loading...| Preferred Name |
Nijmegen Breakage Syndrome |
| Synonyms |
Ataxia Telangiectasia Variant 1 |
| 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 |
Ataxia Telangiectasia Variant 1 Breakage Syndrome, Berlin Ataxia-Telangiectasia Variant 1s Ataxia-Telangiectasia Variant V1s Ataxia Telangiectasia Variant V1 Ataxia-Telangiectasia Variant 1 Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence At-V1 Variant V1, Ataxia-Telangiectasia Ataxia-Telangiectasia Variant V1 Syndrome, Berlin Breakage Syndrome, Nijmegen Breakage Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies Immunodeficiency, Microcephaly, And Chromosomal Instability Seemanova Syndrome II Variant 1s, Ataxia-Telangiectasia Breakage Syndrome, Nijmegen Seemanova Syndrome 2 Variant V1s, Ataxia-Telangiectasia 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/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of SIB |
http://purl.bioontology.org/ontology/MESH/D001816 http://purl.bioontology.org/ontology/MESH/D014898 http://purl.bioontology.org/ontology/MESH/D014983 http://purl.bioontology.org/ontology/MESH/D001260 http://purl.bioontology.org/ontology/MESH/D016864 http://purl.bioontology.org/ontology/MESH/D003123 http://purl.bioontology.org/ontology/MESH/D003057 http://purl.bioontology.org/ontology/MESH/D011038 |
| Machine permutation |
2006 |
| MDA |
20050630 |
| MMR |
20130708 |
| MN |
C18.452.284.600 |
| notation |
D049932 |
| prefLabel |
Nijmegen Breakage Syndrome |
| TERMUI |
T604433 T811291 T811290 T843569 T843568 T811292 T812357 T825105 T842146 T843570 |
| TH |
NLM (2006) NLM (2013) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |