Hyperlipoproteinemia Type V malady

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

Summaries for Hyperlipoproteinemia Type V

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Wikipedia:64 Hyperlipidemia, hyperlipoproteinemia, or hyperlipidaemia (British English) involves abnormally elevated... more...

MalaCards based summary: Hyperlipoproteinemia Type V, also known as familial hyperlipoproteinemia type v, is related to xanthomatosis and tangier disease, and has symptoms including autosomal dominant inheritance, hypoalphalipoproteinemia and increased circulating very-low-density lipoprotein cholesterol. 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:46 144650

Aliases & Classifications for Hyperlipoproteinemia Type V

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9Disease Ontology, 42NIH Rare Diseases, 23GTR, 46OMIM, 44Novoseek, 48Orphanet, 61UMLS, 56SNOMED-CT, 34MeSH, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet, 26ICD10
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Hyperlipoproteinemia Type V, Aliases & Descriptions:

Name: Hyperlipoproteinemia Type V 9 42 44 61
Familial Hyperlipoproteinemia Type V 9 23
Hyperlipoproteinemia Type 5 42 48
Hyperchylomicronemia with Hyperprebetalipoproteinemia, Familial 42
Hyperlipemia Combined Fat and Carbohydrate-Induced 42
Familial Type 5 Hyperlipoproteinaemia 61
Familial Type 5 Hyperlipoproteinemia 9
Hyperchylomicronemia, Late-Onset 46
Hyperchylomicronemia Late Onset 42
Hyperlipoproteinemia, Type V 61
Fredrickson Type V Lipaemia 9
Type V Hyperlipoproteinemia 42
Hyperlipidemia Type V 42
Major Hyperlipidemia 48
Mixed Hyperlipaemia 61
Mixed Hyperlipemia 42
Hyperlipemia Mixed 42


External Ids:

Disease Ontology9 DOID:1171
OMIM46 144650
MESH via Orphanet35 D006954
SNOMED-CT56 190781009, 34349009
ICD10 via Orphanet27 E78.3
UMLS via Orphanet62 C0020481
ICD1026 E78.3

Related Diseases for Hyperlipoproteinemia Type V

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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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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


HPO human phenotypes related to Hyperlipoproteinemia Type V:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hypoalphalipoproteinemia HP:0003233
3 increased circulating very-low-density lipoprotein cholesterol HP:0003362
4 hypobetalipoproteinemia HP:0003563
5 hyperchylomicronemia HP:0012238

Drugs & Therapeutics for Hyperlipoproteinemia Type V

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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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Genetic tests related to Hyperlipoproteinemia Type V:

id Genetic test Affiliating Genes
1 Familial Type 5 Hyperlipoproteinemia23

Anatomical Context for Hyperlipoproteinemia Type V

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Animal Models for Hyperlipoproteinemia Type V or affiliated genes

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MGI Mouse Phenotypes related to Hyperlipoproteinemia Type V:

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

Publications for Hyperlipoproteinemia Type V

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Articles related to Hyperlipoproteinemia Type V:

Extremity amputation following radial artery cannulation in a patient with hyperlipoproteinemia type V. (7059036)
Hyperlipoproteinemia type V and apolipoprotein E4. (6126778)
A case of xanthomatosis and hyperlipoproteinemia type V propably induced by overdosage of insulin. (173587)
Hyperlipoproteinemia type V: biochemical observations in two cases. (4365209)

Variations for Hyperlipoproteinemia Type V

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Clinvar genetic disease variations for Hyperlipoproteinemia Type V:

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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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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Compounds for genes affiliated with Hyperlipoproteinemia Type V

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Compounds related to Hyperlipoproteinemia Type V according to GeneCards/GeneDecks:

