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Disease Nijmegen Breakage Syndrome

Name Nijmegen Breakage Syndrome
Synonyms Ataxia Telangiectasia Variant 1 | Ataxia-Telangiectasia Variant 1 | Ataxia-Telangiectasia Variant 1s | Ataxia Telangiectasia Variant V1 | Ataxia-Telangiectasia Variant V1 | Ataxia-Telangiectasia Variant V1s | ATAXIA-TELANGIECTASIA VARIANT V2, INCLUDED | At-V1 | AT-V2, INCLUDED | BBS, INCLUDED | Berlin Breakage Syndrome | Breakage Syndrome, Berlin | Breakage Syndrome, Nijmegen | Immunodeficiency, Microcephaly, And Chromosomal Instability | IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY BERLIN BREAKAGE SYNDROME, INCLUDED | Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies | NBS | Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence | Seemanova Syndrome 2 | Seemanova Syndrome II | Syndrome, Berlin Breakage | Syndrome, Nijmegen Breakage | Variant 1s, Ataxia-Telangiectasia | Variant V1, Ataxia-Telangiectasia | Variant V1s, Ataxia-Telangiectasia
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.
Categories Metabolic disease
MeSH® ID D049932
OMIM® ID 251260
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Top ↑ Ancestors

DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references DNA Repair-Deficiency Disorders Has associated chemicals Has associated genes Nijmegen Breakage Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Nijmegen Breakage Syndrome Has associated chemicals Has associated genes
  Microcephaly microcornea syndrome Seemanova type