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 11 - 15 of 15 in total
Gene ID Gene Symbol Description Source
5320 PLA2G2A phospholipase A2 group IIA
7903 ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4
7941 PLA2G7 phospholipase A2 group VII
8399 PLA2G10 phospholipase A2 group X
8809 IL18R1 interleukin 18 receptor 1
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