HLPP5
MCID: HYP740
MIFTS: 53

Hyperlipoproteinemia, Type V (HLPP5)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hyperlipoproteinemia, Type V

MalaCards integrated aliases for Hyperlipoproteinemia, Type V:

Name: Hyperlipoproteinemia, Type V 57 36
Hyperlipoproteinemia Type V 12 73 20 72 54 44 15 70
Familial Type 5 Hyperlipoproteinemia 12 29 6
Hyperchylomicronemia with Hyperprebetalipoproteinemia, Familial 57 20
Hyperchylomicronemia, Late-Onset 57 13
Hyperlipemia, Combined Fat and Carbohydrate-Induced 57
Hyperlipemia Combined Fat and Carbohydrate-Induced 20
Familial Apolipoprotein a-V Deficiency 58
Familial Apolipoprotein A5 Deficiency 58
Familial Hyperlipoproteinemia Type V 12
Hyperlipidemia, Familial Combined 70
Hyperchylomicronemia Late Onset 20
Hyperlipoproteinemia, Type 5 39
Fredrickson Type V Lipaemia 12
Hyperlipoproteinemia Type 5 20
Type V Hyperlipoproteinemia 20
Familial Apoa5 Deficiency 58
Hyperlipidemia, Type V 57
Hyperlipoproteinemia 5 72
Hyperlipidemia Type V 20
Mixed Hyperlipidemia 70
Hyperlipemia, Mixed 57
Hyperlipemia Mixed 20
Mixed Hyperlipemia 20
Hlpp5 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
hyperlipoproteinemia, type v:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:1171
OMIM® 57 144650
KEGG 36 H00157
MeSH 44 D006954
NCIt 50 C35645
SNOMED-CT 67 34349009
Orphanet 58 ORPHA530849
UMLS 70 C0020474 C0020481 C2047520

Summaries for Hyperlipoproteinemia, Type V

UniProtKB/Swiss-Prot : 72 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 acute pancreatitis, 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 Fenofibrate and Nicotinamide have been mentioned in the context of this disorder. Affiliated tissues include endothelial and heart, and related phenotypes are diabetes mellitus and decreased hdl cholesterol concentration

KEGG : 36 Type V hyperlipoproteinemia is an autosomal recessive disorder caused by deficiency of apolipoprotein A-V and characterized by an increase of chylomicrons and VLDL and a decrease of LDL and HDL in the plasma after a fast.

Wikipedia : 73 Hyperlipidemia is abnormally elevated levels of any or all lipids or lipoproteins in the blood.... more...

More information from OMIM: 144650

Related Diseases for Hyperlipoproteinemia, Type V

Diseases in the Hyperlipoproteinemia, Type I family:

Hyperlipoproteinemia, Type Iv Hyperlipoproteinemia, Type V
Hyperlipoproteinemia, Type Id Hyperlipoproteinemia, Type Iii

