HLPP5
MCID: HYP286
MIFTS: 45

Hyperchylomicronemia, Late-Onset (HLPP5) malady

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

Aliases & Classifications for Hyperchylomicronemia, Late-Onset

Aliases & Descriptions for Hyperchylomicronemia, Late-Onset:

Name: Hyperchylomicronemia, Late-Onset 54 24 13
Hyperlipoproteinemia Type V 12 50 66 52 42 14 69
Familial Type 5 Hyperlipoproteinemia 12 29
Hyperlipoproteinemia Type 5 50 56
Hyperchylomicronemia with Hyperprebetalipoproteinemia, Familial 50
Hyperlipemia Combined Fat and Carbohydrate-Induced 50
Familial Hyperlipoproteinemia Type V 12
Hyperlipidemia, Familial Combined 69
Hyperchylomicronemia Late Onset 50
Hyperlipoproteinemia, Type V 54
Fredrickson Type V Lipaemia 12
Type V Hyperlipoproteinemia 50
Hyperlipoproteinemia 5 66
Hyperlipidemia Type V 50
Mixed Hyperlipidemia 69
Major Hyperlipidemia 56
Hyperlipemia Mixed 50
Mixed Hyperlipemia 50
Hlpp5 66

Characteristics:

Orphanet epidemiological data:

56
hyperlipoproteinemia type 5
Inheritance: Multigenic/multifactorial;

HPO:

32
hyperchylomicronemia, late-onset:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 144650
Disease Ontology 12 DOID:1171
MeSH 42 D006954
NCIt 47 C35645
SNOMED-CT 64 190781009 34349009
Orphanet 56 ORPHA70470
ICD10 via Orphanet 34 E78.3
MESH via Orphanet 43 D006954
UMLS via Orphanet 70 C0020481
ICD10 33 E78.3
UMLS 69 C0020481

Summaries for Hyperchylomicronemia, Late-Onset

UniProtKB/Swiss-Prot : 66 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 : Hyperchylomicronemia, Late-Onset, also known as hyperlipoproteinemia type v, is related to alport syndrome and thin basement membrane nephropathy and hyperchlorhidrosis, isolated, and has symptoms including hypoalphalipoproteinemia, increased circulating very-low-density lipoprotein cholesterol and hypobetalipoproteinemia. An important gene associated with Hyperchylomicronemia, Late-Onset is APOA5 (Apolipoprotein A5), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Hydroxymethylglutaryl-CoA Reductase Inhibitors and Hypolipidemic Agents have been mentioned in the context of this disorder. Related phenotypes are Decreased free cholesterol and Increased LDL uptake

Description from OMIM: 144650

Related Diseases for Hyperchylomicronemia, Late-Onset

Diseases related to Hyperchylomicronemia, Late-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
id Related Disease Score Top Affiliating Genes
1 alport syndrome and thin basement membrane nephropathy 10.0 APOE LPL
2 hyperchlorhidrosis, isolated 10.0 APOE LPL
3 myxofibrosarcoma 10.0 APOE LPL
4 cataract 20, multiple types 10.0 INS LPL
5 mucopolysaccharidosis iii 10.0 INS LPL
6 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome 9.9 APOE LPL
7 cetp-related hyperalphalipoproteinemia 9.9 APOE INS
8 asphyxia neonatorum 9.9 APOE LPL
9 bird fancier's lung 9.9 APOE LPL
10 primary pigmented nodular adrenocortical disease 9.9 APOE INS
11 mannosidosis, beta 9.9 APOE LPL
12 abducens nerve neoplasm 9.9 APOA5 APOC2 LPL
13 hypertriglyceridemia 9.9 APOE LPL
14 cataract 5, multiple types 9.9 APOE LPL
15 dyserythropoietic anemia, congenital, type ii 9.8 APOC2 APOE
16 skin squamous cell carcinoma 9.8 APOA5 APOE LPL
17 limb ischemia 9.8 APOE INS
18 joint disorders 9.8 APOE INS LPL
19 chondrocalcinosis with early-onset osteoarthritis 9.8 APOE INS LPL
20 tangier disease 9.8
21 xanthomatosis 9.8
22 pericarditis 9.7 APOE INS LPL
23 von willebrand disease, platelet-type 9.7 APOC2 APOE LPL
24 diabetic encephalopathy 9.7 APOE INS
25 bleeding disorder, east texas type 9.6 APOA5 APOE INS LPL
26 lipomatosis 9.6 APOA5 APOE INS LPL
27 pyrimidine metabolic disorder 9.6 APOA5 APOE INS LPL
28 macular degeneration, age-related, 12 9.6 APOA5 APOE INS LPL
29 von hippel-lindau syndrome 9.6 APOA5 APOE INS LPL
30 acute apical periodontitis 9.5 APOC2 APOE INS LPL
31 narcolepsy 6 9.5 APOC2 APOE INS LPL
32 autoimmune-related retinopathy and optic neuropathy 9.5 APOC2 APOE INS LPL
33 maturity-onset diabetes of the young 6 9.5 APOC2 APOE INS LPL
34 immunodeficiency 18 9.4 APOA5 APOC2 APOE INS LPL
35 c1s deficiency 9.2 APOA5 APOC2 APOE CREB3L3 INS LPL

