MeSH Browser

MeSH Heading: Nijmegen Breakage Syndrome
Tree Number(s): C18.452.284.600
Unique ID: D049932
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D049932
Scope Note: 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.
Entry Term(s): At-V1; Ataxia-Telangiectasia Variant 1; Ataxia-Telangiectasia Variant V1; Berlin Breakage Syndrome; Immunodeficiency, Microcephaly, And Chromosomal Instability; Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies; Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence; Seemanova Syndrome 2; Seemanova Syndrome II
Public MeSH Note: 2006
History Note: 2006
Date Established: 2006/01/01
Date of Entry: 2005/06/30
Revision Date: 2013/07/08

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Nijmegen Breakage Syndrome MeSH Descriptor Data 2024