MCID: HYP286
MIFTS: 33

Hyperchylomicronemia, Late-Onset malady

Genetic diseases, Rare diseases, Metabolic diseases, Endocrine diseases categories

Summaries for Hyperchylomicronemia, Late-Onset

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MalaCards based summary: Hyperchylomicronemia, Late-Onset, also known as hyperlipoproteinemia type v, is related to hyperlipidemia type 3 and tangier disease, and has symptoms including autosomal dominant inheritance, hypoalphalipoproteinemia and increased circulating very-low-density lipoprotein cholesterol. An important gene associated with Hyperchylomicronemia, Late-Onset is APOA5 (apolipoprotein A-V), and among its related pathways are Fatty acid, triacylglycerol, and ketone body metabolism and PPAR signaling pathway. The compounds fenofibrate and triacylglycerol have been mentioned in the context of this disorder. Related mouse phenotype homeostasis/metabolism.

Description from OMIM:45 144650

Aliases & Classifications for Hyperchylomicronemia, Late-Onset

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Sources:
60UMLS, 45OMIM, 10diseasecard, 9Disease Ontology, 41NIH Rare Diseases, 43Novoseek, 22GTR, 47Orphanet, 55SNOMED-CT, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Hyperchylomicronemia, Late-Onset, Aliases & Descriptions:

Name: Hyperchylomicronemia, Late-Onset 45 10
Hyperlipoproteinemia Type V 9 41 43 60
Familial Type 5 Hyperlipoproteinemia 9 22
Hyperlipoproteinemia Type 5 41 47
Major Hyperlipidemia 41 47
Hyperchylomicronemia with Hyperprebetalipoproteinemia, Familial 41
Hyperlipemia Combined Fat and Carbohydrate-Induced 41
Familial Hyperlipoproteinemia Type V 9
Hyperlipidemia, Familial Combined 60
 
Hyperchylomicronemia Late Onset 41
Hyperlipoproteinemia, Type V 45
Fredrickson Type V Lipaemia 9
Type V Hyperlipoproteinemia 41
Hyperlipidemia Type V 41
Mixed Hyperlipidemia 60
Mixed Hyperlipemia 41
Hyperlipemia Mixed 41


Classifications:



External Ids:

OMIM45 144650
Disease Ontology9 DOID:1171
Orphanet47 70470
SNOMED-CT55 190781009, 34349009
MESH via Orphanet34 D006954
ICD10 via Orphanet26 E78.3
UMLS via Orphanet61 C0020481
ICD1025 E78.3

Related Diseases for Hyperchylomicronemia, Late-Onset

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



Diseases related to hyperchylomicronemia, late-onset

Symptoms for Hyperchylomicronemia, Late-Onset

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Symptoms by clinical synopsis from OMIM:

144650

Clinical features from OMIM:

144650

HPO human phenotypes related to Hyperchylomicronemia, Late-Onset:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hypoalphalipoproteinemia HP:0003233
3 increased circulating very-low-density lipoprotein cholesterol HP:0003362
4 hypobetalipoproteinemia HP:0003563
5 hyperchylomicronemia HP:0012238

Drugs & Therapeutics for Hyperchylomicronemia, Late-Onset

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Drug clinical trials:

Search ClinicalTrials for Hyperchylomicronemia, Late-Onset

Search NIH Clinical Center for Hyperchylomicronemia, Late-Onset

Genetic Tests for Hyperchylomicronemia, Late-Onset

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Genetic tests related to Hyperchylomicronemia, Late-Onset:

id Genetic test Affiliating Genes
1 Familial Type 5 Hyperlipoproteinemia22

Anatomical Context for Hyperchylomicronemia, Late-Onset

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Animal Models for Hyperchylomicronemia, Late-Onset or affiliated genes

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MGI Mouse Phenotypes related to Hyperchylomicronemia, Late-Onset:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.0CREB3L3, LPL, APOA5, GPIHBP1

Publications for Hyperchylomicronemia, Late-Onset

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Variations for Hyperchylomicronemia, Late-Onset

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Clinvar genetic disease variations for Hyperchylomicronemia, Late-Onset:

6
id Gene Variation Type Significance SNP ID Assembly Location
1APOA5NM_052968.4(APOA5): c.415C> T (p.Gln139Ter)single nucleotide variantPathogenicrs121917821GRCh37Chr 11, 116661530: 116661530

Expression for genes affiliated with Hyperchylomicronemia, Late-Onset

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

Pathways for genes affiliated with Hyperchylomicronemia, Late-Onset

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Compounds for genes affiliated with Hyperchylomicronemia, Late-Onset

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

idCompoundScoreTop Affiliating Genes
1fenofibrate43 49 1211.3LPL, APOA5
2triacylglycerol439.2LPL, APOA5
3lovastatin43 49 59 28 1213.2LPL, APOA5
4atorvastatin43 49 28 24 1213.1APOA5, LPL
5heparin43 28 24 1212.1LPL, APOA5
6simvastatin43 49 59 28 24 1214.0LPL, APOA5
7fatty acid438.8LPL, APOA5

GO Terms for genes affiliated with Hyperchylomicronemia, Late-Onset

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

idNameGO IDScoreTop Affiliating Genes
1high-density lipoprotein particleGO:00343649.4APOA5, GPIHBP1
2chylomicronGO:00426279.0LPL, APOA5
3very-low-density lipoprotein particleGO:00343618.8LPL, APOA5

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of lipoprotein lipase activityGO:00510069.5APOA5, GPIHBP1
2cholesterol homeostasisGO:00426329.4APOA5, GPIHBP1
3triglyceride catabolic processGO:00194339.2LPL, APOA5
4triglyceride metabolic processGO:00066419.1APOA5, LPL
5lipid transportGO:00068699.1APOA5, GPIHBP1
6lipoprotein metabolic processGO:00421579.0LPL, APOA5
7triglyceride homeostasisGO:00703288.8LPL, APOA5, GPIHBP1

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

idNameGO IDScoreTop Affiliating Genes
1lipase bindingGO:00354739.3APOA5, GPIHBP1
2heparin bindingGO:00082019.1LPL, APOA5
3lipid bindingGO:00082899.1APOA5, GPIHBP1

Products for genes affiliated with Hyperchylomicronemia, Late-Onset

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Sources for Hyperchylomicronemia, Late-Onset

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet