Nijmegen Breakage Syndrome - MeSH

Nutritional and Metabolic Diseases > Metabolic Diseases > DNA Repair-Deficiency Disorders > Nijmegen Breakage Syndrome

Nijmegen Breakage Syndrome

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

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.

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

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