MCID: HYP739
MIFTS: 50

Hyperlipoproteinemia, Type Iv

Categories: Rare diseases, Metabolic diseases, Genetic diseases, Endocrine 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
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
Hyperlipoproteinemia Type 4 53
Endogenous Hyperlipidaemia 12
Vldl Hyperlipoproteinemia 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
heterogeneous


HPO:

32
hyperlipoproteinemia, type iv:
Inheritance autosomal dominant inheritance heterogeneous


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
MedGen 42 C0020480
SNOMED-CT via HPO 69 263681008
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 v and pancreatitis, 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 Clofibric Acid have been mentioned in the context of this disorder. Related phenotypes are atheroeruptive xanthoma and abnormal glucose tolerance

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 top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 hyperlipoproteinemia, type v 31.7 APOA5 APOC2 APOE LPL
2 pancreatitis 30.1 APOA5 APOC2 LPL
3 hyperlipoproteinemia, type iii 30.0 APOA1 APOA5 APOB APOE LIPC LPL
4 xanthoma disseminatum 29.9 APOB APOE
5 hypertriglyceridemia, familial 29.7 APOA1 APOA5 APOB APOC2 APOC3 LIPC
6 hyperlipidemia, familial combined 29.5 APOA1 APOA2 APOA5 APOB APOC3 APOE
7 arteries, anomalies of 28.6 APOA1 APOB APOE SERPINE1
8 hypolipoproteinemia 28.3 APOA1 APOA2 APOB APOE LPL
9 heart disease 27.7 APOA1 APOA5 APOB APOC3 APOE LPL
10 hypercholesterolemia, familial 25.9 APOA1 APOA2 APOB APOC2 APOC3 APOE
11 coronary heart disease 1 25.1 APOA1 APOA2 APOA5 APOB APOC3 APOE
12 coronary artery anomaly 25.1 APOA1 APOA2 APOA5 APOB APOC3 APOE
13 apolipoprotein c-ii deficiency 10.5 APOC2 LPL
14 fish-eye disease 10.4 APOA1 APOA2
15 hereditary amyloidosis 10.3 APOA1 APOA2
16 fetal macrosomia 10.3 APOA1 APOB
17 hypercholesterolemia, autosomal dominant, type b 10.3 APOB APOE
18 cerebral atherosclerosis 10.2 APOA1 APOE
19 defective apolipoprotein b-100 10.2 APOB APOE
20 lipase deficiency, combined 10.2 LIPC LPL
21 vitamin e, familial isolated deficiency of 10.2 APOA1 APOB
22 chylomicron retention disease 10.2 APOA1 APOB SLC10A2
23 recurrent acute pancreatitis 10.2 APOE LPL
24 bardet-biedl syndrome 2 10.1 APOA1 APOC3 LPL
25 dysbaric osteonecrosis 10.0 APOA1 APOB SERPINE1
26 hypobetalipoproteinemia, familial, 1 10.0 APOA1 APOB APOE
27 carotid artery disease 10.0 APOA1 APOB APOE
28 familial lcat deficiency 10.0 APOA1 APOA2 APOE
29 xanthomatosis 10.0 APOB APOE LPL
30 gallbladder disease 10.0 APOA1 APOB APOE
31 peripheral vascular disease 10.0 APOA1 APOB SERPINE1
32 lipoprotein glomerulopathy 9.9 APOA2 APOB APOE
33 schnyder corneal dystrophy 9.9 APOA2 APOB APOE
34 acanthosis nigricans 9.8
35 glycogen storage disease 9.8
36 neuropathy, hereditary sensory and autonomic, type iia 9.8 APOB ELP1
37 steatorrhea 9.8 APOC2 SLC10A2
38 ischemic heart disease 9.7 APOA1 APOB APOE LPL
39 abetalipoproteinemia 9.7 APOA1 APOB APOE LPL
40 familial lipoprotein lipase deficiency 9.7 APOA5 APOC2 LIPC LPL
41 pancytopenia 9.6
42 acute pancreatitis 9.6
43 hypertension, essential 9.6 APOA1 APOB LPL SERPINE1
44 leukodystrophy, hypomyelinating, 3 9.6 APOA1 APOA2 APOB APOE
45 arcus corneae 9.6 APOA1 APOA2 APOB APOE
46 coronary stenosis 9.4 APOA1 APOB APOE SERPINE1
47 atherosclerosis susceptibility 9.4 APOA1 APOB APOE SERPINE1
48 hepatic lipase deficiency 9.4 APOA1 APOE LIPC LPL
49 arteriosclerosis 9.4 APOA1 APOB APOE SERPINE1
50 cerebrovascular disease 9.4 APOA1 APOB APOE SERPINE1

