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DeCS
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Descriptor English:
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Nijmegen Breakage Syndrome
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Descriptor Spanish:
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Síndrome de Nijmegen
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Descriptor Portuguese:
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Síndrome de Quebra de Nijmegen
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Synonyms English:
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At-V1
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
Ataxia Telangiectasia Variant 1
Ataxia Telangiectasia Variant V1
Ataxia-Telangiectasia Variant 1s
Ataxia-Telangiectasia Variant V1s
Breakage Syndrome, Berlin
Breakage Syndrome, Nijmegen
Syndrome, Berlin Breakage
Syndrome, Nijmegen Breakage
Variant 1s, Ataxia-Telangiectasia
Variant V1, Ataxia-Telangiectasia
Variant V1s, Ataxia-Telangiectasia
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Tree Number:
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C18.452.284.600
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Definition English:
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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. |
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History Note English:
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2006
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Allowable Qualifiers English:
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Record Number:
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50513
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Unique Identifier:
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D049932
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Occurrence in VHL:
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Similar:
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DeCS CID-10 LILACS
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