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Norum disease
Summary
- Synonym
-
- LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
- lecithin acyltransferase deficiency
- Super Class
- hypolipoproteinemia
Related Genes
| 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 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P80108 | Phosphatidylinositol-glycan-specific phospholipase D | |
| P98160 | Basement membrane-specific heparan sulfate proteoglycan core protein | |
| Q13093 | Platelet-activating factor acetylhydrolase | |
| Q13478 | Interleukin-18 receptor 1 | |
| Q92187 | CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase |
- The Human Phenotype Ontology
| 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 |