Graphical network of the top 20 diseases related to Hyperchylomicronemia, Late-Onset:



Diseases related to Hyperchylomicronemia, Late-Onset

Symptoms & Phenotypes for Hyperchylomicronemia, Late-Onset

Symptoms by clinical synopsis from OMIM:

144650

Clinical features from OMIM:

144650

Human phenotypes related to Hyperchylomicronemia, Late-Onset:

32
id Description HPO Frequency HPO Source Accession
1 hypoalphalipoproteinemia 32 HP:0003233
2 increased circulating very-low-density lipoprotein cholesterol 32 HP:0003362
3 hypobetalipoproteinemia 32 HP:0003563
4 hyperchylomicronemia 32 HP:0012238

UMLS symptoms related to Hyperchylomicronemia, Late-Onset:


hypertriglyceridemic waist

GenomeRNAi Phenotypes related to Hyperchylomicronemia, Late-Onset according to GeneCards Suite gene sharing:

26
id 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 Hyperchylomicronemia, Late-Onset:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.1 APOA5 APOC2 APOE CREB3L3 INS LPL

Drugs & Therapeutics for Hyperchylomicronemia, Late-Onset

Drugs for Hyperchylomicronemia, Late-Onset (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 76)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
2 Hypolipidemic Agents Phase 4,Phase 3,Phase 2,Phase 1
3 Anticholesteremic Agents Phase 4,Phase 3,Phase 2,Phase 1
4 Lipid Regulating Agents Phase 4,Phase 3,Phase 2,Phase 1
5 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
6 Calcium, Dietary Phase 4,Phase 3,Phase 2,Phase 1
7 Rosuvastatin Calcium Phase 4,Phase 3 147098-20-2
8 Omega 3 Fatty Acid Nutraceutical Phase 4,Phase 2
9
Fenofibrate Approved Phase 3,Phase 2 49562-28-9 3339
10
Ezetimibe Approved Phase 3,Phase 2 163222-33-1 150311
11
Simvastatin Approved Phase 3 79902-63-9 54454
12
Esomeprazole Approved, Investigational Phase 3 161796-78-7, 119141-88-7 4594 9579578
13
Mipomersen Approved Phase 3 1000120-98-8
14
Niacin Approved, Investigational, Nutraceutical Phase 3,Phase 2 59-67-6 938
15
Nicotinamide Approved, Nutraceutical Phase 3,Phase 2 98-92-0 936
16
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
17 Atorvastatin Calcium Phase 3,Phase 2,Phase 1 134523-03-8
18 Nicotinic Acids Phase 3,Phase 2
19 Trace Elements Phase 3,Phase 2
20 Vasodilator Agents Phase 3,Phase 2
21 Vitamin B Complex Phase 3,Phase 2
22 Vitamins Phase 3,Phase 2
23 Immunoglobulins Phase 3,Phase 2
24 Antibodies, Monoclonal Phase 3,Phase 2
25 Antibodies Phase 3,Phase 2
26 Micronutrients Phase 3,Phase 2
27 Bone Density Conservation Agents Phase 3
28
Torcetrapib Phase 3 262352-17-0 159325
29 Folate Nutraceutical Phase 3,Phase 2
30 Vitamin B3 Nutraceutical Phase 3,Phase 2
31 Vitamin B9 Nutraceutical Phase 3,Phase 2
32
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
33
Mycophenolic acid Approved Phase 2 24280-93-1 446541
34
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
35
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
36
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
37
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
38 Chelating Agents Phase 2
39 Prednisolone acetate Phase 2
40 glucocorticoids Phase 2
41 Cholestyramine Resin Phase 2
42 Gastrointestinal Agents Phase 2
43 Neuroprotective Agents Phase 2
44 Dermatologic Agents Phase 2
45 Hormone Antagonists Phase 2
46 Hormones Phase 2
47 Peripheral Nervous System Agents Phase 2
48 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
49 Pharmaceutical Solutions Phase 2
50 Anti-Bacterial Agents Phase 2

Interventional clinical trials:

(show all 34)
id Name Status NCT ID Phase
1 Effect of Rosuvastatin on Triglyceride Levels in Mexican Hypertriglyceridemic Patients Completed NCT00473655 Phase 4
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
4 Lipid Efficacy Study (0524B-022)(COMPLETED) Completed NCT00269217 Phase 3
5 Lipid Efficacy/Tolerability Study (0524A-020) Completed NCT00269204 Phase 3
6 A Study to Evaluate an Investigational Drug in Patients With Mixed Hyperlipidemia (0653A-071)(COMPLETED) Completed NCT00093899 Phase 3
7 Study of Ezetimibe and Fenofibrate in Patients With Mixed Hyperlipidemia (0653-036)(COMPLETED) Completed NCT00092573 Phase 3
8 Two Investigational Drugs in Patients With Mixed Hyperlipidemia (0653-036) Completed NCT00092560 Phase 3
9 Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial Hypercholesterolemia Completed NCT00607373 Phase 3
10 An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 (Mipomersen) in Patients With Familial Hypercholesterolemia or Severe-Hypercholesterolemia Completed NCT00694109 Phase 3
11 Long Term, Follow-on Study of Lomitapide in Patients With Homozygous Familial Hypercholesterolemia Completed NCT00943306 Phase 3
12 A Safety and Efficacy Study of AEGR-733 to Treat Homozygous Familial Hypercholesterolemia (FH) Completed NCT00730236 Phase 3
13 Atorvastatin Three Year Pediatric Study Completed NCT00827606 Phase 3
14 PLUTO: Pediatric Lipid-redUction Trial of rOsuvastatin Completed NCT00355615 Phase 3
15 An Study to Evaluate Rosuvastatin in Children and Adolescents With Familial Hypercholesterolaemia Completed NCT01078675 Phase 3
16 A Clinical Trial to Assess the Long Term Safety and Tolerability of MK-0653C in Japanese Participants With Hypercholesterolemia (MK-0653C-384) Completed NCT02460159 Phase 3
17 Study of Alirocumab (REGN727/SAR236553) in Patients With heFH (Heterozygous Familial Hypercholesterolemia) Who Are Not Adequately Controlled With Their LMT (Lipid-Modifying Therapy) Completed NCT01709500 Phase 3
18 Trial Assessing Efficacy, Safety and Tolerability of PCSK9 Inhibition in Paediatric Subjects With Genetic LDL Disorders Recruiting NCT02392559 Phase 3
19 Open Label Study to Evaluate Safety, Tolerability and Efficacy of Evolocumab (AMG 145) in Pediatric Subjects (10 to 17 Years of Age) With Heterozygous Familial Hypercholesterolemia (HeFH) or Homozygous Familial Hypercholesterolemia (HoFH). Recruiting NCT02624869 Phase 3
20 A Clinical Trial to Assess the Long Term Safety and Tolerability of MK-0653H in Japanese Participants With Hypercholesterolemia (MK-0653H-833) Active, not recruiting NCT02748057 Phase 3
21 Carotid B-mode Ultrasound Study to Compare Anti-Atherosclerotic Effect of Torcetrapib/Atorvastatin to Atorvastatin. Terminated NCT00134238 Phase 3
22 Phase 2 Dose-Ranging Efficacy and Safety Trial of SCH 900271 in Participants With Primary Hypercholesterolemia or Mixed Hyperlipidemia (P05675) Completed NCT00941603 Phase 2
23 A Pilot Study to Evaluate the Lipid Effects of TRIA-662 Completed NCT02008084 Phase 2
24 Study of the Safety and Tolerability Associated With PPD10558 Versus Atorvastatin in Patients Previously Intolerant to Statins Due to Statin-associated Myalgia (SAM) Completed NCT01279590 Phase 2
25 An 8-Week Dose-Finding Study to Evaluate the Efficacy and Safety of Alirocumab in Children and Adolescents With Heterozygous Familial Hypercholesterolemia Recruiting NCT02890992 Phase 2
26 Alipogene Tiparvovec for the Treatment of LPLD Patients Recruiting NCT02904772 Phase 2
27 MK0859 Dose-Ranging Study (0859-003) Terminated NCT00325455 Phase 2
28 8-Week PK/PD Atorvastatin Study In Children And Adolescents With Heterozygous Familial Hypercholesterolemia Completed NCT00739999 Phase 1
29 Comparison of the Efficacy and Safety of AtorVastatin mOnotherapy vs. Combination Atorvastatin/Fenofibric Acid Unknown status NCT01974297
30 Amlodipine/Atorvastatin (Caduet®) Drug Use Investigation (Regulatory Post Marketing Commitment Plan) Completed NCT01107743
31 Effect of Weight Loss on Cholesterol Metabolism in Hereditary Hypercholesterolemias and Overweight or Obesity. Completed NCT01995149
32 Russian Familial Hypercholesterolemia Registry Recruiting NCT02208869
33 Lp(a) and Aortic Valve Calcification Recruiting NCT02976818
34 Effect of Lipoprotein(a) Elimination by Lipoprotein Apheresis on Cardiovascular Outcomes Recruiting NCT02791802

Search NIH Clinical Center for Hyperchylomicronemia, Late-Onset

Cochrane evidence based reviews: hyperlipoproteinemia type v

Genetic Tests for Hyperchylomicronemia, Late-Onset

Genetic tests related to Hyperchylomicronemia, Late-Onset:

id Genetic test Affiliating Genes
1 Familial Type 5 Hyperlipoproteinemia 29
2 Hyperchylomicronemia, Late-Onset 24 APOA5

Anatomical Context for Hyperchylomicronemia, Late-Onset

Publications for Hyperchylomicronemia, Late-Onset

Variations for Hyperchylomicronemia, Late-Onset

ClinVar genetic disease variations for Hyperchylomicronemia, Late-Onset:

6
id 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

Expression for Hyperchylomicronemia, Late-Onset

Search GEO for disease gene expression data for Hyperchylomicronemia, Late-Onset.

Pathways for Hyperchylomicronemia, Late-Onset

Pathways related to Hyperchylomicronemia, Late-Onset according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.36 APOA5 APOC2 APOE CREB3L3 INS LPL
2
Show member pathways
12.96 APOE CREB3L3 INS LPL
3
Show member pathways
12.11 APOC2 APOE LPL
4
Show member pathways
11.89 APOA5 APOC2 APOE CREB3L3 LPL
5
Show member pathways
11.66 APOC2 APOE LPL
6 11.42 INS LPL
7 11.27 INS LPL
8 11.23 APOA5 LPL
9
Show member pathways
10.76 APOA5 APOC2 APOE LPL

GO Terms for Hyperchylomicronemia, Late-Onset

Cellular components related to Hyperchylomicronemia, Late-Onset according to GeneCards Suite gene sharing:

id 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 Hyperchylomicronemia, Late-Onset according to GeneCards Suite gene sharing:

(show all 30)
id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.82 APOC2 APOE LPL
2 cellular protein metabolic process GO:0044267 9.81 APOA5 APOE INS
3 lipid transport GO:0006869 9.77 APOA5 APOC2 APOE
4 retinoid metabolic process GO:0001523 9.7 APOC2 APOE LPL
5 positive regulation of catalytic activity GO:0043085 9.65 APOC2 APOE
6 triglyceride metabolic process GO:0006641 9.65 APOA5 APOE LPL
7 positive regulation of nitric-oxide synthase activity GO:0051000 9.63 APOE INS
8 high-density lipoprotein particle remodeling GO:0034375 9.63 APOC2 APOE
9 triglyceride catabolic process GO:0019433 9.63 APOA5 APOE LPL
10 high-density lipoprotein particle assembly GO:0034380 9.62 APOA5 APOE
11 fatty acid homeostasis GO:0055089 9.62 APOE INS
12 positive regulation of lipid biosynthetic process GO:0046889 9.61 APOE INS
13 positive regulation of fatty acid biosynthetic process GO:0045723 9.61 APOA5 APOC2
14 cholesterol efflux GO:0033344 9.61 APOA5 APOC2 APOE
15 positive regulation of lipoprotein lipase activity GO:0051006 9.59 APOA5 APOC2
16 chylomicron assembly GO:0034378 9.58 APOC2 APOE
17 positive regulation of cholesterol esterification GO:0010873 9.58 APOA5 APOE
18 reverse cholesterol transport GO:0043691 9.58 APOA5 APOC2 APOE
19 high-density lipoprotein particle clearance GO:0034384 9.57 APOC2 APOE
20 positive regulation of triglyceride catabolic process GO:0010898 9.56 APOA5 APOC2
21 cholesterol homeostasis GO:0042632 9.56 APOA5 APOC2 APOE LPL
22 chylomicron remnant clearance GO:0034382 9.55 APOC2 APOE
23 neuron projection regeneration GO:0031102 9.54 APOA5 APOE
24 phospholipid efflux GO:0033700 9.54 APOA5 APOC2 APOE
25 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.51 APOA5 APOC2
26 chylomicron remodeling GO:0034371 9.5 APOC2 APOE LPL
27 positive regulation of very-low-density lipoprotein particle remodeling GO:0010902 9.49 APOA5 APOC2
28 very-low-density lipoprotein particle remodeling GO:0034372 9.33 APOC2 APOE LPL
29 triglyceride homeostasis GO:0070328 9.26 APOA5 APOC2 APOE LPL
30 lipoprotein metabolic process GO:0042157 9.02 APOA5 APOC2 APOE CREB3L3 LPL

Molecular functions related to Hyperchylomicronemia, Late-Onset according to GeneCards Suite gene sharing:

id 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 cholesterol transporter activity GO:0017127 9.32 APOA5 APOE
7 low-density lipoprotein particle receptor binding GO:0050750 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 Hyperchylomicronemia, Late-Onset

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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