nijmegen breakage syndrome

Preferred Label : nijmegen breakage syndrome;

MeSH 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.;

MeSH synonym : breakage syndrome, nijmegen; syndrome, nijmegen breakage; berlin breakage syndrome; Ataxia-Telangiectasia variant 1; ataxia telangiectasia variant 1; Ataxia-Telangiectasia variant 1s; variant 1s, Ataxia-Telangiectasia; Ataxia-Telangiectasia variant V1; ataxia telangiectasia variant V1; Ataxia-Telangiectasia variant V1s; variant V1, Ataxia-Telangiectasia; variant V1s, Ataxia-Telangiectasia; seemanova syndrome II; immunodeficiency, microcephaly, and chromosomal instability; microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies; nonsyndromal microcephaly, autosomal recessive, with normal intelligence; seemanova syndrome 2; At-V1; breakage syndrome, berlin; syndrome, berlin breakage;

CISMeF synonym : Nijmegen;

Wikipedia link : https://en.wikipedia.org/wiki/Berlin breakage syndrome;

Details

Origin ID

D049932;

UMLS CUI

C0398791;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- Microcephaly, normal intelligence and immunodeficiency (disorder) [SNOMED CT concept]
- Nijmegen Breakage Syndrome [NCIt concept]
- Nijmegen breakage syndrome [Disease (Nov.)]
- Nijmegen breakage syndrome [PASCAL descriptor]
- Nijmegen breakage syndrome [DO Concept]
- Nijmegen breakage syndrome [ICD-11 More detail]
- Nijmegen breakage syndrome [MedDRA Preferred Term]
- Nijmegen breakage syndrome [OMIM Phenotype]
- Nijmegen breakage syndrome [ORDO Disease]
DO Cross reference
- Nijmegen breakage syndrome [DO Concept]
False automatic mappings
- Nibrin [NCIt concept]
Has phenotype(s) (HPO)
- Large, dysplastic ears [HPO term]
- Prenatal growth deficiency [HPO term]
- Prominent midface [HPO term]
- Recurrent pneumonia [HPO term]
Manual NTBT mappings (CISMeF)
- DNA repair defect other than combined T-cell and B-cell immunodeficiencies [ORDO Disease]
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
ORDO relation(s)
- Nijmegen breakage syndrome [ORDO Disease]
Record concept(s)
- nijmegen breakage syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microcephaly, normal intelligence and immunodeficiency (disorder) [SNOMED CT concept]
- Nijmegen Breakage Syndrome [NCIt concept]
- Nijmegen breakage syndrome [MedDRA Preferred Term]
- Nijmegen breakage syndrome [OMIM Phenotype]
- Nijmegen breakage syndrome [ORDO Disease]
- Nijmegen breakage syndrome [DO Concept]
- Nijmegen breakage syndrome [PASCAL descriptor]
- Nijmegen breakage syndrome [Disease (Nov.)]
- Nijmegen breakage syndrome [ICD-11 More detail]

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