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Tangier disease
Summary
- Synonym
-
- familial alpha-lipoprotein deficiency
- familial high density lipoprotein deficiency
- Definition
- A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31.
- Super Class
- hypolipoproteinemia
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5286 | PIK3C2A | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | |
| 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