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

(show top 50) (show all 114)
# Related Disease Score Top Affiliating Genes
1 xanthomatosis 30.3 LPL HMGCR APOE APOB
2 acute pancreatitis 29.9 LPL INS APOC2
3 pancreatitis 29.8 LPL INS APOC2 APOA5
4 hyperinsulinism 29.6 LPL INS APOB
5 tangier disease 29.6 LPL APOE APOC3 APOB APOA1
6 nephrotic syndrome 29.5 LPL HMGCR APOE APOB APOA1
7 hypercholesterolemia, familial, 1 29.2 LPL INS HMGCR APOE APOB APOA1
8 familial lipoprotein lipase deficiency 29.2 LPL APOE APOC3 APOC2 APOB APOA5
9 atherosclerosis susceptibility 28.9 LPL INS HMGCR APOE APOC3 APOB
10 coronary heart disease 1 28.7 LPL INS HMGCR APOE APOC3 APOB
11 hypertriglyceridemia, familial 28.6 LPL LOC108491825 INS APOE APOC3 APOC2
12 lipid metabolism disorder 28.6 LPL INS HMGCR APOE APOC3 APOB
13 familial hyperlipidemia 28.4 LPL INS HMGCR APOE APOC3 APOC2
14 hyperlipidemia, familial combined, 3 28.4 LPL INS HMGCR APOE APOC3 APOC2
15 type 2 diabetes mellitus 27.4 LPL KL INS HMGCR FGF23 APOE
16 familial apolipoprotein a5 deficiency 11.4
17 apolipoprotein c-ii deficiency 10.3 LPL APOC2
18 xanthoma disseminatum 10.3 APOE APOB
19 hypercholesterolemia, familial, 2 10.3 APOE APOB
20 familial lcat deficiency 10.2 APOE APOA1
21 lipoprotein glomerulopathy 10.2 APOE APOB
22 leukodystrophy, hypomyelinating, 3 10.2 APOB APOA1
23 apolipoprotein c-iii deficiency 10.2 LPL APOC3
24 arcus corneae 10.2 APOB APOA1
25 hypobetalipoproteinemia, familial, 2 10.1 APOC3 APOB
26 parametritis 10.1 APOB APOA1
27 defective apolipoprotein b-100 10.1 HMGCR APOE APOB
28 corneal degeneration 10.1 APOB APOA1
29 aortic atherosclerosis 10.1 LPL APOE APOB
30 cerebral atherosclerosis 10.1 APOE APOB APOA1
31 hepatic lipase deficiency 10.1 LPL APOE APOA1
32 huntington disease-like 1 10.1 APOE APOB APOA1
33 carotid artery disease 10.1 APOE APOB APOA1
34 peripheral artery disease 10.1 APOE APOB APOA1
35 generalized atherosclerosis 10.0 INS APOE APOB
36 peripheral vascular disease 10.0 HMGCR APOB APOA1
37 amyloidosis 10.0 INS APOE APOA1
38 sleep apnea 10.0 INS APOE APOB
39 systemic lupus erythematosus 10.0
40 pre-eclampsia 10.0
41 hypothyroidism 10.0
42 neuritis 10.0
43 hyperuricemia 10.0
44 acromegaly 10.0
45 lupus erythematosus 10.0
46 paresthesia 10.0
47 silent myocardial infarction 10.0 INS APOB APOA1
48 fetal macrosomia 10.0 INS APOB APOA1
49 conjunctival deposit 10.0 KL FGF23
50 intermediate coronary syndrome 10.0 INS APOB APOA1

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


Benign Essential Hypertension Esophagitis
Hypertension, Essential Hypothyroidism
Intermediate Coronary Syndrome 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

Human phenotypes related to Hyperlipoproteinemia, Type V:

31
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 31 HP:0000819
2 decreased hdl cholesterol concentration 31 HP:0003233
3 decreased ldl cholesterol concentration 31 HP:0003563
4 increased vldl cholesterol concentration 31 HP:0003362
5 increased circulating chylomicron concentration 31 HP:0012238

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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 LDL uptake GR00340-A-1 8.32 LPL

MGI Mouse Phenotypes related to Hyperlipoproteinemia, Type V:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 APOA1 APOA5 APOB APOC2 APOE FGF23
2 integument MP:0010771 9.7 APOA1 APOE FGF23 INS KL LPL
3 liver/biliary system MP:0005370 9.5 APOA1 APOB APOE HMGCR INS KL
4 renal/urinary system MP:0005367 9.1 APOE FGF23 INS KL SLC34A2 TRIM21

