MCID: HYP031
MIFTS: 49

Hyperlipoproteinemia Type V malady

Genetic diseases, Rare diseases, Endocrine diseases categories
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Summaries for Hyperlipoproteinemia Type V

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65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Hyperlipidemia, hyperlipoproteinemia, or hyperlipidaemia (British English) involves abnormally elevated... more...

MalaCards: Hyperlipoproteinemia Type V, also known as familial hyperlipoproteinemia type v, is related to xanthomatosis and tangier disease. An important gene associated with Hyperlipoproteinemia Type V is APOA5 (apolipoprotein A-V), and among its related pathways are PPAR signaling pathway and Diseases associated with visual transduction. 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

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8Disease Ontology, 43NIH Rare Diseases, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 58SNOMED-CT, 35MeSH, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet
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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 v 8 43 45 62
familial hyperlipoproteinemia type v 8 22
hyperlipoproteinemia type 5 43 49
hyperchylomicronemia with hyperprebetalipoproteinemia, familial 43
hyperlipemia combined fat and carbohydrate-induced 43
familial type 5 hyperlipoproteinemia 8
hyperchylomicronemia, late-onset 47
hyperchylomicronemia late onset 43
fredrickson type v lipaemia 8
type v hyperlipoproteinemia 43
hyperlipidemia type v 43
major hyperlipidemia 49
mixed hyperlipemia 43
hyperlipemia mixed 43


External Ids:

Disease Ontology8 DOID:1171
OMIM47 144650
SNOMED-CT via Orphanet59 34349009
SNOMED-CT58 34349009, 190781009
UMLS via Orphanet63 C0020481
MESH via Orphanet36 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

Symptoms for Hyperlipoproteinemia Type V

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47OMIM
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Symptoms by clinical synopsis from OMIM:

144650

Clinical features from OMIM:

144650

Drugs & Therapeutics for Hyperlipoproteinemia Type V

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Hyperlipoproteinemia Type V

Search NIH Clinical Center 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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37MGI
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MGI Mouse Phenotypes related to Hyperlipoproteinemia Type V:

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

Publications for Hyperlipoproteinemia Type V

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52PubMed
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Articles related to Hyperlipoproteinemia Type V:

idTitleAuthorsYear
1
Extremity amputation following radial artery cannulation in a patient with hyperlipoproteinemia type V. (7059036)
1982
2
Hyperlipoproteinemia type V and apolipoprotein E4. (6126778)
1982
3
A case of xanthomatosis and hyperlipoproteinemia type V propably induced by overdosage of insulin. (173587)
1975
4
Hyperlipoproteinemia type V: biochemical observations in two cases. (4365209)
1974
5
Hyperlipoproteinemia type V (a case report). (4374435)
1974

Variations for Hyperlipoproteinemia Type V

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Hyperlipoproteinemia Type V:

1
id Gene Name Type Significance SNP ID Assembly Location
1APOA5NM_052968.4(APOA5): c.415C> T (p.Gln139Ter)single nucleotide variantPathogenicrs121917821GRCh37Chr 11, 116661530: 116661530

Expression for genes affiliated with Hyperlipoproteinemia Type V

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2BioGPS, 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:
50PathCards, 30KEGG, 38NCBI BioSystems Database, 55Reactome, 51PharmGKB
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Compounds for genes affiliated with Hyperlipoproteinemia Type V

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45Novoseek, 24HMDB, 51PharmGKB, 11DrugBank, 61Tocris Bioscience, 29IUPHAR
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Compounds related to Hyperlipoproteinemia Type V according to GeneCards/GeneDecks:

