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 57
Hyperlipoproteinemia Type Iv 12 76 44 15 73
Familial Hypertriglyceridemia 12 29
Hyperlipoproteinemia Type 4 53 29
Fredrickson Type Iv Hyperlipoproteinemia 12
Familial Type Iv Hyperlipoproteinemia 53
Carbohydrate-Inducible Hyperlipemia 57
Carbohydrate Inducible Hyperlipemia 53
Fredrickson Type Iv Lipidaemia 12
Hypertriglyceridemias Familial 55
Fredrickson Type Iv Lipidemia 12
Endogenous Hyperlipidaemia 12
Vldl Hyperlipoproteinemia 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
heterogeneous


HPO:

32
hyperlipoproteinemia, type iv:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 144600
Disease Ontology 12 DOID:1172
ICD10 33 E78.1
ICD9CM 35 272.1
MeSH 44 D006953
NCIt 50 C34711
SNOMED-CT 68 34528009
MedGen 42 C0020480
SNOMED-CT via HPO 69 263681008 74728003
UMLS 73 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 hypertriglyceridemia, familial, 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 Omega 3 Fatty Acid have been mentioned in the context of this disorder. Affiliated tissues include liver and heart, and related phenotypes are hypertriglyceridemia and precocious atherosclerosis

Wikipedia : 76 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 43)
# Related Disease Score Top Affiliating Genes
1 hyperlipoproteinemia, type iii 32.1 LPL APOB APOA5
2 hypertriglyceridemia, familial 32.1 LPL LIPI APOC3 APOC2 APOB APOA5
3 hyperlipoproteinemia, type v 31.7 LPL APOC2 APOB APOA5
4 familial lipoprotein lipase deficiency 31.2 LPL APOC3 APOC2 APOA5
5 hyperlipidemia, familial combined 31.0 LPL APOC3 APOC2 APOB APOA5 APOA2
6 pancreatitis 29.7 LPL APOC2 APOA5
7 coronary artery anomaly 29.6 LPL APOB APOA5
8 heart disease 29.3 LPL APOC3 APOB APOA5
9 coronary heart disease 1 29.0 LPL APOC3 APOB APOA5 APOA2
10 hypercholesterolemia, familial 28.4 SLC10A2 LPL APOC3 APOC2 APOB APOA2
11 ischemic heart disease 10.1 LPL APOB
12 lipoprotein glomerulopathy 10.0 APOB APOA2
13 leukodystrophy, hypomyelinating, 3 10.0 APOB APOA2
14 schnyder corneal dystrophy 10.0 APOB APOA2
15 xanthomatosis 10.0 LPL APOB
16 chylomicron retention disease 10.0 SLC10A2 APOB
17 acanthosis nigricans 10.0
18 arcus corneae 10.0 APOB APOA2
19 apolipoprotein c-ii deficiency 9.9 LPL APOC2
20 abetalipoproteinemia 9.9 LPL APOB
21 hypolipoproteinemia 9.9 LPL APOB APOA2
22 glycogen storage disease ia 9.9 LPL APOC2
23 bardet-biedl syndrome 2 9.9 LPL APOC3
24 tangier disease 9.9 LPL APOB APOA2
25 hypobetalipoproteinemia, familial, 2 9.9 LPL APOC3 APOB
26 steatorrhea 9.8 SLC10A2 APOC2
27 uremia 9.8 LPL APOC3
28 arteries, anomalies of 9.8
29 hypertriglyceridemia, transient infantile 9.8
30 familial partial lipodystrophy 9.8
31 pancytopenia 9.8
32 acute pancreatitis 9.8
33 xanthoma disseminatum 9.8
34 hyperlipidemia, combined, 1 9.8 LPL APOC3 APOB APOA5
35 lipid metabolism disorder 9.7 LPL APOC3 APOB APOA5
36 maturity-onset diabetes of the young 9.7 LPL APOC3 APOC2
37 hypoalphalipoproteinemia, primary 9.7 LPL APOC3 APOB APOA2
38 hyperalphalipoproteinemia 1 9.7 LPL APOC3 APOB APOA2
39 myocardial infarction 9.7 APOC3 APOB APOA5 APOA2
40 familial hyperlipidemia 9.6 LPL APOC3 APOC2 APOB
41 body mass index quantitative trait locus 11 9.5 LPL APOC3 APOB APOA5 APOA2
42 lecithin:cholesterol acyltransferase deficiency 9.4 LPL APOC3 APOC2 APOB APOA2
43 diabetes mellitus, noninsulin-dependent 9.4 LPL APOC3 APOC2 APOB APOA2

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Hyperlipoproteinemia, Type Iv:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypertriglyceridemia 32 HP:0002155
2 precocious atherosclerosis 32 HP:0004416
3 hypopituitarism 32 HP:0040075
4 abnormal glucose tolerance 32 HP:0001952
5 atheroeruptive xanthoma 32 HP:0001039
6 increased vldl cholesterol concentration 32 HP:0003362

UMLS symptoms related to Hyperlipoproteinemia, Type Iv:


hypertriglyceridemic waist

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

26
# 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:

46
# 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 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2 Omega 3 Fatty Acid Phase 4
3 Clofibric Acid Phase 4 882-09-7
4 Calcium, Dietary Phase 4,Phase 3
5 Anticholesteremic Agents Phase 4,Phase 3
6 Antimetabolites Phase 4,Phase 3
7 Lipid Regulating Agents Phase 4,Phase 3
8 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3
9 Hypolipidemic Agents Phase 4,Phase 3
10 Rosuvastatin Calcium Phase 4 147098-20-2
11
Torcetrapib Investigational Phase 3 262352-17-0 159325
12 Atorvastatin Calcium Phase 3 134523-03-8
13
chenodeoxycholic acid Approved Early Phase 1 474-25-9 10133
14
Mannitol Approved, Investigational Early Phase 1 69-65-8 453 6251
15 Laxatives Early Phase 1
16 Gastrointestinal Agents Early Phase 1
17 Cathartics 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 Recruiting 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 29 APOA5 LIPI
2 Hyperlipoproteinemia Type 4 29

Anatomical Context for Hyperlipoproteinemia, Type Iv

MalaCards organs/tissues related to Hyperlipoproteinemia, Type Iv:

41
Liver, Heart

Publications for Hyperlipoproteinemia, Type Iv

Articles related to Hyperlipoproteinemia, Type Iv:

# Title Authors Year
1
Xanthine oxidase and triglycerides in serum of patients with hyperlipoproteinemia, type IV. ( 6549257 )
1984
2
Acanthosis nigricans. In association with the adrenogenital syndrome, hyperlipoproteinemia type IV, and congenital malformation of the urinary tract. ( 6639119 )
1983
3
The effect of weight reduction on biliary lipid metabolism in patients with hyperlipoproteinemia type IV. ( 7311828 )
1981
4
Effect of bezafibrate on the high-density lipoprotein subfractions HDL2 and HDL3 in primary hyperlipoproteinemia type IV. ( 7236016 )
1980
5
[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
6
Hyperlipoproteinemia type IV and pre-beta-lipoprotein. Some new aspects of its physiology, pathogenesis and diagnosis. ( 4344735 )
1972

Variations for Hyperlipoproteinemia, Type Iv

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
13.64 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 lipid binding GO:0008289 9.35 APOA2 APOA5 APOB APOC2 APOC3
15 cholesterol transporter activity GO:0017127 9.33 APOA2 APOA5 APOB
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 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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