MCID: HYP740
MIFTS: 48

Hyperlipoproteinemia, Type V

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Endocrine diseases

Aliases & Classifications for Hyperlipoproteinemia, Type V

MalaCards integrated aliases for Hyperlipoproteinemia, Type V:

Name: Hyperlipoproteinemia, Type V 57 37
Hyperlipoproteinemia Type V 12 76 53 75 55 44 15 73
Familial Type 5 Hyperlipoproteinemia 12 29 6
Hyperchylomicronemia with Hyperprebetalipoproteinemia, Familial 57 53
Hyperchylomicronemia, Late-Onset 57 13
Hyperlipoproteinemia Type 5 53 59
Hyperlipemia, Combined Fat and Carbohydrate-Induced 57
Hyperlipemia Combined Fat and Carbohydrate-Induced 53
Familial Hyperlipoproteinemia Type V 12
Hyperlipidemia, Familial Combined 73
Hyperchylomicronemia Late Onset 53
Hyperlipoproteinemia, Type 5 40
Fredrickson Type V Lipaemia 12
Type V Hyperlipoproteinemia 53
Hyperlipidemia, Type V 57
Hyperlipoproteinemia 5 75
Hyperlipidemia Type V 53
Major Hyperlipidemia 59
Mixed Hyperlipidemia 73
Hyperlipemia, Mixed 57
Hyperlipemia Mixed 53
Mixed Hyperlipemia 53
Hlp Type 5 59
Hlpp5 75

Characteristics:

Orphanet epidemiological data:

59
hyperlipoproteinemia type 5
Inheritance: Multigenic/multifactorial;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hyperlipoproteinemia, type v:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 144650
Disease Ontology 12 DOID:1171
MeSH 44 D006954
NCIt 50 C35645
SNOMED-CT 68 190781009 34349009
Orphanet 59 ORPHA70470
ICD10 via Orphanet 34 E78.3
MESH via Orphanet 45 D006954
UMLS via Orphanet 74 C0020481
KEGG 37 H00157
SNOMED-CT via HPO 69 263681008 190785000 190786004

Summaries for Hyperlipoproteinemia, Type V

UniProtKB/Swiss-Prot : 75 Hyperlipoproteinemia 5: Characterized by increased amounts of chylomicrons and very low density lipoprotein (VLDL) and decreased low density lipoprotein (LDL) and high density lipoprotein (HDL) in the plasma after a fast. Numerous conditions cause this phenotype, including insulin-dependent diabetes mellitus, contraceptive steroids, alcohol abuse, and glycogen storage disease type 1A (GSD1A).

MalaCards based summary : Hyperlipoproteinemia, Type V, also known as hyperlipoproteinemia type v, is related to xanthomatosis and tangier disease, and has symptoms including hypertriglyceridemic waist An important gene associated with Hyperlipoproteinemia, Type V is APOA5 (Apolipoprotein A5), and among its related pathways/superpathways are PPAR signaling pathway and Metabolism. The drugs Anticholesteremic Agents and Antimetabolites have been mentioned in the context of this disorder. Related phenotypes are decreased hdl cholesterol concentration and Increased circulating very-low-density lipoprotein levels

Wikipedia : 76 Hyperlipidemia is abnormally elevated levels of any or all lipids or lipoproteins in the blood. It is... more...

Description from OMIM: 144650

Related Diseases for Hyperlipoproteinemia, Type V

Diseases in the Hyperlipoproteinemia, Type Iii family:

Hyperlipoproteinemia, Type Iv Hyperlipoproteinemia, Type V
Hyperlipoproteinemia, Type I Hyperlipoproteinemia, Type Id