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
# Description HPO Frequency HPO Source Accession
1 atheroeruptive xanthoma 32 HP:0001039
2 abnormal glucose tolerance 32 HP:0001952
3 hypertriglyceridemia 32 HP:0002155
4 Increased circulating very-low-density lipoprotein levels 32 HP:0003362
5 precocious atherosclerosis 32 HP:0004416

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 9.5 APOB APOC3 APOE LIPC LPL APOA1
2 Increased LDL uptake GR00340-A-1 8.8 APOE LPL APOA1

MGI Mouse Phenotypes related to Hyperlipoproteinemia, Type Iv:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.93 APOA2 APOA5 APOB APOC2 APOE ELP1
2 integument MP:0010771 9.43 APOE ELP1 LIPI LPL SERPINE1 APOA1
3 liver/biliary system MP:0005370 9.17 APOB APOE LIPI LPL SERPINE1 SLC10A2

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 Clofibric Acid Phase 4 882-09-7
3 Anticholesteremic Agents Phase 4,Phase 3
4 Antimetabolites Phase 4,Phase 3
5 Calcium, Dietary Phase 4,Phase 3
6 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3
7 Hypolipidemic Agents Phase 4,Phase 3
8 Lipid Regulating Agents Phase 4,Phase 3
9 Rosuvastatin Calcium Phase 4 147098-20-2
10 Omega 3 Fatty Acid Nutraceutical Phase 4
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 Cathartics Early Phase 1
16 Gastrointestinal Agents Early Phase 1
17 Laxatives 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

Anatomical Context for Hyperlipoproteinemia, Type Iv

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:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.78 APOA1 APOA2 APOA5 APOB APOC2 APOC3
2
Show member pathways
12.47 APOA1 APOA2 APOB APOC2 APOC3 APOE
3
Show member pathways
12.19 APOA1 APOA2 APOA5 APOB APOC2 APOC3
4
Show member pathways
12.07 APOA1 APOB APOE SERPINE1
5
Show member pathways
12.03 APOA1 APOA2 APOB APOC2 APOC3 APOE
6 11.76 APOA1 APOA5 APOE
7
Show member pathways
11.65 APOA1 APOB APOE
8 11.51 APOA1 APOA2 APOA5 APOC3 LPL
9
Show member pathways
11.35 APOA1 APOA2 APOA5 APOB APOC2 APOC3
10 11.08 APOA1 APOA2 APOA5 APOC3
11 10.89 APOA1 APOB
12 10.77 APOA1 APOA2