(show top 50)    (show all 320)
idCompoundScoreTop Affiliating Genes
1dimyristoylphosphatidylcholine4510.0APOE, APOA5
2sele459.9APOE, LPL
3retinyl palmitate45 2410.9LPL, APOE
4intralipid459.9LPL, APOE
5xbai459.9LPL, APOE
6trioleoylglycerol459.6LPL, APOC2
7TG(20:4(5Z,8Z,11Z,14Z)/18:2(9Z,12Z)/18:3(9Z,12Z,15Z))[iso6]249.6LPL, APOC2
8TG(18:3(9Z,12Z,15Z)/18:1(9Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso6]249.6APOC2, LPL
9TG(18:3(9Z,12Z,15Z)/18:1(9Z)/22:5(7Z,10Z,13Z,16Z,19Z))[iso6]249.6APOC2, LPL
10TG(18:3(9Z,12Z,15Z)/18:1(9Z)/20:5(5Z,8Z,11Z,14Z,17Z))[iso6]249.6APOC2, LPL
11TG(18:2(9Z,12Z)/18:2(9Z,12Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso3]249.6APOC2, LPL
12TG(18:2(9Z,12Z)/18:2(9Z,12Z)/22:5(7Z,10Z,13Z,16Z,19Z))[iso3]249.6APOC2, LPL
13TG(18:2(9Z,12Z)/18:2(9Z,12Z)/22:4(7Z,10Z,13Z,16Z))[iso3]249.6APOC2, LPL
14TG(18:2(9Z,12Z)/18:1(9Z)/20:3(8Z,11Z,14Z))[iso6]249.6APOC2, LPL
15dodecylphosphocholine459.6APOE, APOC2
16TG(20:4(5Z,8Z,11Z,14Z)/18:2(9Z,12Z)/20:5(5Z,8Z,11Z,14Z,17Z))[iso6]249.6LPL, APOC2
17thioflavin t459.6APOC2, APOE
18TG(22:6(4Z,7Z,10Z,13Z,16Z,19Z)/20:5(5Z,8Z,11Z,14Z,17Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso3]249.6LPL, APOC2
19TG(22:6(4Z,7Z,10Z,13Z,16Z,19Z)/20:4(5Z,8Z,11Z,14Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso3]249.5APOC2, LPL
20TG(22:6(4Z,7Z,10Z,13Z,16Z,19Z)/18:3(9Z,12Z,15Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso3]249.5APOC2, LPL
21fenofibrate45 51 1111.5APOE, LPL, APOA5
22TG(22:5(7Z,10Z,13Z,16Z,19Z)/18:1(9Z)/22:5(7Z,10Z,13Z,16Z,19Z))[iso3]249.5APOC2, LPL
23lovastatin45 51 61 29 1113.5LPL, APOA5, APOE
24TG(22:5(7Z,10Z,13Z,16Z,19Z)/16:0/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso6]249.5APOC2, LPL
25atorvastatin45 51 29 24 1113.5APOE, APOA5, LPL
26TG(22:5(7Z,10Z,13Z,16Z,19Z)/16:0/22:5(7Z,10Z,13Z,16Z,19Z))[iso3]249.5APOC2, LPL
27simvastatin45 51 61 29 24 1114.5APOE, APOA5, LPL
28TG(20:4(5Z,8Z,11Z,14Z)/18:2(9Z,12Z)/22:5(7Z,10Z,13Z,16Z,19Z))[iso6]249.5APOC2, LPL
29TG(18:2(9Z,12Z)/18:1(9Z)/20:2(11Z,14Z))[iso6]249.5APOC2, LPL
30TG(18:1(11Z)/14:0/18:1(9Z))[iso6]249.5LPL, APOC2
31TG(18:1(11Z)/14:0/18:1(11Z))[iso3]249.5APOC2, LPL
32TG(16:1(9Z)/14:0/18:1(11Z))[iso6]249.5APOC2, LPL
33TG(16:1(9Z)/14:0/16:1(9Z))[iso3]249.5APOC2, LPL
34TG(16:0/16:0/18:3(9Z,12Z,15Z))[iso3]249.4APOC2, LPL
35TG(15:0/18:2(9Z,12Z)/18:2(9Z,12Z))[iso3]249.4APOC2, LPL
36TG(15:0/18:2(9Z,12Z)/16:0)[iso6]249.4APOC2, LPL
37TG(15:0/18:1(9Z)/18:3(9Z,12Z,15Z))[iso6]249.4APOC2, LPL
38TG(18:1(9Z)/14:0/18:2(9Z,12Z))[iso6]249.3LPL, APOC2
39TG(18:2(9Z,12Z)/18:1(9Z)/18:3(9Z,12Z,15Z))[iso6]249.3APOC2, LPL
40TG(18:1(9Z)/18:1(9Z)/20:3(8Z,11Z,14Z))[iso3]249.3APOC2, LPL
41TG(18:1(9Z)/18:1(9Z)/20:3(5Z,8Z,11Z))[iso3]249.2APOC2, LPL
42TG(18:1(9Z)/14:0/20:4(5Z,8Z,11Z,14Z))[iso6]249.2APOC2, LPL
43gemfibrozil29 45 1111.1LPL, APOE, APOC2
44sodium dodecylsulfate459.1LPL, APOC2, APOE
45TG(18:1(9Z)/18:1(9Z)/20:2(11Z,14Z))[iso3]249.1APOC2, LPL
46vitamin a45 24 1111.1LPL, APOC2, APOE
47TG(18:1(9Z)/16:0/18:3(9Z,12Z,15Z))[iso6]248.9APOC2, LPL
48triacylglycerol458.7LPL, APOE, APOA5, APOC2
49heparin45 29 24 1111.7APOA5, APOE, LPL, APOC2
50cholesterol45 29 24 1111.7APOC2, APOA5, APOE, LPL

