Nijmegen breakage syndrome

Preferred Label : Nijmegen breakage syndrome;

Symbol : NBS;

CISMeF acronym : AT-V1; AT-V2; BBS; NBS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ataxia-telangiectasia variant v1; Microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies; Seemanova syndrome II; Nonsyndromal microcephaly, autosomal recessive, with normal intelligence; Immunodeficiency, microcephaly, and chromosomal instability; AT-V1;

Included titles and symbols : Berlin breakage syndrome; Ataxia-telangiectasia variant v2; BBS; AT-V2;

Description : The Nijmegen breakage syndrome and the phenotypically indistinguishable Berlin breakage syndrome are autosomal recessive chromosomal instability syndromes characterized by microcephaly, growth retardation, immunodeficiency, and predisposition to cancer. Ataxia-telangiectasia variant-1 is the designation applied to the Nijmegen breakage syndrome and AT variant-2 is the designation for the Berlin breakage syndrome, which differ only in complementation studies. Cells from NBS/BBS patients are hypersensitive to ionizing radiation with cytogenetic features indistinguishable from those of ataxia-telangiectasia (AT; 208900), but NBS/BBS patients have a distinct clinical phenotype. The clinical features of LIG4 syndrome (606593), caused by mutation in the LIG4 gene (601837), resemble those of NBS.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the Nijmegen breakage syndrome gene (NBS1, 602667.0001);

Neoplasia : Lymphoma; Glioma; Medulloblastoma; Rhabdomyosarcoma;

Laboratory abnormalities : Normal alpha fetoprotein; Low T cell count; Low CD4 count; Low B cell count; Low CD4 /CD8 ratio;

Prefixed ID : #251260;

Details

Origin ID

251260;

UMLS CUI

C0398791;

Automatic exact mappings (from CISMeF team)
- Ataxia-Telangiectasia variant V2 [MeSH concept]
- Ataxia-Telangiectasia variant V2 [MeSH Supplementary Concept]
- Bardet-Biedl Syndrome [NCIt concept]
- Bardet-Biedl syndrome [ORDO Disease]
- NBL1 wt Allele [NCIt concept]
- NBN wt Allele [NCIt concept]
- NeuroBlate System [NCIt concept]
- Sarcoidosis [ORDO Disease]
- bardet-biedl syndrome [MeSH Descriptor]
- nibrin [ORDO Gene]
- sarcoidosis [MeSH Descriptor]
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 [ORDO Disease]
- nijmegen breakage syndrome [MeSH Descriptor]
- nijmegen breakage syndrome [MeSH concept]
DO Cross reference
- Nijmegen breakage syndrome [DO Concept]
False automatic mappings
- Nibrin [NCIt concept]
Genes related to phenotype
- Nibrin [OMIM gene]
HPO term(s)
- Anal atresia [HPO term]
- Anal stenosis [HPO term]
- Autoimmune hemolytic anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- B lymphocytopenia [HPO term]
- Bronchiectasis [HPO term]
- Cafe-au-lait spot [HPO term]
- Choanal atresia [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Diarrhea [HPO term]
- Dysgammaglobulinemia [HPO term]
- Glioma [HPO term]
- Hydronephrosis [HPO term]
- Hyperactivity [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Large, dysplastic ears [HPO term]
- Long nose [HPO term]
- Lymphoma [HPO term]
- Macrotia [HPO term]
- Malar prominence [HPO term]
- Mastoiditis [HPO term]
- Medulloblastoma [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Neurodegeneration [HPO term]
- Otitis media [HPO term]
- Premature ovarian insufficiency [HPO term]
- Prenatal growth deficiency [HPO term]
- Progressive vitiligo [HPO term]
- Prominent midface [HPO term]
- Recurrent bronchitis [HPO term]
- Recurrent infection of the gastrointestinal tract [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent urinary tract infections [HPO term]
- Rhabdomyosarcoma [HPO term]
- Short stature [HPO term]
- Sinusitis [HPO term]
- Sloping forehead [HPO term]
- T lymphocytopenia [HPO term]
- Thrombocytopenia [HPO term]
- Upslanted palpebral fissure [HPO term]
ORDO concept(s)
- Nijmegen breakage syndrome [ORDO Disease]
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 [ORDO Disease]
- Nijmegen breakage syndrome [DO Concept]
- Nijmegen breakage syndrome [PASCAL descriptor]
- Nijmegen breakage syndrome [Disease (Nov.)]
- Nijmegen breakage syndrome [ICD-11 More detail]
- nijmegen breakage syndrome [MeSH Descriptor]
- nijmegen breakage syndrome [MeSH concept]

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