GO Terms for Hyperlipoproteinemia, Type Iv

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.95 APOA1 APOA2 APOA5 APOB APOE LIPC
2 early endosome GO:0005769 9.93 APOA1 APOA2 APOB APOC2 APOC3 APOE
3 extracellular matrix GO:0031012 9.91 APOA1 APOC3 APOE LPL SERPINE1
4 blood microparticle GO:0072562 9.84 APOA1 APOA2 APOA5 APOE
5 high-density lipoprotein particle GO:0034364 9.73 APOA1 APOA2 APOA5 APOC2 APOE LIPC
6 low-density lipoprotein particle GO:0034362 9.72 APOA1 APOA5 APOB APOC2 APOE
7 endocytic vesicle lumen GO:0071682 9.67 APOA1 APOB APOE
8 spherical high-density lipoprotein particle GO:0034366 9.67 APOA1 APOA2 APOC2 APOC3
9 clathrin-coated endocytic vesicle membrane GO:0030669 9.56 APOB APOE
10 very-low-density lipoprotein particle GO:0034361 9.56 APOA1 APOA2 APOA5 APOB APOC2 APOC3
11 intermediate-density lipoprotein particle GO:0034363 9.55 APOA1 APOB APOC2 APOC3 APOE
12 discoidal high-density lipoprotein particle GO:0034365 9.52 APOA1 APOE
13 chylomicron GO:0042627 9.23 APOA1 APOA2 APOA5 APOB APOC2 APOC3
14 extracellular exosome GO:0070062 10.15 APOA1 APOA2 APOB APOC2 APOC3 APOE
15 extracellular region GO:0005576 10.14 APOA1 APOA2 APOA5 APOB APOC2 APOC3
16 extracellular space GO:0005615 10.13 APOA1 APOA2 APOA5 APOB APOC2 APOC3

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

(show top 50) (show all 66)
# Name GO ID Score Top Affiliating Genes
1 lipoprotein metabolic process GO:0042157 9.99 APOA1 APOA2 APOA5 APOB APOC3 APOE
2 cholesterol efflux GO:0033344 9.98 APOA1 APOA2 APOA5 APOB APOC2 APOC3
3 triglyceride metabolic process GO:0006641 9.95 APOA2 APOA5 APOC3 APOE LPL
4 high-density lipoprotein particle remodeling GO:0034375 9.95 APOA1 APOA2 APOC2 APOC3 APOE LIPC
5 triglyceride homeostasis GO:0070328 9.95 APOA1 APOA5 APOC2 APOC3 APOE LIPC
6 cholesterol transport GO:0030301 9.92 APOA1 APOA2 APOB LIPC
7 chylomicron remnant clearance GO:0034382 9.92 APOB APOC2 APOC3 APOE LIPC
8 receptor-mediated endocytosis GO:0006898 9.91 APOA1 APOB APOE
9 triglyceride catabolic process GO:0019433 9.91 APOA1 APOA5 APOB APOC3 APOE LIPC
10 steroid metabolic process GO:0008202 9.9 APOA1 APOB APOE
11 high-density lipoprotein particle assembly GO:0034380 9.9 APOA1 APOA2 APOA5 APOE
12 regulation of lipid metabolic process GO:0019216 9.89 APOA1 APOA2 APOA5
13 positive regulation of catalytic activity GO:0043085 9.89 APOA2 APOC2 APOE
14 low-density lipoprotein particle remodeling GO:0034374 9.89 APOA2 APOB APOE LIPC
15 positive regulation of cholesterol esterification GO:0010873 9.87 APOA1 APOA2 APOA5 APOE
16 reverse cholesterol transport GO:0043691 9.87 APOA1 APOA2 APOA5 APOC2 APOC3 APOE
17 cholesterol biosynthetic process GO:0006695 9.86 APOA1 APOA5 APOE
18 high-density lipoprotein particle clearance GO:0034384 9.86 APOA1 APOA2 APOC2 APOE
19 positive regulation of lipid biosynthetic process GO:0046889 9.84 APOA1 APOA5 APOE
20 positive regulation of fatty acid biosynthetic process GO:0045723 9.83 APOA1 APOA5 APOC2
21 positive regulation of lipoprotein lipase activity GO:0051006 9.83 APOA1 APOA5 APOC2
22 positive regulation of triglyceride catabolic process GO:0010898 9.83 APOA1 APOA5 APOC2
23 neuron projection regeneration GO:0031102 9.82 APOA1 APOA5 APOE
24 regulation of cholesterol transport GO:0032374 9.82 APOA1 APOA5 APOE
25 regulation of Cdc42 protein signal transduction GO:0032489 9.81 APOA1 APOC3 APOE
26 lipoprotein biosynthetic process GO:0042158 9.81 APOA1 APOB APOE
27 regulation of intestinal cholesterol absorption GO:0030300 9.8 APOA1 APOA2 APOA5
28 chylomicron remodeling GO:0034371 9.8 APOA1 APOA2 APOB APOC2 APOC3 APOE
29 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.79 APOA1 APOA2 APOC3
30 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.78 APOA2 APOA5 APOC2
31 phosphatidylcholine biosynthetic process GO:0006656 9.74 APOA1 APOA2
32 artery morphogenesis GO:0048844 9.73 APOB APOE
33 positive regulation of receptor-mediated endocytosis GO:0048260 9.73 APOA5 SERPINE1
34 negative regulation of lipid catabolic process GO:0050995 9.73 APOA2 APOC3
35 lipoprotein transport GO:0042953 9.73 APOB APOC2
36 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.73 APOB LPL
37 negative regulation of blood coagulation GO:0030195 9.72 APOE SERPINE1
38 phosphatidylcholine metabolic process GO:0046470 9.72 APOA1 APOA5
39 very-low-density lipoprotein particle assembly GO:0034379 9.71 APOB APOC3
40 regulation of lipoprotein lipase activity GO:0051004 9.71 LIPC LPL
41 positive regulation of cholesterol storage GO:0010886 9.71 APOB LPL
42 negative regulation of receptor-mediated endocytosis GO:0048261 9.71 APOC2 APOC3
43 peptidyl-methionine modification GO:0018206 9.71 APOA1 APOA2
44 negative regulation of cytokine secretion involved in immune response GO:0002740 9.7 APOA1 APOA2
45 positive regulation of lipid catabolic process GO:0050996 9.7 APOA2 APOA5
46 very-low-density lipoprotein particle clearance GO:0034447 9.7 APOB APOE
47 negative regulation of lipase activity GO:0060192 9.7 APOA1 APOA2
48 negative regulation of very-low-density lipoprotein particle clearance GO:0010916 9.69 APOC2 APOC3
49 negative regulation of lipid metabolic process GO:0045833 9.69 APOC2 APOC3
50 lipoprotein catabolic process GO:0042159 9.69 APOB APOE

