparin bindingGO:0082019.0LPL, APOA5, APOE
7lipid bindingGO:0082898.3GPIHBP1, APOC2, APOA5, APOE

Products for genes affiliated with Hyperlipoproteinemia Type V

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Sources for Hyperlipoproteinemia Type V

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet