MCID: HYP286
MIFTS: 43

Hyperchylomicronemia, Late-Onset

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

Aliases & Classifications for Hyperchylomicronemia, Late-Onset

MalaCards integrated aliases for Hyperchylomicronemia, Late-Onset:

Name: Hyperchylomicronemia, Late-Onset 54 24 13
Hyperlipoproteinemia Type V 12 50 71 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
Fredrickson Type V Lipaemia 12
Type V Hyperlipoproteinemia 50
Hyperlipoproteinemia 5 71
Hyperlipidemia Type V 50
Mixed Hyperlipidemia 69
Major Hyperlipidemia 56
Hyperlipemia Mixed 50
Mixed Hyperlipemia 50
Hlpp5 71

Characteristics:

Orphanet epidemiological data:

56
hyperlipoproteinemia type 5
Inheritance: Multigenic/multifactorial;

OMIM:

54
Inheritance:
autosomal dominant


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
MESH via Orphanet 43 D006954
UMLS via Orphanet 70 C0020481
ICD10 via Orphanet 34 E78.3
ICD10 33 E78.3
UMLS 69 C0020481

Summaries for Hyperchylomicronemia, Late-Onset

UniProtKB/Swiss-Prot : 71 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 intramuscular hemangioma and mucolipidoses, and has symptoms including hypobetalipoproteinemia, hypoalphalipoproteinemia and hyperchylomicronemia. 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 Anticholesteremic Agents and Antimetabolites 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 37)
id Related Disease Score Top Affiliating Genes
1 intramuscular hemangioma 10.0 INS LPL
2 mucolipidoses 10.0 INS LPL
3 amelogenesis imperfecta, type iia3 9.9 APOE LPL
4 cataract, autosomal dominant congenital 4 9.9 APOE INS
5 cirrhotic cardiomyopathy 9.9 APOE LPL
6 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 9.8 APOE LPL
7 tropical calcific pancreatitis 9.8 APOC2 LPL
8 islet cell tumor 9.8 APOE LPL
9 bird fancier's lung 9.8 APOE LPL
10 short bowel syndrome 9.8 INS LPL
11 malignant fibrous histiocytoma of bone 9.8 APOE LPL
12 pontocerebellar hypoplasia 9.8 APOE INS
13 apolipoprotein c-iii deficiency 9.8 APOE LPL
14 wolfram syndrome 2 9.8 APOE LPL
15 tangier disease 9.8
16 xanthomatosis 9.8
17 lissencephaly 6, with microcephaly 9.8 APOE LPL
18 diabetic encephalopathy 9.7 APOE INS
19 periampullary adenoma 9.7 APOE INS
20 abducens nerve neoplasm 9.7 APOA5 APOC2 LPL
21 atypical polypoid adenomyoma 9.7 APOA5 APOC2 LPL
22 alzheimer disease-2 9.5 APOA5 APOE LPL
23 hyperlipidemia, familial combined 9.5 APOA5 APOE LPL
24 peripheral artery disease 9.5 APOA5 APOE INS
25 cryoglobulinemia 9.4 APOC2 LPL
26 chondrocalcinosis with early-onset osteoarthritis 9.4 APOE INS LPL
27 pericarditis 9.3 APOE INS LPL
28 fish-eye disease 9.3 APOC2 APOE LPL
29 xanthogranulomatous pyelonephritis 9.2 APOA5 APOE INS
30 myocardial infarction 9.0 APOA5 APOE INS
31 skin squamous cell carcinoma 9.0 APOA5 APOE INS LPL
32 macular degeneration, age-related, 12 9.0 APOA5 APOE INS LPL
33 von hippel-lindau syndrome 8.9 APOA5 APOE INS LPL
34 acute apical periodontitis 8.8 APOC2 APOE INS LPL
35 codas syndrome 8.8 APOC2 APOE INS LPL
36 maturity-onset diabetes of the young 6 8.7 APOC2 APOE INS LPL
37 immunodeficiency 19 7.9 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 via clinical synopsis from OMIM:

54

Lab:
decreased ldl and hdl
increased chylomicrons and vldl
hyperlipoproteinemia v

Misc:
multiple causes, including insulin-dependent diabetes mellitus, contraceptive steroids, alcohol abuse, and glycogen storage disease i


Clinical features from OMIM:

144650

Human phenotypes related to Hyperchylomicronemia, Late-Onset:

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

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 all 26)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anticholesteremic Agents Phase 4,Phase 3,Phase 2
2 Antimetabolites Phase 4,Phase 3,Phase 2
3 Calcium, Dietary Phase 4,Phase 3
4 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3
5 Hypolipidemic Agents Phase 4,Phase 3,Phase 2
6 Lipid Regulating Agents Phase 4,Phase 3,Phase 2
7 Rosuvastatin Calcium Phase 4 147098-20-2
8
Fenofibrate Approved Phase 3 49562-28-9 3339
9
Simvastatin Approved Phase 3 79902-63-9 54454
10
Ezetimibe Approved Phase 3 163222-33-1 150311
11
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
12
Nicotinamide Approved, Nutraceutical Phase 3 98-92-0 936
13
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
14 Atorvastatin Calcium Phase 3 134523-03-8
15 Nicotinic Acids Phase 3
16 Micronutrients Phase 3
17 Trace Elements Phase 3
18 Vasodilator Agents Phase 3
19 Vitamin B Complex Phase 3
20 Vitamins Phase 3
21
Torcetrapib Phase 3 262352-17-0 159325
22 Vitamin B3 Nutraceutical Phase 3
23 Folate Nutraceutical Phase 3
24 Vitamin B9 Nutraceutical Phase 3
25
Anacetrapib Phase 2 875446-37-0
26 Fenofibric acid Approved 42017-89-0

Interventional clinical trials:

(show all 13)

id Name Status NCT ID Phase Drugs
1 Effect of Rosuvastatin on Triglyceride Levels in Mexican Hypertriglyceridemic Patients Completed NCT00473655 Phase 4 rosuvastatin
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 MK-0524A;Atorvastatin;Simvastatin
4 Lipid Efficacy Study (0524B-022)(COMPLETED) Completed NCT00269217 Phase 3 niacin (+) laropiprant (+) simvastatin;Comparator: niacin (+) laropiprant;Comparator: simvastatin
5 Lipid Efficacy/Tolerability Study (0524A-020) Completed NCT00269204 Phase 3 niacin (+) laropiprant;ER-niacin
6 A Study to Evaluate an Investigational Drug in Patients With Mixed Hyperlipidemia (0653A-071)(COMPLETED) Completed NCT00093899 Phase 3 ezetimibe (+) simvastatin
7 Study of Ezetimibe and Fenofibrate in Patients With Mixed Hyperlipidemia (0653-036)(COMPLETED) Completed NCT00092573 Phase 3 MK0653, ezetimibe;Comparator: fenofibrate monotherapy
8 Two Investigational Drugs in Patients With Mixed Hyperlipidemia (0653-036) Completed NCT00092560 Phase 3 MK0653, ezetimibe;Comparator: fenofibrate monotherapy
9 Carotid B-mode Ultrasound Study to Compare Anti-Atherosclerotic Effect of Torcetrapib/Atorvastatin to Atorvastatin. Terminated NCT00134238 Phase 3 torcetrapib/atorvastatin;atorvastatin
10 A Pilot Study to Evaluate the Lipid Effects of TRIA-662 Completed NCT02008084 Phase 2 TRIA-662;Placebo
11 Phase 2 Dose-Ranging Efficacy and Safety Trial of SCH 900271 in Participants With Primary Hypercholesterolemia or Mixed Hyperlipidemia (P05675) Completed NCT00941603 Phase 2 SCH 900271 15mg;SCH 900271;SCH 900271;SCH 900271;SCH 900271;Placebo
12 MK0859 Dose-Ranging Study (0859-003) Terminated NCT00325455 Phase 2 MK0859
13 Comparison of the Efficacy and Safety of AtorVastatin mOnotherapy vs. Combination Atorvastatin/Fenofibric Acid Unknown status NCT01974297 Atorvastatin 10mg, fenofibric acid 135mg;atorvastatin 20mg

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 31)
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 9.82 APOA5 APOE INS
3 lipid transport GO:0006869 9.77 APOA5 APOC2 APOE
4 retinoid metabolic process GO:0001523 9.69 APOC2 APOE LPL
5 positive regulation of catalytic activity GO:0043085 9.65 APOC2 APOE
6 lipoprotein metabolic process GO:0042157 9.64 APOA5 APOE
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 metabolic process GO:0006641 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 triglyceride catabolic process GO:0019433 9.61 APOA5 APOE LPL
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 cholesterol efflux GO:0033344 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 chylomicron remnant clearance GO:0034382 9.55 APOC2 APOE
22 neuron projection regeneration GO:0031102 9.54 APOA5 APOE
23 reverse cholesterol transport GO:0043691 9.54 APOA5 APOC2 APOE
24 phospholipid efflux GO:0033700 9.5 APOA5 APOC2 APOE
25 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.49 APOA5 APOC2
26 positive regulation of very-low-density lipoprotein particle remodeling GO:0010902 9.48 APOA5 APOC2
27 cholesterol homeostasis GO:0042632 9.46 APOA5 APOC2 APOE LPL
28 chylomicron remodeling GO:0034371 9.43 APOC2 APOE LPL
29 positive regulation of dendritic spine maintenance GO:1902952 9.22 APOE
30 very-low-density lipoprotein particle remodeling GO:0034372 9.13 APOC2 APOE LPL
31 triglyceride homeostasis GO:0070328 8.92 APOA5 APOC2 APOE 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 low-density lipoprotein particle receptor binding GO:0050750 9.32 APOA5 APOE
7 cholesterol transporter activity GO:0017127 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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