| Descriptor English: | Nijmegen Breakage Syndrome | ||||||
| Descriptor Spanish: |
Síndrome de Nijmegen
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| Descriptor Portuguese: | Síndrome de Quebra de Nijmegen | ||||||
| Descriptor French: | Syndrome des cassures de Nijmegen | ||||||
| Entry term(s): |
At-V1 Ataxia Telangiectasia Variant 1 Ataxia Telangiectasia Variant V1 Ataxia-Telangiectasia Variant 1 Ataxia-Telangiectasia Variant 1s Ataxia-Telangiectasia Variant V1 Ataxia-Telangiectasia Variant V1s Berlin Breakage Syndrome Breakage Syndrome, Berlin Breakage Syndrome, Nijmegen 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 Syndrome, Nijmegen Breakage Variant 1s, Ataxia-Telangiectasia Variant V1, Ataxia-Telangiectasia Variant V1s, Ataxia-Telangiectasia |
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| Tree number(s): |
C18.452.284.600 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D049932 | ||||||
| Scope note: | 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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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Public MeSH Note: | 2006 |
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| History Note: | 2006 |
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| DeCS ID: | 50513 | ||||||
| Unique ID: | D049932 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2006/01/01 | ||||||
| Date of Entry: | 2005/06/30 | ||||||
| Revision Date: | 2013/07/08 |
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Nijmegen Breakage Syndrome
- Preferred
| Concept UI |
M0471083 |
| Scope note | 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. |
| Preferred term | Nijmegen Breakage Syndrome |
| Entry term(s) |
At-V1 Ataxia Telangiectasia Variant 1 Ataxia Telangiectasia Variant V1 Ataxia-Telangiectasia Variant 1 Ataxia-Telangiectasia Variant 1s Ataxia-Telangiectasia Variant V1 Ataxia-Telangiectasia Variant V1s Berlin Breakage Syndrome Breakage Syndrome, Berlin Breakage Syndrome, Nijmegen 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 Syndrome, Nijmegen Breakage Variant 1s, Ataxia-Telangiectasia Variant V1, Ataxia-Telangiectasia Variant V1s, Ataxia-Telangiectasia |
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