Norum disease

Summary
Synonym
  • LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
  • lecithin acyltransferase deficiency
Super Class
hypolipoproteinemia
External Links
Disease Ontology
DOID:1391
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 15 in total
Gene ID Gene Symbol Description Source
1946 EFNA5 ephrin A5
2822 GPLD1 glycosylphosphatidylinositol specific phospholipase D1
3030 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
3032 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
3290 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1
3339 HSPG2 heparan sulfate proteoglycan 2
3931 LCAT lecithin-cholesterol acyltransferase
3956 LGALS1 galectin 1
4023 LPL lipoprotein lipase
5286 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
The Human Phenotype Ontology
Displaying all 10 entries
HPO ID HPO Term
HP:0001084 Corneal arcus
HP:0003233 Decreased HDL cholesterol concentration
HP:0000083 Renal insufficiency
HP:0003651 Foam cells
HP:0001895 Normochromic anemia
HP:0000007 Autosomal recessive inheritance
HP:0002155 Hypertriglyceridemia
HP:0000093 Proteinuria
HP:0003581 Adult onset
HP:0001878 Hemolytic anemia
Displaying 1 entry
Gene ID Gene Symbol Description
3931 LCAT lecithin-cholesterol acyltransferase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024