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:0343648.9GPIHBP1, APOE, APOA5
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
5lipid transportGO:0068699.4APOA5, GPIHBP1
6positive regulation of triglyceride catabolic processGO:0108989.4APOA5, APOC2
7positive regulation of fatty acid biosynthetic processGO:0457239.4APOC2, APOA5
8triglyceride metabolic processGO:0066419.4LPL, APOA5, APOE
9high-density lipoprotein particle clearanceGO:0343849.4APOE, APOC2
10chylomicron remnant clearanceGO:0343829.3APOE, APOC2
11phospholipid effluxGO:0337009.2APOE, APOC2
12reverse cholesterol transportGO:0436919.2APOC2, APOE
13cholesterol effluxGO:0333449.0APOE, APOC2
14very-low-density lipoprotein particle remodelingGO:0343729.0APOE, APOC2, LPL
15retinoid metabolic processGO:0015239.0LPL, APOC2, APOE
16positive regulation of lipoprotein lipase activityGO:0510068.9APOC2, APOA5, GPIHBP1
17phototransduction, visible lightGO:0076038.9LPL, APOC2, APOE
18lipoprotein metabolic processGO:0421578.6APOE, APOA5, APOC2, LPL
19triglyceride homeostasisGO:0703288.5LPL, APOC2, APOA5, GPIHBP1
20cholesterol homeostasisGO:0426328.4APOC2, APOA5, APOE, GPIHBP1
21small molecule metabolic processGO:0442818.0LPL, APOC2, APOA5, APOE

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1phospholipid bindingGO:0055439.5APOA5, APOE
2lipase bindingGO:0354739.4GPIHBP1, APOA5
3lipoprotein particle bindingGO:0718139.4GPIHBP1, APOE
4lipoprotein lipase activator activityGO:0602309.4APOC2, APOA5
5low-density lipoprotein particle receptor bindingGO:0507509.2APOA5, APOE
6heparin bindingGO:0082019.0LPL, APOA5, APOE
7lipid bindingGO:0082898.2APOC2, APOA5, APOE, GPIHBP1

Products for genes affiliated with Hyperlipoproteinemia Type V

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  • Antibodies
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Sources for Hyperlipoproteinemia Type V

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet