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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 |
|---|---|---|---|
| 31 | ACACA | acetyl-CoA carboxylase alpha | |
| 38 | ACAT1 | acetyl-CoA acetyltransferase 1 | |
| 240 | ALOX5 | arachidonate 5-lipoxygenase | |
| 410 | ARSA | arylsulfatase A | |
| 847 | CAT | catalase | |
| 952 | CD38 | CD38 molecule | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 2548 | GAA | alpha glucosidase | |
| 3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 | |
| 4056 | LTC4S | leukotriene C4 synthase |
Related Glycoprotein