Drugs & Therapeutics for Hyperlipoproteinemia, Type V

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

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fenofibrate Approved Phase 4 49562-28-9 3339
2
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
3
Lovastatin Approved, Investigational Phase 4 75330-75-5 53232
4
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
5
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
6 Nicotinic Acids Phase 4
7 Vitamin B3 Phase 4
8 Vitamin B9 Phase 4
9 Nutrients Phase 4
10 Trace Elements Phase 4
11 Micronutrients Phase 4
12 Vasodilator Agents Phase 4
13 Vitamins Phase 4
14 Vitamin B Complex Phase 4
15 Folate Phase 4
16 Rosuvastatin Calcium Phase 4 147098-20-2
17 Calcium, Dietary Phase 4
18 Colesevelam Hydrochloride Phase 4
19 Dihydromevinolin Phase 4
20 L 647318 Phase 4
21
Calcium Nutraceutical Phase 4 7440-70-2 271
22
Pravastatin Approved Phase 3 81093-37-0 54687
23
Atorvastatin Approved Phase 3 134523-00-5 60823
24
Torcetrapib Investigational Phase 3 262352-17-0 159325
25
Anacetrapib Investigational Phase 2 875446-37-0
26
Clopidogrel Approved Phase 1 113665-84-2, 120202-66-6 60606
27
Aspirin Approved, Vet_approved Phase 1 50-78-2 2244
28 Neurotransmitter Agents Phase 1
29 Analgesics, Non-Narcotic Phase 1
30 Analgesics Phase 1
31 Fibrinolytic Agents Phase 1
32 Cyclooxygenase Inhibitors Phase 1
33 Antirheumatic Agents Phase 1
34 Purinergic P2Y Receptor Antagonists Phase 1
35 Platelet Aggregation Inhibitors Phase 1
36 Antipyretics Phase 1
37 Anti-Inflammatory Agents Phase 1
38 Anti-Inflammatory Agents, Non-Steroidal Phase 1
39 Fenofibric acid Approved 42017-89-0
40
chenodeoxycholic acid Approved Early Phase 1 474-25-9 10133
41
Mannitol Approved, Investigational Early Phase 1 69-65-8 6251 453
42 Cathartics Early Phase 1
43 Gastrointestinal Agents Early Phase 1
44 Laxatives Early Phase 1

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 Comparison of High-Dose Rosuvastatin Versus Low Statin Dose Plus Fenofibrate Versus Low Statin Dose Plus Niacin in the Treatment of Mixed Hyperlipidemia Unknown status NCT01010516 Phase 4 High-dose rosuvastatin;Statin plus fenofibrate;Statin plus niacin ER/laropiprant
2 The Effect of Fenofibrate on Endothelial Function and HDL in Patients With Coronary Heart Disease and LDL-C at Goal Completed NCT00552747 Phase 4 fenofibrate;placebo
3 A Double-blind, Double Dummy, Phase IV, Randomized, Multicenter, Parallel Group, Placebo Controlled Trial to Evaluate the Effect of Rosuvastatin on Triglycerides Levels in Mexican Hypertriglyceridemic Patients Completed NCT00473655 Phase 4 rosuvastatin
4 The Effects of the Combination of Welchol and Tricor Compared to TriCor Alone in Patients With Mixed Hyperlipidemia Completed NCT00754039 Phase 4 colesevelam HCl tablets and fenofibrate tablets;fenofibrate tablets and Welchol placebo tablets;fenofibrate tablets and Welchol placebo tablets
5 Extended-Release Niacin/Lovastatin Versus Usual Care for Treatment of Dyslipidemia in a Primary Care Setting (EXTEND Study) Completed NCT00345657 Phase 4 Niacin Extended Release/Lovastatin
6 An 8-Week, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Daily Pro-Omega LDL for Low-Density Lipoprotein Cholesterol and Triglyceride Reduction in Subjects With Mixed Hyperlipoproteinemia Withdrawn NCT02069106 Phase 4
7 Efficacy of Ezetimibe/Simvastatin 10/20 mg and MK0524A (1-2 g/Day) in Patients With Mixed Hyperlipidemia and Two or More Risk Factors to Cardiovascular Disease. Withdrawn NCT00738985 Phase 4 ezetimibe/simvastatin 10/20 mg + placebo;ezetimibe/simvastatin 10/20 mg + MK0524A
8 Efficacy and Safety of Fenofibrate Added on to Atorvastatin Compared With Atorvastatin in Mixed Hypercholesterolemic Patient: Multi Center, Randomized, Double-blind, Parallel-group, Therapeutic Confirmatory Study. Unknown status NCT01956201 Phase 3 Atorvastatin 20mg;Fenofibrate 160mg
9 Efficacy and Safety of Co-administration of Omacor Plus Atorvastatin Compared With Atorvastatin Monotherapy in Patients With Type Ⅱb Dyslipidemia: a Multicenter, Double-blind, Randomized, Active-controlled, Parallel, Phase Ⅲ Study Unknown status NCT02035215 Phase 3 Atorvastatin 20mg;Omega-3-acids ethylesters 90 4g
10 Evaluation of the Efficacy and Safety of Fenofibrate and Ezetimibe Coadministration in Patients With Mixed Hyperlipidemia Completed NCT00092560 Phase 3 MK0653, ezetimibe;Comparator: fenofibrate monotherapy
11 A Multicenter, Randomized, Double-Blind, Parallel Group, 12 Week Study to Evaluate the Efficacy and Safety of MK0524B Versus Atorvastatin in Patients With Mixed Hyperlipidemia Completed NCT00289900 Phase 3 MK-0524A;Atorvastatin;Simvastatin
12 A Multicenter, Randomized, Double-Blind, "Factorial" Design Study to Evaluate the Lipid-Altering Efficacy and Safety of Coadministered MK0524B Tablets in Patients With Primary Hypercholesterolemia or Mixed Hyperlipidemia Completed NCT00269217 Phase 3 niacin (+) laropiprant (+) simvastatin;Comparator: niacin (+) laropiprant;Comparator: simvastatin
13 A Worldwide, Multicenter, Double-Blind, Randomized, Parallel, Placebo-Controlled Study to Evaluate the Lipid-Altering Efficacy, Safety and Tolerability of MK0524A in Patients With Primary Hypercholesterolemia or Mixed Hyperlipidemia Completed NCT00269204 Phase 3 niacin (+) laropiprant;ER-niacin
14 Evaluation of the Efficacy and Safety of Fenofibrate and Ezetimibe Coadministration in Patients With Mixed Hyperlipidemia Completed NCT00092573 Phase 3 MK0653, ezetimibe;Comparator: fenofibrate monotherapy
15 A Study to Evaluate the Efficacy and Safety of Ezetimibe/Simvastatin and Fenofibrate Coadministration in Patients With Mixed Hyperlipidemia Completed NCT00093899 Phase 3 ezetimibe (+) simvastatin
16 Multicenter, Randomized, Double-Blind Study to Evaluate the Efficacy and Safety of Ezetimibe/Simvastatin and Niacin (Extended Release Tablet) Co-Administered in Patients With Type IIa or Type IIb Hyperlipidemia Completed NCT00271817 Phase 3 Comparator: ezetimibe/simvastatin + niacin (ER);Comparator: Placebo to ezetimibe/simvastatin;Comparator: niacin (ER) tablet;Comparator: ezetimibe (+) simvastatin;Comparator: Placebo to Niacin (ER);Comparator: ezetimibe/simvastatin and niacin (ER);Comparator: ezetimibe and simvastatin;Comparator: Placebo to niacin (ER)
