PedAM

Pediatric Disease Annotations & Medicines


	hyperchylomicronemia, late-onset

Disease ID	1612
Disease	hyperchylomicronemia, late-onset
Definition	A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I .
Synonym	familial hyperlipoproteinemia type v familial type 5 hyperlipoproteinaemia familial type 5 hyperlipoproteinemia familial type 5 hyperlipoproteinemia (disorder) familial type v hyperlipoproteinaemia familial type v hyperlipoproteinemia fredrickson type v hyperlipoproteinaemia fredrickson type v hyperlipoproteinemia fredrickson type v lipaemia fredrickson type v lipemia fredrickson type v lipidemia hyperchylomicronemia late onset hyperchylomicronemia late onsets hyperchylomicronemia, late onset hyperchylomicronemias, late-onset hyperlipemia, combined fat and carbohydrate induced hyperlipemia, combined fat and carbohydrate-induced hyperlipemia, mixed hyperlipemias, mixed hyperlipidemia, type v hyperlipidemias, type v hyperlipoproteinemia type 05 hyperlipoproteinemia type 5 hyperlipoproteinemia type 5s hyperlipoproteinemia type v hyperlipoproteinemia type v [disease/finding] hyperlipoproteinemia, type v hyperlipoproteinemias, type v hyperprebetalipoproteinemia with chylomicronemia late-onset hyperchylomicronemia late-onset hyperchylomicronemias mixed hyperlipemia mixed hyperlipemias type v hyperlipidemia type v hyperlipidemias type v hyperlipoproteinemia type v hyperlipoproteinemias type v lipidemia
Orphanet	ORPHANET:70470
OMIM	OMIM:144650
DOID	DOID:1171
UMLS	C0020481
MeSH	D006954
SNOMED-CT	SNOMEDCT_US_2016_09_01:34349009
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) LPL \| 4023 \| ORPHANET APOA5 \| 116519 \| CLINVAR;CTD_human;ORPHANET CREB3L3 \| 84699 \| ORPHANET GPIHBP1 \| 338328 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1612
Disease	hyperchylomicronemia, late-onset
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:4) HP:0003563 \| Hypobetalipoproteinemia HP:0003362 \| Increased circulating very-low-density lipoprotein cholesterol HP:0012238 \| Increased chylomicrons HP:0003233 \| Low HDL-cholesterol
Text Mined Phenotype	(Waiting for update.)

Disease ID	1612
Disease	hyperchylomicronemia, late-onset
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121917821	16200213	4023	LPL	umls:C0020481	BeFree	Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment.	0.120271442	2005	APOA5	11	116790814	G	A
rs121917821	16200213	116519	APOA5	umls:C0020481	BeFree	Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment.	0.360271442	2005	APOA5	11	116790814	G	A
rs121917821	NA	116519	APOA5	umls:C0020481	CLINVAR	NA	0.360271442	NA	APOA5	11	116790814	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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