MCID: HYP739
MIFTS: 49

Hyperlipoproteinemia, Type Iv

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

Aliases & Classifications for Hyperlipoproteinemia, Type Iv

MalaCards integrated aliases for Hyperlipoproteinemia, Type Iv:

Name: Hyperlipoproteinemia, Type Iv 58
Hyperlipoproteinemia Type Iv 12 77 45 15 74
Familial Hypertriglyceridemia 12 30 6
Hyperlipoproteinemia Type 4 54 30
Fredrickson Type Iv Hyperlipoproteinemia 12
Familial Type Iv Hyperlipoproteinemia 54
Carbohydrate-Inducible Hyperlipemia 58
Carbohydrate Inducible Hyperlipemia 54
Fredrickson Type Iv Lipidaemia 12
Hypertriglyceridemias Familial 56
Fredrickson Type Iv Lipidemia 12
Endogenous Hyperlipidaemia 12
Vldl Hyperlipoproteinemia 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
heterogeneous


HPO:

33
hyperlipoproteinemia, type iv:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:1172
OMIM 58 144600
ICD9CM 36 272.1
MeSH 45 D006953
NCIt 51 C34711
SNOMED-CT 69 34528009
ICD10 34 E78.1
MedGen 43 C0020480
SNOMED-CT via HPO 70 263681008 74728003
UMLS 74 C0020480

Summaries for Hyperlipoproteinemia, Type Iv

MalaCards based summary : Hyperlipoproteinemia, Type Iv, also known as hyperlipoproteinemia type iv, is related to hyperlipoproteinemia, type iii and hyperlipoproteinemia, type v, and has symptoms including hypertriglyceridemic waist An important gene associated with Hyperlipoproteinemia, Type Iv is APOA5 (Apolipoprotein A5), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Metformin and Calcium have been mentioned in the context of this disorder. Affiliated tissues include heart and liver, and related phenotypes are hypertriglyceridemia and glucose intolerance

Wikipedia : 77 Hyperlipidemia is abnormally elevated levels of any or all lipids or lipoproteins in the blood. It is... more...

Description from OMIM: 144600

Related Diseases for Hyperlipoproteinemia, Type Iv

Diseases in the Hyperlipoproteinemia, Type Iii family:

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

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 hyperlipoproteinemia, type iii 32.2 APOA5 APOB LPL
2 hyperlipoproteinemia, type v 31.8 APOA5 APOB APOC2 LPL
3 hypertriglyceridemia, familial 31.6 APOA5 APOB APOC2 APOC3 LIPI LPL
4 familial lipoprotein lipase deficiency 31.0 APOA5 APOC2 APOC3 LPL
5 hyperlipidemia, familial combined 30.5 APOA2 APOA5 APOB APOC2 APOC3 LPL
6 pancreatitis 29.8 APOA5 APOC2 LPL
7 coronary artery anomaly 29.5 APOA5 APOB LPL
8 heart disease 28.9 APOA5 APOB APOC3 LPL
9 coronary heart disease 1 28.4 APOA2 APOA5 APOB APOC3 LPL
10 hypercholesterolemia, familial 27.7 APOA2 APOB APOC2 APOC3 LPL SLC10A2
11 apolipoprotein c-ii deficiency 10.1 APOC2 LPL
12 ischemic heart disease 10.1 APOB LPL
13 lipoprotein glomerulopathy 10.0 APOA2 APOB
14 leukodystrophy, hypomyelinating, 3 10.0 APOA2 APOB
15 glycogen storage disease ia 10.0 APOC2 LPL
16 schnyder corneal dystrophy 10.0 APOA2 APOB
17 xanthomatosis 10.0 APOB LPL
18 acanthosis nigricans 10.0
19 huntington disease-like 3 10.0
20 huntington disease-like 2 10.0
21 chylomicron retention disease 9.9 APOB SLC10A2
22 arcus corneae 9.9 APOA2 APOB
23 abetalipoproteinemia 9.9 APOB LPL
24 steatorrhea 9.9 APOC2 SLC10A2
25 hypolipoproteinemia 9.9 APOA2 APOB LPL
26 tangier disease 9.8 APOA2 APOB LPL
27 arteries, anomalies of 9.7
28 pancytopenia 9.7
29 acute pancreatitis 9.7
30 xanthoma disseminatum 9.7
31 bardet-biedl syndrome 2 9.7 APOC3 LPL
32 hypobetalipoproteinemia, familial, 2 9.7 APOB APOC3 LPL
33 uremia 9.6 APOC3 LPL
34 hyperlipidemia, combined, 1 9.5 APOA5 APOB APOC3 LPL
35 lipid metabolism disorder 9.5 APOA5 APOB APOC3 LPL
36 hypoalphalipoproteinemia, primary 9.4 APOA2 APOB APOC3 LPL
37 hyperalphalipoproteinemia 1 9.4 APOA2 APOB APOC3 LPL
38 familial hyperlipidemia 9.4 APOB APOC2 APOC3 LPL
39 myocardial infarction 9.4 APOA2 APOA5 APOB APOC3
40 body mass index quantitative trait locus 11 9.2 APOA2 APOA5 APOB APOC3 LPL
41 lecithin:cholesterol acyltransferase deficiency 9.1 APOA2 APOB APOC2 APOC3 LPL
42 diabetes mellitus, noninsulin-dependent 9.1 APOA2 APOB APOC2 APOC3 LPL

Comorbidity relations with Hyperlipoproteinemia, Type Iv via Phenotypic Disease Network (PDN): (show all 13)


Acute Pancreatitis Anxiety
Chronic Myocardial Ischemia Esophagitis
First-Degree Atrioventricular Block Heart Disease
Hypertension, Essential Hypothyroidism
Intermediate Coronary Syndrome Ischemic Heart Disease
Mitral Valve Disease Peripheral Vascular Disease
Transient Cerebral Ischemia

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



Diseases related to Hyperlipoproteinemia, Type Iv

Symptoms & Phenotypes for Hyperlipoproteinemia, Type Iv

Human phenotypes related to Hyperlipoproteinemia, Type Iv:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypertriglyceridemia 33 HP:0002155
2 glucose intolerance 33 HP:0001952
3 precocious atherosclerosis 33 HP:0004416
4 hypopituitarism 33 HP:0040075
5 atheroeruptive xanthoma 33 HP:0001039
6 increased vldl cholesterol concentration 33 HP:0003362

Symptoms via clinical synopsis from OMIM:

58
Vascular:
precocious atherosclerosis

Skin:
atheroeruptive xanthoma

Lab:
hyperlipoproteinemia iv
increased plasma vldl
plasma triglycerides persistently increased
plasma cholesterol and phospholipids usually normal

Metabolic:
abnormal glucose tolerance

Misc:
phenotype environmentally influenced, esp. by carbohydrate and ethanol consumption, uremia, hypopituitarism, contraceptive steroids, and glycogen storage disease i

Clinical features from OMIM:

144600

UMLS symptoms related to Hyperlipoproteinemia, Type Iv:


hypertriglyceridemic waist

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.92 APOA5 APOB APOC3 LPL

MGI Mouse Phenotypes related to Hyperlipoproteinemia, Type Iv:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.17 APOA2 APOA5 APOB APOC2 LIPI LPL

Drugs & Therapeutics for Hyperlipoproteinemia, Type Iv

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
3 Clofibric Acid Phase 4 882-09-7
4 Omega 3 Fatty Acid Phase 4
5 Rosuvastatin Calcium Phase 4 147098-20-2
6 Hypolipidemic Agents Phase 4,Phase 3
7 Antimetabolites Phase 4,Phase 3
8 Lipid Regulating Agents Phase 4,Phase 3
9 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3
10 Anticholesteremic Agents Phase 4,Phase 3
11 Calcium, Dietary Phase 4
12
Atorvastatin Approved Phase 3 134523-00-5 60823
13
Torcetrapib Investigational Phase 3 262352-17-0 159325
14
Mannitol Approved, Investigational Early Phase 1 69-65-8 6251 453
15
chenodeoxycholic acid Approved Early Phase 1 474-25-9 10133
16 Laxatives Early Phase 1
17 Cathartics Early Phase 1
18 Gastrointestinal Agents Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Triglyceride Lowering Study Unknown status NCT00934219 Phase 4 Omega-3-Acid Ethyl Esters
2 Effect of Rosuvastatin on Triglyceride Levels in Mexican Hypertriglyceridemic Patients Completed NCT00473655 Phase 4 rosuvastatin
3 A Study Comparing The Efficacy & Safety Of Torcetrapib/Atorvastatin And Atorvastatin In Subjects With High Triglycerides Completed NCT00134498 Phase 3 torcetrapib/atorvastatin;atorvastatin
4 Effects of FXR Activation on Hepatic Lipid and Glucose Metabolism Completed NCT00465751 Early Phase 1 chenodeoxycholic acid;placebo capsules
5 Genetic Epidemiology of Hypertriglyceridemia Completed NCT00005368
6 Effects of Exercise on Fructose-induced Postprandial Lipemia Completed NCT03173495 Not Applicable
7 Milk as a Recovery Beverage After Exercise for Improving Metabolic Health Completed NCT03154216 Not Applicable

Search NIH Clinical Center for Hyperlipoproteinemia, Type Iv

Cochrane evidence based reviews: hyperlipoproteinemia type iv

Genetic Tests for Hyperlipoproteinemia, Type Iv

Genetic tests related to Hyperlipoproteinemia, Type Iv:

# Genetic test Affiliating Genes
1 Familial Hypertriglyceridemia 30 APOA5 LIPI
2 Hyperlipoproteinemia Type 4 30

Anatomical Context for Hyperlipoproteinemia, Type Iv

MalaCards organs/tissues related to Hyperlipoproteinemia, Type Iv:

42
Heart, Liver

Publications for Hyperlipoproteinemia, Type Iv

Articles related to Hyperlipoproteinemia, Type Iv:

# Title Authors Year
1
Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. ( 22962670 )
2012
2
Xanthine oxidase and triglycerides in serum of patients with hyperlipoproteinemia, type IV. ( 6549257 )
1984
3
Acanthosis nigricans. In association with the adrenogenital syndrome, hyperlipoproteinemia type IV, and congenital malformation of the urinary tract. ( 6639119 )
1983
4
The effect of weight reduction on biliary lipid metabolism in patients with hyperlipoproteinemia type IV. ( 7311828 )
1981
5
Effect of bezafibrate on the high-density lipoprotein subfractions HDL2 and HDL3 in primary hyperlipoproteinemia type IV. ( 7236016 )
1980
6
[Study of lipid metabolic coefficient K2 in patients with hyperlipoproteinemia type IV before and after reduction of triglyceride level by adapted diet therapy]. ( 225702 )
1979
7
Hyperlipoproteinemia type IV and pre-beta-lipoprotein. Some new aspects of its physiology, pathogenesis and diagnosis. ( 4344735 )
1972

Variations for Hyperlipoproteinemia, Type Iv

ClinVar genetic disease variations for Hyperlipoproteinemia, Type Iv:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 APOA5 NM_052968.4(APOA5): c.289C> T (p.Gln97Ter) single nucleotide variant Pathogenic rs201079485 GRCh37 Chromosome 11, 116661656: 116661656
2 APOA5 NM_052968.4(APOA5): c.289C> T (p.Gln97Ter) single nucleotide variant Pathogenic rs201079485 GRCh38 Chromosome 11, 116790940: 116790940

Expression for Hyperlipoproteinemia, Type Iv

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

Pathways for Hyperlipoproteinemia, Type Iv

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 APOA2 APOA5 APOB APOC2 APOC3 LIPI
2
Show member pathways
12.33 APOA2 APOB APOC2 APOC3 LPL
3
Show member pathways
12.04 APOA2 APOA5 APOB APOC2 APOC3 LIPI
4
Show member pathways
11.88 APOA2 APOB APOC2 APOC3 LPL
5 11.43 APOA2 APOA5 APOC3 LPL
6
Show member pathways
11.17 APOA2 APOA5 APOB APOC2 APOC3 LPL
7 10.96 APOA2 APOA5 APOC3

GO Terms for Hyperlipoproteinemia, Type Iv

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.95 APOA2 APOA5 APOB APOC2 APOC3 LIPI
2 extracellular space GO:0005615 9.93 APOA2 APOA5 APOB APOC2 APOC3 LPL
3 early endosome GO:0005769 9.73 APOA2 APOB APOC2 APOC3
4 endoplasmic reticulum lumen GO:0005788 9.65 APOA2 APOA5 APOB
5 high-density lipoprotein particle GO:0034364 9.54 APOA2 APOA5 APOC2
6 low-density lipoprotein particle GO:0034362 9.5 APOA5 APOB APOC2
7 spherical high-density lipoprotein particle GO:0034366 9.43 APOA2 APOC2 APOC3
8 chylomicron GO:0042627 9.43 APOA2 APOA5 APOB APOC2 APOC3 LPL
9 intermediate-density lipoprotein particle GO:0034363 9.33 APOB APOC2 APOC3
10 very-low-density lipoprotein particle GO:0034361 9.1 APOA2 APOA5 APOB APOC2 APOC3 LPL

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

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.99 APOB APOC2 APOC3 LIPI LPL
2 lipid transport GO:0006869 9.91 APOA2 APOA5 APOB APOC2 APOC3
3 lipid catabolic process GO:0016042 9.88 APOB APOC2 APOC3 LIPI LPL
4 post-translational protein modification GO:0043687 9.87 APOA2 APOA5 APOB
5 response to drug GO:0042493 9.86 APOA2 APOC2 LPL
6 cellular protein metabolic process GO:0044267 9.86 APOA2 APOA5 APOB
7 retinoid metabolic process GO:0001523 9.85 APOA2 APOB APOC2 APOC3
8 triglyceride metabolic process GO:0006641 9.83 APOA2 APOA5 APOC3 LPL
9 triglyceride homeostasis GO:0070328 9.8 APOA5 APOC2 APOC3 LPL
10 high-density lipoprotein particle remodeling GO:0034375 9.74 APOA2 APOC2 APOC3
11 very-low-density lipoprotein particle remodeling GO:0034372 9.73 APOA5 APOC2 LPL
12 triglyceride catabolic process GO:0019433 9.73 APOA5 APOB APOC3 LPL
13 chylomicron remnant clearance GO:0034382 9.71 APOB APOC2 APOC3
14 lipoprotein metabolic process GO:0042157 9.71 APOA2 APOA5 APOB APOC3
15 cholesterol metabolic process GO:0008203 9.7 APOA2 APOB
16 response to glucose GO:0009749 9.69 APOA2 LPL
17 cholesterol transport GO:0030301 9.68 APOA2 APOB
18 lipoprotein transport GO:0042953 9.68 APOB APOC2
19 negative regulation of lipid catabolic process GO:0050995 9.68 APOA2 APOC3
20 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.67 APOB LPL
21 low-density lipoprotein particle remodeling GO:0034374 9.67 APOA2 APOB
22 positive regulation of fatty acid biosynthetic process GO:0045723 9.67 APOA5 APOC2
23 reverse cholesterol transport GO:0043691 9.67 APOA2 APOA5 APOC2 APOC3
24 high-density lipoprotein particle assembly GO:0034380 9.66 APOA2 APOA5
25 very-low-density lipoprotein particle assembly GO:0034379 9.66 APOB APOC3
26 high-density lipoprotein particle clearance GO:0034384 9.65 APOA2 APOC2
27 positive regulation of cholesterol esterification GO:0010873 9.65 APOA2 APOA5
28 positive regulation of lipoprotein lipase activity GO:0051006 9.65 APOA5 APOC2
29 positive regulation of cholesterol storage GO:0010886 9.64 APOB LPL
30 positive regulation of lipid catabolic process GO:0050996 9.64 APOA2 APOA5
31 positive regulation of triglyceride catabolic process GO:0010898 9.63 APOA5 APOC2
32 negative regulation of receptor-mediated endocytosis GO:0048261 9.63 APOC2 APOC3
33 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.63 APOA2 APOA5 APOC2
34 cholesterol homeostasis GO:0042632 9.63 APOA2 APOA5 APOB APOC2 APOC3 LPL
35 regulation of intestinal cholesterol absorption GO:0030300 9.62 APOA2 APOA5
36 negative regulation of cholesterol transport GO:0032375 9.62 APOA2 APOC2
37 phospholipid efflux GO:0033700 9.62 APOA2 APOA5 APOC2 APOC3
38 negative regulation of lipid metabolic process GO:0045833 9.61 APOC2 APOC3
39 negative regulation of very-low-density lipoprotein particle clearance GO:0010916 9.61 APOC2 APOC3
40 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.6 APOA2 APOC3
41 negative regulation of cholesterol import GO:0060621 9.58 APOA2 APOC3
42 positive regulation of very-low-density lipoprotein particle remodeling GO:0010902 9.58 APOA5 APOC2
43 chylomicron assembly GO:0034378 9.56 APOA2 APOB APOC2 APOC3
44 cholesterol efflux GO:0033344 9.35 APOA2 APOA5 APOB APOC2 APOC3
45 chylomicron remodeling GO:0034371 9.02 APOA2 APOB APOC2 APOC3 LPL

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.62 APOA5 APOB LIPI LPL
2 enzyme activator activity GO:0008047 9.56 APOA5 APOC2
3 phospholipid binding GO:0005543 9.56 APOA2 APOA5 APOB APOC3
4 carboxylic ester hydrolase activity GO:0052689 9.55 LIPI LPL
5 lipid transporter activity GO:0005319 9.54 APOA2 APOB
6 cholesterol binding GO:0015485 9.54 APOA2 APOA5 APOC3
7 phosphatidylcholine binding GO:0031210 9.52 APOA2 APOA5
8 low-density lipoprotein particle receptor binding GO:0050750 9.51 APOA5 APOB
9 phospholipase activity GO:0004620 9.49 LIPI LPL
10 lipase binding GO:0035473 9.48 APOA5 APOB
11 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.46 APOA2 APOA5
12 high-density lipoprotein particle receptor binding GO:0070653 9.43 APOA2 APOC3
13 lipoprotein lipase activator activity GO:0060230 9.4 APOA5 APOC2
14 cholesterol transporter activity GO:0017127 9.33 APOA2 APOA5 APOB
15 lipid binding GO:0008289 9.26 APOA2 APOA5 APOC2 APOC3
16 lipase inhibitor activity GO:0055102 8.8 APOA2 APOC2 APOC3

Sources for Hyperlipoproteinemia, Type Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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