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.91 APOA1 APOA2 APOA5 APOB APOC2 APOC3
2 heparin binding GO:0008201 9.88 APOA5 APOB APOE LIPC LIPI LPL
3 lipid transporter activity GO:0005319 9.76 APOA1 APOA2 APOB APOE
4 phospholipid binding GO:0005543 9.73 APOA1 APOA2 APOA5 APOB APOC3 APOE
5 carboxylic ester hydrolase activity GO:0052689 9.72 LIPC LIPI LPL
6 cholesterol binding GO:0015485 9.72 APOA1 APOA2 APOA5 APOC3 APOE
7 phosphatidylcholine binding GO:0031210 9.69 APOA1 APOA2 APOA5
8 low-density lipoprotein particle receptor binding GO:0050750 9.67 APOA5 APOB APOE
9 phospholipase activity GO:0004620 9.65 LIPC LIPI LPL
10 high-density lipoprotein particle receptor binding GO:0070653 9.61 APOA1 APOA2 APOC3
11 triglyceride lipase activity GO:0004806 9.59 LIPC LPL
12 apolipoprotein binding GO:0034185 9.58 LIPC LPL
13 high-density lipoprotein particle binding GO:0008035 9.58 APOA1 APOA2
14 lipoprotein particle binding GO:0071813 9.57 APOA1 APOE
15 lipase binding GO:0035473 9.56 APOA5 APOB
16 apolipoprotein receptor binding GO:0034190 9.54 APOA1 APOA2
17 lipoprotein lipase activator activity GO:0060230 9.52 APOA5 APOC2
18 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.46 APOA1 APOA2 APOA5 APOE
19 lipase inhibitor activity GO:0055102 9.26 APOA1 APOA2 APOC2 APOC3
20 cholesterol transporter activity GO:0017127 9.02 APOA1 APOA2 APOA5 APOB APOE

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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