17 A Multi-Center, Prospective, Longitudinal, Randomized, Double-Blind, Phase III Study to Evaluate the Efficacy and Safety of Daily Administration of Pravastatin 40 mg or Fenofibrate 160 mg or Pravafen (the Combination of Pravastatin and Fenofibrate 40/160 mg) for 12 Weeks Followed by a 52-Week Open-Label Safety Phase of the Pravafen Alone in the Treatment of Combined Hyperlipidemia. Completed NCT00459745 Phase 3 Pravafen;Pravastatin;Fenofibrate
18 Phase 3 Multi-Center, Double-Blind, Randomized, Parallel Group, Forced Titration Study Of The Efficacy, Safety, And Tolerability Of Torcetrapib/Atorvastatin Compared To Fenofibrate In Subjects With Fredrickson Type IIB Dyslipidemia (Mixed Hyperlipidemia Completed NCT00139061 Phase 3 Torcetrapib/Atorvastatin;Fenofibrate
19 A Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Demonstrate the Lipid-Altering Efficacy and Safety and Tolerability of MK0524A in Patients With Primary Hypercholesterolemia or Mixed Hyperlipidemia Completed NCT00536510 Phase 3 laropiprant/niacin (MK0524A);Comparator: placebo
20 A Phase III, Randomized, Double-blind, Placebo-controlled Clinical Study Evaluating the Efficacy and Safety of JS002 in Patients With Primary Hypercholesterolemia and Mixed Hyperlipidemia in China Recruiting NCT04781114 Phase 3 JS002;Placebo
21 Phase 3 Multi-Center, Double-Blind, Randomized, Parallel Group, Carotid B-mode Ultrasound Evaluation of the Anti-Atherosclerotic Efficacy, Safety, and Tolerability of Fixed Combination CP-529,414/Atorvastatin, Administered Orally, Once Daily (QD) for 24 Months, Compared With Atorvastatin Alone, in Subjects With Mixed Hyperlipidemia Terminated NCT00134238 Phase 3 torcetrapib/atorvastatin;atorvastatin
22 A Randomized, Double-blind, Placebo-controlled, Forced Dose-escalation, Multi-center Pilot Study to Evaluate the Lipid Regulating Effects of TRIA-662 (1-methylnicotinamide Chloride) Completed NCT02008084 Phase 2 TRIA-662;Placebo
23 A Phase 2 Randomized, Double-Blind, Dose-Response Efficacy and Safety Study of SCH 900271 Compared to Placebo in Subjects With Primary Hypercholesterolemia (Familial and Nonfamilial) or Mixed Hyperlipidemia Completed NCT00941603 Phase 2 SCH 900271 15mg;SCH 900271;SCH 900271;SCH 900271;SCH 900271;Placebo
24 A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Dose-Ranging Study to Assess the Efficacy, Safety, and Tolerability of MK-0859 in Patients With Primary Hypercholesterolemia or Mixed Hyperlipidemia Terminated NCT00325455 Phase 2 MK0859
25 A Study to Evaluate the Effects of Laropiprant on the Antiplatelet Effects of Clopidogrel and Aspirin in Combination and to Evaluate Single Dose Pharmacokinetics of MK0524A in Subjects With Primary Hypercholesterolemia or Mixed Dyslipidemia Completed NCT01012219 Phase 1 niacin (+) laropiprant;Comparator: aspirin;Comparator: clopidogrel;Comparator: laropiprant;Comparator: placebo
26 A Study of MK0859 in Patients With Primary Hypercholesterolemia or Mixed Hyperlipidemia (MK-0859-011)(COMPLETED) Completed NCT00565292 Phase 1 MK0859
27 Comparison of the Efficacy and AtorVastatin 20mg mOnotherapy Versus Combination Atorvastatin/Fenofibric Acid 10/135mg in the Mixed hyperlipiDemia Who Were Not at Lipid gOals With Atorvastatin 10mg Monotherapy. Unknown status NCT01974297 Atorvastatin 10mg, fenofibric acid 135mg;atorvastatin 20mg
28 Genetic Susceptibility to Common Lipid Disorders in Mexico Completed NCT00365235
29 Genetic Epidemiology of Hypertriglyceridemia Completed NCT00005368
30 Low Carbohydrate Diet - Effect on Plasma Lipids and Metabolic Markers Completed NCT01476436
31 Human Lipoprotein Pathophysiology - Subproject: Genetics of Familial Combined Hyperlipidemia Completed NCT00005313
32 Effects of Activation of the Farnesoid X Receptor (FXR) on Hepatic Lipid and Glucose Metabolism in Patients With the Metabolic Syndrome and Familial Forms of Hypertriglyceridemia Completed NCT00465751 Early Phase 1 chenodeoxycholic acid;placebo capsules
33 Inflammatory Aspects of Glucose in Hyperlipidemia and Diabetes Completed NCT02130505
34 Genomic Dissection of a QTL Affecting the Lipid Profile Withdrawn NCT00064688

