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Nijmegen Breakage Syndrome

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:
At-V1; Ataxia-Telangiectasia Variant 1; Ataxia-Telangiectasia Variant V1; Berlin Breakage Syndrome; Immunodeficiency, Microcephaly, And Chromosomal Instability; Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies; Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence; Seemanova Syndrome 2; Seemanova Syndrome II; Ataxia Telangiectasia Variant 1; Ataxia Telangiectasia Variant V1; Ataxia-Telangiectasia Variant 1s; Ataxia-Telangiectasia Variant V1s; Breakage Syndrome, Berlin; Breakage Syndrome, Nijmegen; Syndrome, Berlin Breakage; Syndrome, Nijmegen Breakage; Variant 1s, Ataxia-Telangiectasia; Variant V1, Ataxia-Telangiectasia; Variant V1s, Ataxia-Telangiectasia
Networked: 225 relevant articles (0 outcomes, 8 trials/studies)

Disease Context: Research Results

Related Diseases

1. Ataxia Telangiectasia (Louis Bar Syndrome)
2. Genomic Instability
3. Ataxia (Dyssynergia)
4. Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
5. Lung Neoplasms (Lung Cancer)

Experts

1. Komatsu, Kenshi: 10 articles (08/2016 - 08/2002)
2. Kobayashi, Junya: 6 articles (07/2017 - 10/2002)
3. Digweed, Martin: 6 articles (05/2013 - 08/2004)
4. Deripapa, Elena: 5 articles (01/2021 - 01/2017)
5. Pietrucha, Barbara: 5 articles (01/2021 - 06/2010)
6. Sperling, Karl: 5 articles (01/2017 - 03/2004)
7. Petrini, John H J: 5 articles (08/2012 - 08/2006)
8. Tauchi, Hiroshi: 5 articles (10/2007 - 10/2002)
9. Gennery, Andrew R: 4 articles (04/2022 - 01/2018)
10. Chrzanowska, Krystyna H: 4 articles (01/2022 - 01/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Nijmegen Breakage Syndrome:
1. Proteins (Proteins, Gene)FDA Link
2. DNA (Deoxyribonucleic Acid)IBA
3. Phosphotransferases (Kinase)IBA
4. AntioxidantsIBA
5. IntegrasesIBA
6. Factor XI (Plasma Thromboplastin Antecedent)IBA
7. Viral DNAIBA
8. Cisplatin (Platino)FDA LinkGeneric
9. Fumaric aciduriaIBA
10. 1,2- di- (4- sulfamidophenyl)- 4- butylpyrazolidine- 3,5- dione (DSB)IBA

Therapies and Procedures

1. Therapeutics
2. Hematopoietic Stem Cell Transplantation
3. Radiotherapy
4. Lasers (Laser)
5. Stem Cell Transplantation