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Concept information

Preferred term

Nijmegen Breakage Syndrome  

Type

  • mesh:Descriptor

Definition

  • 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.

Entry terms

  • Ataxia-Telangiectasia Variant 1
  • Ataxia-Telangiectasia Variant V1
  • At-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

In other languages

URI

http://data.loterre.fr/ark:/67375/JVR-K9HWMJ75-L

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RDF/XML TURTLE JSON-LD Created 6/30/05, last modified 7/8/13