loading...| Preferred Name | Nijmegen Breakage Syndrome [Disease/Finding] | |
| Synonyms |
Immunodeficiency, Microcephaly, And Chromosomal Instability At-V1 Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies Nijmegen Breakage Syndrome Ataxia-Telangiectasia Variant 1 Seemanova Syndrome II Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence Ataxia-Telangiectasia Variant V1 Seemanova Syndrome 2 Berlin Breakage Syndrome |
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| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000171677 |
|
| altLabel |
Immunodeficiency, Microcephaly, And Chromosomal Instability At-V1 Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies Nijmegen Breakage Syndrome Ataxia-Telangiectasia Variant 1 Seemanova Syndrome II Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence Ataxia-Telangiectasia Variant V1 Seemanova Syndrome 2 Berlin Breakage Syndrome |
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| cui |
C0398791 |
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| MESH 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. |
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| MESH DUI |
D049932 |
|
| MeSH name |
Nijmegen Breakage Syndrome |
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| MESH UI |
M0471083 |
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| NDFRT kind |
DISEASE_KIND |
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| notation |
N0000171677 |
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| NUI |
N0000171677 |
|
| prefLabel |
Nijmegen Breakage Syndrome [Disease/Finding] |
|
| SNOMED CID |
234638009 |
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| tui |
T047 |
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| subClassOf |