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Käytettävä termi

Nijmegen Breakage Syndrome  

Tyyppi

  • Topical Descriptor

Ohjaustermit

  • Ataxia Telangiectasia Variant 1
  • Ataxia-Telangiectasia Variant 1
  • Ataxia-Telangiectasia Variant 1s
  • Ataxia Telangiectasia Variant V1
  • Ataxia-Telangiectasia Variant V1
  • Ataxia-Telangiectasia Variant V1s
  • At-V1
  • Berlin Breakage Syndrome
  • Breakage Syndrome, Berlin
  • 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
  • Syndrome, Berlin Breakage
  • Variant 1s, Ataxia-Telangiectasia
  • Variant V1, Ataxia-Telangiectasia
  • Variant V1s, Ataxia-Telangiectasia

Käyttöhuomautus

  • 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.

Huomautus muutoshistoriasta

  • 2006

Muunkieliset termit

URI

http://www.yso.fi/onto/mesh/D049932

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RDF/XML TURTLE JSON-LD Luotu 30.6.2005, viimeksi muokattu 11.4.2022