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

MalaCards organs/tissues related to Hyperlipoproteinemia, Type V:

40
Endothelial, Heart

Publications for Hyperlipoproteinemia, Type V

Articles related to Hyperlipoproteinemia, Type V:

(show all 29)
# Title Authors PMID Year
1
Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment. 6 57
16200213 2005
2
Two cases with transient lipoprotein lipase (LPL) activity impairment: evidence for the possible involvement of an LPL inhibitor. 57
12655414 2003
3
Apolipoprotein E alleles in severe hypertriglyceridaemia. 57
6130351 1983
4
[The becoming of reactions of lipolysis in phylogenesis. The palmitic and oleic triglycerides as substrates. Insulin, condition of normolipemia and formation of hyper lipoproteinemia type IIb, IV and V]. 61
30550084 2018
5
Effects of ezetimibe and simvastatin on apolipoprotein B metabolism in males with mixed hyperlipidemia. 54
19305020 2009
6
Omega 3 fatty acids induce a marked reduction of apolipoprotein B48 when added to fluvastatin in patients with type 2 diabetes and mixed hyperlipidemia: a preliminary report. 54
19133114 2009
7
Colesevelam: a review of its use in hypercholesterolemia. 54
18076213 2007
8
The effect of apolipoprotein E polymorphism on the response to lipid-lowering treatment with atorvastatin or fenofibrate. 54
17056835 2006
9
Diabetic lipemia with eruptive xanthomatosis in a lean young female with apolipoprotein E4/4. 54
16188578 2005
10
Alcohol and atherosclerotic vascular disease risk factors in French men: relationships are linear, J-shaped, and U-shaped. 54
15654296 2005
11
Treatment with cerivastatin in primary mixed hyperlipidemia induces changes in platelet aggregation and coagulation system components. 54
12416740 2002
12
Effect of pravastatin and omega-3 fatty acids on plasma lipids and lipoproteins in patients with combined hyperlipidemia. 54
8241095 1993
13
[Primary hyperlipoproteinemia type V]. 61
1305725 1992
14
An apolipoprotein CII mutation, CIILys19----Thr' identified in patients with hyperlipidemia. 54
1782747 1991
15
Diagnosis and management of familial dyslipoproteinemia in children and adolescents. 54
2259550 1990
16
Does Dietary Therapy for Hyperlipoproteinemia Type V Predispose to Premature Atherosclerosis? 61
31252976 1990
17
Hypertriglyceridemia--acute pancreatitis--ischemic heart disease. A case study in a pair of monozygotic twins. 61
3591470 1987
18
[Use of entero-and hemosorption in a patients with diabetic xanthomatosis and hyperlipoproteinemia type V]. 61
3821027 1986
19
[Lipoproteins, post-heparin lipoprotein lipase and hepatic triglyceride lipase in patients with and without severe hyperlipemia caused by alcoholism]. 61
4013622 1985
20
[Primary hyperlipoproteinemia type V complicated by acute pancreatitis]. 61
6582226 1983
21
Hyperlipoproteinemia type V and apolipoprotein E4. 61
6126778 1982
22
Extremity amputation following radial artery cannulation in a patient with hyperlipoproteinemia type V. 61
7059036 1982
23
[Pathological values of hyperlipoproteinemia type V]. 61
431952 1979
24
[Hyperlipoproteinemia type V Fredrickson. A rare metabolic disorder, its diagnosis and therapy, as demonstrated on an own case]. 61
190520 1977
25
A case of xanthomatosis and hyperlipoproteinemia type V propably induced by overdosage of insulin. 61
173587 1975
26
[Xanthomatosis eruptiva papulosa (hyperlipoproteinemia type V)]. 61
4464725 1974
27
Hyperlipoproteinemia type V (a case report). 61
4374435 1974
28
[Neuritis hyperplastica xanthomatosa in familial hyperlipoproteinemia type V. Case report with genetic study]. 61
4839743 1974
29
Hyperlipoproteinemia type V: biochemical observations in two cases. 61
4365209 1974

Variations for Hyperlipoproteinemia, Type V

ClinVar genetic disease variations for Hyperlipoproteinemia, Type V:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 APOA5 NM_001371904.1(APOA5):c.415C>T (p.Gln139Ter) SNV Pathogenic 4404 rs121917821 GRCh37: 11:116661530-116661530
GRCh38: 11:116790814-116790814
2 APOA5 NM_001371904.1(APOA5):c.579_592del (p.Tyr194fs) Deletion Pathogenic 995944 GRCh37: 11:116661353-116661366
GRCh38: 11:116790637-116790650
3 APOA5 , LOC108491825 NM_001371904.1(APOA5):c.139C>T (p.Gln47Ter) SNV Pathogenic 1033023 GRCh37: 11:116662324-116662324
GRCh38: 11:116791608-116791608

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:

36
# Name Kegg Source Accession
1 PPAR signaling pathway hsa03320

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 LPL KL INS HMGCR APOE APOC3
2
Show member pathways
12.34 LPL APOE APOC3 APOC2 APOB APOA1
3
Show member pathways
12.04 INS APOE APOB APOA1
4
Show member pathways
12.04 LPL APOE APOC3 APOC2 APOB APOA5
5
Show member pathways
11.96 LPL APOE APOC3 APOC2 APOB APOA1
6 11.79 APOE APOA5 APOA1
7 11.7 SLC34A2 KL FGF23
8
Show member pathways
11.67 APOE APOB APOA1
9 11.5 LPL APOC3 APOA5 APOA1
10 11.47 LPL INS HMGCR
11
Show member pathways
11.3 LPL HMGCR APOE APOC3 APOC2 APOB
12 10.96 APOC3 APOA5 APOA1
13 10.9 APOB APOA1

GO Terms for Hyperlipoproteinemia, Type V

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.18 LPL KL INS FGF23 APOE APOC3
2 extracellular space GO:0005615 10.07 LPL KL INS FGF23 APOE APOC3
3 endoplasmic reticulum lumen GO:0005788 9.91 INS FGF23 APOE APOB APOA5 APOA1
4 early endosome GO:0005769 9.88 APOE APOC3 APOC2 APOB APOA5 APOA1
5 high-density lipoprotein particle GO:0034364 9.72 APOE APOC2 APOB APOA5 APOA1
6 endocytic vesicle lumen GO:0071682 9.67 APOE APOB APOA1
7 low-density lipoprotein particle GO:0034362 9.65 APOE APOC2 APOB APOA5 APOA1
8 spherical high-density lipoprotein particle GO:0034366 9.63 APOC3 APOC2 APOA1
9 intermediate-density lipoprotein particle GO:0034363 9.55 APOE APOC3 APOC2 APOB APOA1
10 endosome lumen GO:0031904 9.52 INS APOB
11 discoidal high-density lipoprotein particle GO:0034365 9.51 APOE APOA1
12 chylomicron GO:0042627 9.5 LPL APOE APOC3 APOC2 APOB APOA5
13 very-low-density lipoprotein particle GO:0034361 9.17 LPL APOE APOC3 APOC2 APOB APOA5

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

(show top 50) (show all 61)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 10.14 LPL HMGCR APOE APOC3 APOC2 APOB
2 post-translational protein modification GO:0043687 10.05 FGF23 APOE APOB APOA5 APOA1
3 cellular protein metabolic process GO:0044267 10.04 SLC34A2 INS FGF23 APOE APOB APOA5
4 lipid transport GO:0006869 9.99 APOE APOC3 APOC2 APOB APOA5 APOA1
5 steroid metabolic process GO:0008202 9.95 HMGCR APOE APOB APOA1
6 lipid catabolic process GO:0016042 9.94 LPL APOC3 APOC2 APOB
7 cholesterol metabolic process GO:0008203 9.93 HMGCR APOE APOB APOA1
8 retinoid metabolic process GO:0001523 9.91 LPL APOE APOC3 APOC2 APOB APOA1
9 receptor-mediated endocytosis GO:0006898 9.9 APOE APOB APOA1
10 regulation of lipid metabolic process GO:0019216 9.88 HMGCR APOA5 APOA1
11 triglyceride metabolic process GO:0006641 9.88 LPL APOE APOC3 APOA5
12 triglyceride catabolic process GO:0019433 9.86 LPL APOC3 APOB APOA5
13 positive regulation of lipid biosynthetic process GO:0046889 9.85 INS APOE APOA5 APOA1
14 lipoprotein metabolic process GO:0042157 9.85 APOE APOC3 APOB APOA5 APOA1
15 intermembrane lipid transfer GO:0120009 9.84 APOE APOB APOA1
16 reverse cholesterol transport GO:0043691 9.84 APOE APOC3 APOC2 APOA1
17 cholesterol biosynthetic process GO:0006695 9.83 HMGCR APOA5 APOA1
18 high-density lipoprotein particle remodeling GO:0034375 9.83 APOE APOC3 APOC2 APOA1
19 negative regulation of protein secretion GO:0050709 9.81 INS HMGCR APOE
20 positive regulation of fatty acid biosynthetic process GO:0045723 9.8 APOC2 APOA5 APOA1
21 high-density lipoprotein particle assembly GO:0034380 9.8 APOE APOA5 APOA1
22 phospholipid efflux GO:0033700 9.8 APOE APOC3 APOC2 APOA5 APOA1
23 positive regulation of lipoprotein lipase activity GO:0051006 9.79 APOC2 APOA5 APOA1
24 high-density lipoprotein particle clearance GO:0034384 9.79 APOE APOC2 APOA1
25 positive regulation of triglyceride catabolic process GO:0010898 9.78 APOC2 APOA5 APOA1
26 chylomicron remnant clearance GO:0034382 9.78 APOE APOC3 APOC2 APOB
27 positive regulation of cholesterol esterification GO:0010873 9.77 APOE APOA5 APOA1
28 chylomicron assembly GO:0034378 9.77 APOE APOC3 APOC2 APOB APOA1
29 regulation of Cdc42 protein signal transduction GO:0032489 9.76 APOE APOC3 APOA1
30 cholesterol homeostasis GO:0042632 9.76 LPL HMGCR APOE APOC3 APOC2 APOB
31 lipoprotein biosynthetic process GO:0042158 9.74 APOE APOB APOA1
32 artery morphogenesis GO:0048844 9.73 APOE APOB
33 positive regulation of nitric-oxide synthase activity GO:0051000 9.73 INS APOE
34 cholesterol efflux GO:0033344 9.73 APOE APOC3 APOC2 APOB APOA5 APOA1
35 cholesterol transport GO:0030301 9.72 APOB APOA1
36 positive regulation of cholesterol efflux GO:0010875 9.72 APOE APOA1
37 phosphatidylcholine metabolic process GO:0046470 9.72 APOA5 APOA1
38 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.72 LPL APOB
39 negative regulation of lipid catabolic process GO:0050995 9.72 INS APOC3
40 very-low-density lipoprotein particle remodeling GO:0034372 9.72 LPL APOE APOC2 APOA5 APOA1
41 fatty acid homeostasis GO:0055089 9.71 INS APOE
42 low-density lipoprotein particle remodeling GO:0034374 9.71 APOE APOB
43 positive regulation of lipid storage GO:0010884 9.71 LPL APOB
44 very-low-density lipoprotein particle assembly GO:0034379 9.71 APOC3 APOB
45 cellular phosphate ion homeostasis GO:0030643 9.7 SLC34A2 FGF23
46 positive regulation of cholesterol storage GO:0010886 9.7 LPL APOB
47 negative regulation of blood vessel diameter GO:0097756 9.7 INS HMGCR
48 negative regulation of receptor-mediated endocytosis GO:0048261 9.7 APOC3 APOC2
49 very-low-density lipoprotein particle clearance GO:0034447 9.69 APOE APOB
50 negative regulation of lipid metabolic process GO:0045833 9.69 APOC3 APOC2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.83 APOE APOC3 APOC2 APOA5 APOA1
2 heparin binding GO:0008201 9.8 LPL APOE APOB APOA5
3 cholesterol binding GO:0015485 9.69 APOC3 APOA5 APOA1
4 lipid transporter activity GO:0005319 9.58 APOE APOB APOA1
5 fibroblast growth factor receptor binding GO:0005104 9.55 KL FGF23
6 heparan sulfate proteoglycan binding GO:0043395 9.54 LPL APOE
7 low-density lipoprotein particle receptor binding GO:0050750 9.54 APOE APOB APOA5
8 lipase binding GO:0035473 9.52 APOB APOA5
9 intermembrane cholesterol transfer activity GO:0120020 9.5 APOE APOB APOA1
10 high-density lipoprotein particle receptor binding GO:0070653 9.48 APOC3 APOA1
11 lipoprotein lipase activator activity GO:0060230 9.46 APOC2 APOA5
12 lipoprotein particle binding GO:0071813 9.43 LPL APOE APOA1
13 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.33 APOE APOA5 APOA1
14 lipase inhibitor activity GO:0055102 9.13 APOC3 APOC2 APOA1
15 phospholipid binding GO:0005543 9.02 APOE APOC3 APOB APOA5 APOA1

Sources for Hyperlipoproteinemia, Type V

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....