ONTOLOGY REPORT - ANNOTATIONS


Term:Nijmegen breakage syndrome
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Accession:DOID:7400 term browser browse the term
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.
Synonyms:exact_synonym: At-V1;   Ataxia Telangiectasia Variant V1;   Berlin Breakage Syndrome;   Immunodeficiency, Microcephaly, And Chromosomal Instability;   MICROCEPHALY, NORMAL INTELLIGENCE AND IMMUNODEFICIENCY;   Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies;   NBS;   Seemanova syndrome;   Seemanova syndrome 2;   Seemanova syndrome II;   ataxia telangiectasia variant 1;   autosomal recessive nonsyndromal microcephaly with normal intelligence
 narrow_synonym: AT-V2;   ATAXIA-TELANGIECTASIA VARIANT V2;   BBS;   IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY BERLIN BREAKAGE SYNDROME
 primary_id: MESH:D049932
 alt_id: OMIM:251260;   RDO:0000171
 xref: GARD:3904
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Nijmegen breakage syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nbn nibrin JBrowse link 5 29,622,347 29,656,877 RGD:8554872
RGD:7240710
RGD:11554173
G Osgin2 oxidative stress induced growth inhibitor family member 2 JBrowse link 5 29,663,131 29,683,634 RGD:8554872
G Sdhc succinate dehydrogenase complex subunit C JBrowse link 13 89,498,047 89,518,979 RGD:8554872
G Slc19a3 solute carrier family 19 member 3 JBrowse link 9 88,762,775 88,828,553 RGD:8554872

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Path 1
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  disease 14875
    syndrome 4220
      Nijmegen breakage syndrome 4
        Microcephaly Microcornea Syndrome Seemanova Type 0
Path 2
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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal recessive disease 1249
                Nijmegen breakage syndrome 4
                  Microcephaly Microcornea Syndrome Seemanova Type 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.