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Nijmegen Breakage Syndrome MeSH Descriptor Data 2024

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Nijmegen Breakage Syndrome
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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 Term(s)
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
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Nijmegen Breakage Syndrome Preferred
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