(show top 50)    (show all 320)
idCompoundScoreTop Affiliating Genes
1dimyristoylphosphatidylcholine4410.0APOE, APOA5
2sele449.9APOE, LPL
3retinyl palmitate44 2510.9LPL, APOE
4intralipid449.9LPL, APOE
5xbai449.9LPL, APOE
6trioleoylglycerol449.6LPL, APOC2
7TG(18:3(9Z,12Z,15Z)/18:3(9Z,12Z,15Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso3]259.6LPL, APOC2
8TG(18:3(9Z,12Z,15Z)/18:3(9Z,12Z,15Z)/22:5(7Z,10Z,13Z,16Z,19Z))[iso3]259.6APOC2, LPL
9TG(18:3(9Z,12Z,15Z)/18:2(9Z,12Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso6]259.6APOC2, LPL
10TG(18:2(9Z,12Z)/18:2(9Z,12Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso3]259.6APOC2, LPL
11TG(18:2(9Z,12Z)/18:2(9Z,12Z)/22:5(7Z,10Z,13Z,16Z,19Z))[iso3]259.6APOC2, LPL
12TG(18:2(9Z,12Z)/18:2(9Z,12Z)/22:4(7Z,10Z,13Z,16Z))[iso3]259.6APOC2, LPL
13TG(18:2(9Z,12Z)/18:1(11Z)/20:4(5Z,8Z,11Z,14Z))[iso6]259.6APOC2, LPL
14TG(18:2(9Z,12Z)/18:1(11Z)/18:2(9Z,12Z))[iso3]259.6APOC2, LPL
15dodecylphosphocholine449.6APOE, APOC2
16TG(20:4(5Z,8Z,11Z,14Z)/18:1(9Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso6]259.6LPL, APOC2
17thioflavin t449.6APOC2, APOE
18TG(22:6(4Z,7Z,10Z,13Z,16Z,19Z)/20:4(5Z,8Z,11Z,14Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso3]259.6LPL, APOC2
19TG(22:6(4Z,7Z,10Z,13Z,16Z,19Z)/18:3(9Z,12Z,15Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso3]259.5APOC2, LPL
20TG(22:5(7Z,10Z,13Z,16Z,19Z)/18:1(9Z)/22:5(7Z,10Z,13Z,16Z,19Z))[iso3]259.5APOC2, LPL
21fenofibrate44 50 1211.5APOE, LPL, APOA5
22TG(22:5(7Z,10Z,13Z,16Z,19Z)/16:0/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso6]259.5APOC2, LPL
23lovastatin44 50 60 29 1213.5LPL, APOA5, APOE
24TG(22:5(7Z,10Z,13Z,16Z,19Z)/16:0/22:5(7Z,10Z,13Z,16Z,19Z))[iso3]259.5APOC2, LPL
25atorvastatin44 50 29 25 1213.5APOE, APOA5, LPL
26TG(20:4(5Z,8Z,11Z,14Z)/18:2(9Z,12Z)/20:5(5Z,8Z,11Z,14Z,17Z))[iso6]259.5APOC2, LPL
27simvastatin44 50 60 29 25 1214.5APOE, APOA5, LPL
28TG(20:4(5Z,8Z,11Z,14Z)/18:2(9Z,12Z)/18:3(9Z,12Z,15Z))[iso6]259.5APOC2, LPL
29TG(18:2(9Z,12Z)/18:0/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso6]259.5APOC2, LPL
30TG(18:0/16:0/18:3(9Z,12Z,15Z))[iso6]259.5LPL, APOC2
31TG(18:0/16:0/18:1(11Z))[iso6]259.5APOC2, LPL
32TG(16:0/16:0/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso3]259.5APOC2, LPL
33TG(16:0/16:0/18:3(9Z,12Z,15Z))[iso3]259.5APOC2, LPL
34TG(16:0/16:0/18:1(11Z))[iso3]259.4APOC2, LPL
35TG(15:0/18:1(9Z)/16:1(9Z))[iso6]259.4APOC2, LPL
36TG(15:0/18:1(9Z)/16:0)[iso6]259.4APOC2, LPL
37TG(15:0/18:0/18:3(9Z,12Z,15Z))[iso6]259.4APOC2, LPL
38TG(18:0/18:0/18:1(11Z))[iso3]259.3LPL, APOC2
39TG(18:1(9Z)/18:1(9Z)/20:5(5Z,8Z,11Z,14Z,17Z))[iso3]259.3APOC2, LPL
40TG(18:1(9Z)/18:1(9Z)/20:3(8Z,11Z,14Z))[iso3]259.3APOC2, LPL
41TG(18:1(9Z)/18:1(9Z)/20:3(5Z,8Z,11Z))[iso3]259.2APOC2, LPL
42TG(18:1(11Z)/18:0/18:2(9Z,12Z))[iso6]259.2APOC2, LPL
43gemfibrozil29 44 1211.1LPL, APOE, APOC2
44sodium dodecylsulfate449.1LPL, APOC2, APOE
45TG(18:1(9Z)/14:0/18:2(9Z,12Z))[iso6]259.1APOC2, LPL
46vitamin a44 25 1211.1LPL, APOC2, APOE
47TG(18:1(9Z)/14:0/18:1(9Z))[iso3]258.9APOC2, LPL
48triacylglycerol448.7LPL, APOE, APOA5, APOC2
49heparin44 29 25 1211.7APOA5, APOE, LPL, APOC2
50cholesterol44 29 25 1211.7APOC2, APOA5, APOE, LPL

GO Terms for genes affiliated with Hyperlipoproteinemia Type V

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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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Sources for Hyperlipoproteinemia Type V

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27ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet