loading...| Preferred Name | Nijmegen Breakage Syndrome | |
| Synonyms |
Immunodeficiency, Microcephaly, And Chromosomal Instability Ataxia Telangiectasia Variant 1 At-V1 Variant V1s, Ataxia-Telangiectasia Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies Ataxia-Telangiectasia Variant 1 Syndrome, Nijmegen Breakage Seemanova Syndrome II Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence Variant V1, Ataxia-Telangiectasia Syndrome, Berlin Breakage Ataxia-Telangiectasia Variant V1 Breakage Syndrome, Nijmegen Breakage Syndrome, Berlin Ataxia-Telangiectasia Variant V1s Ataxia Telangiectasia Variant V1 Seemanova Syndrome 2 Variant 1s, Ataxia-Telangiectasia Ataxia-Telangiectasia Variant 1s Berlin Breakage Syndrome |
|
| Definitions |
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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D049932 |
|
| altLabel |
Immunodeficiency, Microcephaly, And Chromosomal Instability Ataxia Telangiectasia Variant 1 At-V1 Variant V1s, Ataxia-Telangiectasia Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies Ataxia-Telangiectasia Variant 1 Syndrome, Nijmegen Breakage Seemanova Syndrome II Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence Variant V1, Ataxia-Telangiectasia Syndrome, Berlin Breakage Ataxia-Telangiectasia Variant V1 Breakage Syndrome, Nijmegen Breakage Syndrome, Berlin Ataxia-Telangiectasia Variant V1s Ataxia Telangiectasia Variant V1 Seemanova Syndrome 2 Variant 1s, Ataxia-Telangiectasia Ataxia-Telangiectasia Variant 1s Berlin Breakage Syndrome |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0398791 |
|
| DC |
1 |
|
| 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. |
|
| DX |
20060101 |
|
| HN |
2006 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
2006 |
|
| MDA |
20050630 |
|
| MMR |
20130708 |
|
| MN |
C18.452.284.600 |
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| notation |
D049932 |
|
| prefLabel |
Nijmegen Breakage Syndrome |
|
| TERMUI |
T843568 T843570 T842146 T811290 T604433 T825105 T811292 T811291 T812357 T843569 |
|
| TH |
OMIM (2013) NLM (2013) GHR (2014) NLM (2006) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |