Nijmegen Breakage Syndrome
"Nijmegen Breakage Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
Descriptor ID |
D049932
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MeSH Number(s) |
C18.452.284.600
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Concept/Terms |
Nijmegen Breakage Syndrome- Nijmegen Breakage Syndrome
- Breakage Syndrome, Nijmegen
- Syndrome, Nijmegen Breakage
- Ataxia-Telangiectasia Variant 1
- Ataxia Telangiectasia Variant 1
- Ataxia-Telangiectasia Variant 1s
- Variant 1s, Ataxia-Telangiectasia
- Ataxia-Telangiectasia Variant V1
- Ataxia Telangiectasia Variant V1
- Ataxia-Telangiectasia Variant V1s
- Variant V1, Ataxia-Telangiectasia
- Variant V1s, Ataxia-Telangiectasia
- Seemanova Syndrome II
- Immunodeficiency, Microcephaly, And Chromosomal Instability
- Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies
- Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence
- Seemanova Syndrome 2
- At-V1
- Berlin Breakage Syndrome
- Breakage Syndrome, Berlin
- Syndrome, Berlin Breakage
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Below are MeSH descriptors whose meaning is more general than "Nijmegen Breakage Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Nijmegen Breakage Syndrome".
This graph shows the total number of publications written about "Nijmegen Breakage Syndrome" by people in this website by year, and whether "Nijmegen Breakage Syndrome" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2019 | 0 | 1 | 1 |
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Below are the most recent publications written about "Nijmegen Breakage Syndrome" by people in Profiles.
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Buchbinder D, Hauck F, Albert MH, Rack A, Bakhtiar S, Shcherbina A, Deripapa E, Sullivan KE, Perelygina L, Eloit M, Neven B, P?rot P, Moshous D, Suarez F, Bodemer C, Bonilla FA, Vaz LE, Krol AL, Klein C, Seppanen M, Nugent DJ, Singh J, Ochs HD. Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders. J Clin Immunol. 2019 01; 39(1):81-89.