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Nijmegen Breakage Syndrome Summary

Description: A chromosome instability syndrome resulting from a defective response to DNA double-strand breaks. In addition to characteristic FACIES and MICROCEPHALY, patients have a range of findings including RADIOSENSITIVITY, immunodeficiency, increased cancer risk, and growth retardation. Causative mutations occur in the NBS1 gene, located on human chromosome 8q21. NBS1 codes for nibrin, the key regulator protein of the R/M/N (RAD50/MRE11/NBS1) protein complex which senses and mediates cellular response to DNA DAMAGE caused by IONIZING RADIATION.

Also Known As: Breakage Syndrome, Nijmegen; Syndrome, Nijmegen Breakage

Networked: 141 relevant articles (0 outcomes, 5 trials/studies) for this Disease

Key Drugs and Agents for Nijmegen Breakage Syndrome

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. DNA (Deoxyribonucleic Acid) : 3 studies in 58 results : IBA
  2. Proteins (Proteins, Gene) : 1 study in 18 results : IBA
  3. Phosphotransferases (Kinase) : 1 study in 9 results : IBA
  4. Integrases : 1 study in 1 result : IBA
  5. Viral DNA : 1 study in 1 result : IBA
  6. Cisplatin (Platino) : 1 study in 1 result : FDA 6 Generic
  7. 1,2- di- (4- sulfamidophenyl)- 4- butylpyrazolidine- 3,5- dione (DSB) : 12 results : IBA
  8. A-Form DNA (A-DNA) : 6 results : IBA
  9. Staphylococcal Protein A (A, Protein) : 5 results : IBA
  10. Histones (Histone) : 5 results : IBA
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Diseases Related to Nijmegen Breakage Syndrome

  1. Ataxia Telangiectasia (Louis Bar Syndrome)
  2. Lung Neoplasms (Lung Cancer)
  3. Squamous Cell Carcinoma (Epidermoid Carcinoma)
  4. Neoplasms (Cancer)
  5. Fanconi Anemia (Fanconi's Anemia)
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Key Therapies for Nijmegen Breakage Syndrome

Efficacy Chart >>
  1. Radiotherapy : 2 results
  2. Transplantation (Transplant Recipients) : 1 result
  3. Lasers (Laser) : 1 result
  4. Drug Therapy (Chemotherapy) : 1 result

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