Diseases related to Hyperlipoproteinemia, Type V via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 xanthomatosis 29.3 APOE LPL
2 tangier disease 29.2 APOE LPL
3 hyperlipidemia, familial combined 28.8 APOA5 APOE LPL
4 diabetes mellitus, noninsulin-dependent 27.4 APOC2 APOE INS LPL
5 hyperlipidemia, combined, 1 10.2 APOA5 LPL
6 apolipoprotein c-ii deficiency 10.0 APOC2 LPL
7 uremia 9.9 INS LPL
8 acanthosis nigricans 9.9
9 hyperandrogenism 9.9
10 morbid obesity 9.8 INS LPL
11 glucose intolerance 9.8 INS LPL
12 hepatic lipase deficiency 9.7 APOE LPL
13 recurrent acute pancreatitis 9.7 APOE LPL
14 homozygous familial hypercholesterolemia 9.7 APOE LPL
15 hypolipoproteinemia 9.7 APOE LPL
16 hyperalphalipoproteinemia 1 9.7 APOE LPL
17 abetalipoproteinemia 9.6 APOE LPL
18 gallbladder disease 9.6 APOE INS
19 acute pancreatitis 9.6 APOC2 LPL
20 sleep apnea 9.6 APOE INS
21 familial lipoprotein lipase deficiency 9.6 APOA5 APOC2 LPL
22 pancreatitis 9.5 APOA5 APOC2 LPL
23 arteries, anomalies of 9.5 APOE INS
24 hyperlipoproteinemia, type iii 9.3 APOA5 APOE LPL
25 ischemic heart disease 9.2 APOE INS LPL
26 vascular disease 9.1 APOE INS LPL
27 lecithin:cholesterol acyltransferase deficiency 9.0 APOC2 APOE LPL
28 atherosclerosis susceptibility 9.0 APOE INS
29 hypertriglyceridemia, familial 9.0 APOA5 APOC2 INS LPL
30 myocardial infarction 8.7 APOA5 APOE INS
31 coronary heart disease 1 8.7 APOA5 APOE INS LPL
32 lipid metabolism disorder 8.7 APOA5 APOE INS LPL
33 coronary artery anomaly 8.7 APOA5 APOE INS LPL
34 body mass index quantitative trait locus 11 8.7 APOA5 APOE INS LPL
35 heart disease 8.7 APOA5 APOE INS LPL
36 hyperlipoproteinemia, type iv 8.6 APOA5 APOC2 APOE LPL
37 familial hyperlipidemia 8.5 APOC2 APOE INS LPL
38 hypercholesterolemia, familial 8.5 APOC2 APOE INS LPL

Comorbidity relations with Hyperlipoproteinemia, Type V via Phenotypic Disease Network (PDN):


Benign Essential Hypertension Chronic Myocardial Ischemia
Esophagitis Hypertension, Essential
Hypothyroidism Intermediate Coronary Syndrome
Ischemic Heart Disease Mitral Valve Disease
Peripheral Vascular Disease

Graphical network of the top 20 diseases related to Hyperlipoproteinemia, Type V:



Diseases related to Hyperlipoproteinemia, Type V

Symptoms & Phenotypes for Hyperlipoproteinemia, Type V

Symptoms via clinical synopsis from OMIM:

57
Misc:
multiple causes, including insulin-dependent diabetes mellitus, contraceptive steroids, alcohol abuse, and glycogen storage disease i

Lab:
hyperlipoproteinemia v
increased chylomicrons and vldl
decreased ldl and hdl


Clinical features from OMIM:

144650

Human phenotypes related to Hyperlipoproteinemia, Type V:

32
# Description HPO Frequency HPO Source Accession
1 decreased hdl cholesterol concentration 32 HP:0003233
2 Increased circulating very-low-density lipoprotein levels 32 HP:0003362
3 decreased ldl cholesterol conncentration 32 HP:0003563
4 increased circulating chylomicron concentration 32 HP:0012238

UMLS symptoms related to Hyperlipoproteinemia, Type V:


hypertriglyceridemic waist

GenomeRNAi Phenotypes related to Hyperlipoproteinemia, Type V according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.13 APOA5 APOE LPL
2 Increased LDL uptake GR00340-A-1 8.62 APOE LPL

MGI Mouse Phenotypes related to Hyperlipoproteinemia, Type V:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.1 APOA5 APOC2 APOE CREB3L3 INS LPL

Drugs & Therapeutics for Hyperlipoproteinemia, Type V

Drugs for Hyperlipoproteinemia, Type V (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anticholesteremic Agents Phase 4,Phase 3,Phase 2,Not Applicable
2 Antimetabolites Phase 4,Phase 3,Phase 2,Not Applicable
3 Calcium, Dietary Phase 4,Phase 3,Not Applicable
4 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3,Not Applicable
5 Hypolipidemic Agents Phase 4,Phase 3,Phase 2,Not Applicable
6 Lipid Regulating Agents Phase 4,Phase 3,Phase 2,Not Applicable
7 Rosuvastatin Calcium Phase 4 147098-20-2
8
Fenofibrate Approved Phase 3,Not Applicable 49562-28-9 3339
9
Simvastatin Approved Phase 3 79902-63-9 54454
10
Ezetimibe Approved Phase 3 163222-33-1 150311
11
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
12
Nicotinamide Approved, Investigational, Nutraceutical Phase 3 98-92-0 936
13
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
14
Torcetrapib Investigational Phase 3 262352-17-0 159325
15 Atorvastatin Calcium Phase 3,Not Applicable 134523-03-8
16 Nicotinic Acids Phase 3
17 Micronutrients Phase 3
18 Trace Elements Phase 3
19 Vasodilator Agents Phase 3
20 Vitamin B Complex Phase 3
21 Vitamins Phase 3
22 Vitamin B3 Nutraceutical Phase 3
23 Folate Nutraceutical Phase 3
24 Vitamin B9 Nutraceutical Phase 3
25
Anacetrapib Investigational Phase 2 875446-37-0
26 Fenofibric acid Approved Not Applicable 42017-89-0

