MCID: HYP031
MIFTS: 45

Hyperlipoproteinemia Type V malady

Metabolic diseases, Endocrine diseases, Genetic diseases categories

Summaries for Hyperlipoproteinemia Type V

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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:46 144650

Aliases & Classifications for Hyperlipoproteinemia Type V

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8Disease Ontology, 44Novoseek, 60UMLS, 22GTR, 42NIH Rare Diseases, 48Orphanet, 46OMIM, 56SNOMED-CT, 34MeSH, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

hyperlipoproteinemia type v 8 44 60
familial type 5 hyperlipoproteinemia 8 22
hyperlipoproteinemia type 5 42 48
hyperchylomicronemia with hyperprebetalipoproteinemia, familial 42
hyperlipemia combined fat and carbohydrate-induced 42
familial hyperlipoproteinemia type v 8
hyperchylomicronemia, late-onset 46
hyperchylomicronemia late onset 42
fredrickson type v lipaemia 8
hyperlipidemia type v 42
major hyperlipidemia 48
hyperlipemia mixed 42


External Ids:

Disease Ontology8 DOID:1171
OMIM46 144650
SNOMED-CT via Orphanet57 34349009
SNOMED-CT56 190781009, 34349009
UMLS via Orphanet61 C0020481
MESH via Orphanet35 D006954
ICD10 via Orphanet26 E78.3

Related Diseases for Hyperlipoproteinemia Type V

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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

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46OMIM
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Clinical features from OMIM:

144650

Clinical synopsis from OMIM:

144650

Drugs & Therapeutics for Hyperlipoproteinemia Type V

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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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

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Animal Models for Hyperlipoproteinemia Type V or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hyperlipoproteinemia Type V:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.9GPIHBP1, CREB3L3, LPL, APOA5, APOE

Publications for Hyperlipoproteinemia Type V

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50PubMed
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Articles related to Hyperlipoproteinemia Type V:

idTitleAuthorsYear
1
Isolation and characterization of an apoA-II-containing lipoprotein (LP-A-II:B complex) from plasma very low density lipoproteins of patients with Tangier disease and type V hyperlipoproteinemia. (1901345)
1991
2
Apolipoprotein E allele frequencies in non-insulin-dependent diabetes mellitus with hypertriglyceridemia (type IIb, III, IV, and V hyperlipoproteinemia). (1861626)
1991
3
Cholesterol accumulation in J774 macrophages induced by triglyceride-rich lipoproteins. Comparison of very low density lipoprotein from subjects with type III, IV, and V hyperlipoproteinemias. (1998641)
1991
4
A kindred of familial combined hyperlipidemia (FCHL) with proband showing type V hyperlipoproteinemia. (3773323)
1986
5
Extremity amputation following radial artery cannulation in a patient with hyperlipoproteinemia type V. (7059036)
1982
6
Hyperlipoproteinemia type V and apolipoprotein E4. (6126778)
1982
7
A case of xanthomatosis and hyperlipoproteinemia type V propably induced by overdosage of insulin. (173587)
1975
8
Hyperlipoproteinemia type V: biochemical observations in two cases. (4365209)
1974
9
Hyperlipoproteinemia type V (a case report). (4374435)
1974

Genetic Variations for Hyperlipoproteinemia Type V

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Expression for genes affiliated with Hyperlipoproteinemia Type V

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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

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Sources:
29KEGG, 53Reactome, 37NCBI BioSystems Database, 49PharmGKB
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Compounds for genes affiliated with Hyperlipoproteinemia Type V

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Hyperlipoproteinemia Type V according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1dimyristoylphosphatidylcholine449.8APOA5, APOE
2sele449.8APOE, LPL
3retinyl palmitate44 2410.8LPL, APOE
4intralipid449.8APOE, LPL
5xbai449.8LPL, APOE
6probucol44 1110.8LPL, APOE
7cholesterol ester449.7APOE, LPL
8bezafibrate44 28 1111.7LPL, APOE
9fenofibrate44 49 1111.7LPL, APOA5
10ritonavir44 49 1111.7APOE, LPL
11streptozotocin449.6LPL, APOE
12trioleoylglycerol449.6APOC2, LPL
13fluvastatin44 49 28 1112.5APOE, LPL
14alpha tocopherol449.5LPL, APOE
15dodecylphosphocholine449.5APOE, APOC2
16thioflavin t449.5APOC2, APOE
17betacarotene449.4LPL, APOE
18lovastatin44 49 59 28 1113.2LPL, APOE
19gemfibrozil44 28 1111.0LPL, APOC2, APOE
20sodium dodecylsulfate449.0LPL, APOC2, APOE
21vitamin a44 11 2411.0LPL, APOC2, APOE
22phospholipid448.9LPL, APOC2, APOE
23fatty acid448.9LPL, APOC2, APOA5
24triacylglycerol448.6LPL, APOC2, APOA5, APOE
25heparin44 28 11 2411.6LPL, APOC2, APOA5, APOE
26cholesterol44 28 11 2411.6LPL, APOC2, APOA5, APOE
27lipid448.5LPL, APOC2, APOA5, APOE

GO Terms for genes affiliated with Hyperlipoproteinemia Type V

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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

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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