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ataxia telangiectasia
Summary
- Synonym
-
- Boder-Sedgwick syndrome
- Louis Bar syndrome
- Definition
- An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22.
- Super Class
- autosomal recessive cerebellar ataxia
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4684 | NCAM1 | neural cell adhesion molecule 1 | |
| 5168 | ENPP2 | ectonucleotide pyrophosphatase/phosphodiesterase 2 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5321 | PLA2G4A | phospholipase A2 group IVA | |
| 5742 | PTGS1 | prostaglandin-endoperoxide synthase 1 | |
| 6646 | SOAT1 | sterol O-acyltransferase 1 | |
| 6916 | TBXAS1 | thromboxane A synthase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9H1B5 | Xylosyltransferase 2 |
