Nijmegen Breakage Syndrome [syndrom Nijmegen breakage]
- Terms
-
Berlin breakage syndrom
Nijmegen breakage syndrom
syndrom Seemanové 2
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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
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.
- DUI
- D049932 MeSH Browser
- CUI
- M0471083
- History note
- 2006
- Public note
- 2006
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications 3
- DI
- diagnosis 7
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy 2
- EC
- economics
- EM
- embryology
- EN
- enzymology
- EP
- epidemiology 1
- EH
- ethnology 1
- ET
- etiology 1
- GE
- genetics 12
- HI
- history
- IM
- immunology
- ME
- metabolism
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology 3
- PP
- physiopathology 2
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy 1
- UR
- urine
- VE
- veterinary
- VI
- virology