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Effect of Rosuvastatin on Triglyceride Levels in Mexican Hypertriglyceridemic Patients Completed NCT00473655 Phase 4 rosuvastatin
2 Efficacy Study of Daily Pro-Omega LDL for Low-Density Lipoprotein Cholesterol and Triglyceride Reduction Withdrawn NCT02069106 Phase 4
3 Lipid Efficacy and Safety in Participants With Mixed Hyperlipidemia (MK-0524B-024) Completed NCT00289900 Phase 3 MK-0524A;Atorvastatin;Simvastatin
4 Lipid Efficacy Study (0524B-022)(COMPLETED) Completed NCT00269217 Phase 3 niacin (+) laropiprant (+) simvastatin;Comparator: niacin (+) laropiprant;Comparator: simvastatin
5 Lipid Efficacy/Tolerability Study (0524A-020) Completed NCT00269204 Phase 3 niacin (+) laropiprant;ER-niacin
6 A Study to Evaluate an Investigational Drug in Patients With Mixed Hyperlipidemia (0653A-071)(COMPLETED) Completed NCT00093899 Phase 3 ezetimibe (+) simvastatin
7 Study of Ezetimibe and Fenofibrate in Patients With Mixed Hyperlipidemia (0653-036)(COMPLETED) Completed NCT00092573 Phase 3 MK0653, ezetimibe;Comparator: fenofibrate monotherapy
8 Two Investigational Drugs in Patients With Mixed Hyperlipidemia (0653-036) Completed NCT00092560 Phase 3 MK0653, ezetimibe;Comparator: fenofibrate monotherapy
9 Carotid B-mode Ultrasound Study to Compare Anti-Atherosclerotic Effect of Torcetrapib/Atorvastatin to Atorvastatin. Terminated NCT00134238 Phase 3 torcetrapib/atorvastatin;atorvastatin
10 A Pilot Study to Evaluate the Lipid Effects of TRIA-662 Completed NCT02008084 Phase 2 TRIA-662;Placebo
11 Phase 2 Dose-Ranging Efficacy and Safety Trial of SCH 900271 in Participants With Primary Hypercholesterolemia or Mixed Hyperlipidemia (P05675) Completed NCT00941603 Phase 2 SCH 900271 15mg;SCH 900271;SCH 900271;SCH 900271;SCH 900271;Placebo
12 MK0859 Dose-Ranging Study (0859-003) Terminated NCT00325455 Phase 2 MK0859
13 Comparison of the Efficacy and Safety of AtorVastatin mOnotherapy vs. Combination Atorvastatin/Fenofibric Acid Unknown status NCT01974297 Not Applicable Atorvastatin 10mg, fenofibric acid 135mg;atorvastatin 20mg

Search NIH Clinical Center for Hyperlipoproteinemia, Type V

Cochrane evidence based reviews: hyperlipoproteinemia type v

Genetic Tests for Hyperlipoproteinemia, Type V

Genetic tests related to Hyperlipoproteinemia, Type V:

# Genetic test Affiliating Genes
1 Familial Type 5 Hyperlipoproteinemia 29 APOA5

Anatomical Context for Hyperlipoproteinemia, Type V

Publications for Hyperlipoproteinemia, Type V

Articles related to Hyperlipoproteinemia, Type V:

# Title Authors Year
1
Hyperlipoproteinemia type V and apolipoprotein E4. ( 6126778 )
1982
2
Extremity amputation following radial artery cannulation in a patient with hyperlipoproteinemia type V. ( 7059036 )
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

ClinVar genetic disease variations for Hyperlipoproteinemia, Type V:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 APOA5 NM_052968.4(APOA5): c.415C> T (p.Gln139Ter) single nucleotide variant Pathogenic rs121917821 GRCh37 Chromosome 11, 116661530: 116661530
2 APOA5 NM_052968.4(APOA5): c.415C> T (p.Gln139Ter) single nucleotide variant Pathogenic rs121917821 GRCh38 Chromosome 11, 116790814: 116790814

Expression for Hyperlipoproteinemia, Type V

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

Pathways for Hyperlipoproteinemia, Type V

Pathways related to Hyperlipoproteinemia, Type V according to KEGG:

37
# Name Kegg Source Accession
1 PPAR signaling pathway hsa03320

Pathways related to Hyperlipoproteinemia, Type V according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.37 APOA5 APOC2 APOE CREB3L3 INS LPL
2
Show member pathways
12.1 APOC2 APOE LPL
3
Show member pathways
11.66 APOC2 APOE LPL
4
Show member pathways
11.56 APOA5 APOC2 APOE CREB3L3 LPL
5
Show member pathways
11.47 CREB3L3 INS
6
Show member pathways
11.33 APOA5 APOC2 APOE LPL
7 11.27 INS LPL
8 11.23 APOA5 LPL

GO Terms for Hyperlipoproteinemia, Type V

Cellular components related to Hyperlipoproteinemia, Type V according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.83 APOA5 APOC2 APOE INS LPL
2 extracellular space GO:0005615 9.77 APOA5 APOC2 APOE INS LPL
3 endoplasmic reticulum lumen GO:0005788 9.58 APOA5 APOE INS
4 high-density lipoprotein particle GO:0034364 9.43 APOA5 APOC2 APOE
5 low-density lipoprotein particle GO:0034362 9.33 APOA5 APOC2 APOE
6 intermediate-density lipoprotein particle GO:0034363 9.32 APOC2 APOE
7 very-low-density lipoprotein particle GO:0034361 9.26 APOA5 APOC2 APOE LPL
8 chylomicron GO:0042627 8.92 APOA5 APOC2 APOE LPL

Biological processes related to Hyperlipoproteinemia, Type V according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.83 APOC2 APOE LPL
2 cellular protein metabolic process GO:0044267 9.82 APOA5 APOE INS
3 lipid transport GO:0006869 9.79 APOA5 APOC2 APOE
4 retinoid metabolic process GO:0001523 9.7 APOC2 APOE LPL
5 positive regulation of catalytic activity GO:0043085 9.66 APOC2 APOE
6 response to glucose GO:0009749 9.65 INS LPL
7 cholesterol biosynthetic process GO:0006695 9.65 APOA5 APOE
8 lipoprotein metabolic process GO:0042157 9.65 APOA5 APOE
9 triglyceride metabolic process GO:0006641 9.65 APOA5 APOE LPL
10 positive regulation of nitric-oxide synthase activity GO:0051000 9.64 APOE INS
11 high-density lipoprotein particle remodeling GO:0034375 9.63 APOC2 APOE
12 fatty acid homeostasis GO:0055089 9.63 APOE INS
13 triglyceride catabolic process GO:0019433 9.63 APOA5 APOE LPL
14 high-density lipoprotein particle assembly GO:0034380 9.62 APOA5 APOE
15 positive regulation of fatty acid biosynthetic process GO:0045723 9.62 APOA5 APOC2
16 positive regulation of lipoprotein lipase activity GO:0051006 9.61 APOA5 APOC2
17 cholesterol efflux GO:0033344 9.61 APOA5 APOC2 APOE
18 chylomicron assembly GO:0034378 9.6 APOC2 APOE
19 positive regulation of cholesterol esterification GO:0010873 9.59 APOA5 APOE
20 high-density lipoprotein particle clearance GO:0034384 9.58 APOC2 APOE
21 positive regulation of triglyceride catabolic process GO:0010898 9.58 APOA5 APOC2
22 reverse cholesterol transport GO:0043691 9.58 APOA5 APOC2 APOE
23 neuron projection regeneration GO:0031102 9.57 APOA5 APOE
24 chylomicron remnant clearance GO:0034382 9.56 APOC2 APOE
25 cholesterol homeostasis GO:0042632 9.56 APOA5 APOC2 APOE LPL
26 regulation of cholesterol transport GO:0032374 9.55 APOA5 APOE
27 positive regulation of dendritic spine maintenance GO:1902952 9.54 APOE INS
28 positive regulation of lipid biosynthetic process GO:0046889 9.54 APOA5 APOE INS
29 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.51 APOA5 APOC2
30 phospholipid efflux GO:0033700 9.5 APOA5 APOC2 APOE
31 positive regulation of very-low-density lipoprotein particle remodeling GO:0010902 9.49 APOA5 APOC2
32 chylomicron remodeling GO:0034371 9.33 APOC2 APOE LPL
33 triglyceride homeostasis GO:0070328 9.26 APOA5 APOC2 APOE LPL
34 very-low-density lipoprotein particle remodeling GO:0034372 8.92 APOA5 APOC2 APOE LPL

Molecular functions related to Hyperlipoproteinemia, Type V according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.54 APOA5 APOC2 APOE
2 phospholipid binding GO:0005543 9.46 APOA5 APOE
3 enzyme activator activity GO:0008047 9.43 APOA5 APOC2
4 cholesterol binding GO:0015485 9.4 APOA5 APOE
5 heparin binding GO:0008201 9.33 APOA5 APOE LPL
6 low-density lipoprotein particle receptor binding GO:0050750 9.32 APOA5 APOE
7 cholesterol transporter activity GO:0017127 9.26 APOA5 APOE
8 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 8.96 APOA5 APOE
9 lipoprotein lipase activator activity GO:0060230 8.62 APOA5 APOC2

Sources for Hyperlipoproteinemia, Type V

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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