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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Bloom syndrome
Summary
- Synonym
-
- Bloom-Torre-Machacek syndrome
- Congenital Telangiectatic Erythema syndrome
- Definition
- A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.
- Super Class
- autosomal recessive disease syndrome
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 250 | ALPP | alkaline phosphatase, placental | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 847 | CAT | catalase | |
| 3931 | LCAT | lecithin-cholesterol acyltransferase | |
| 5315 | PKM | pyruvate kinase M1/2 | |
| 5329 | PLAUR | plasminogen activator, urokinase receptor | |
| 6319 | SCD | stearoyl-CoA desaturase | |
| 7374 | UNG | uracil DNA glycosylase | |
| 26033 | ATRNL1 | attractin like 1 | |
| 60495 | HPSE2 | heparanase 2 (inactive) |
Related Glycoprotein
