{"orpha":647,"name":"Nijmegen breakage syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["AT V1","Ataxia-telangiectasia, variant 1","Berlin breakage syndrome","Immunodeficiency-microcephaly-chromosomal instability syndrome","Microcephaly-immunodeficiency-lymphoid malignancy syndrome","NBS","Seemanova syndrome type 2"],"definition":"A rare, genetic chromosomal instability syndrome presenting at birth with microcephaly, dysmorphic facial features which become more noticeable with age, growth delay, recurring sinopulmonary infections and extremely high frequency of malignancies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-647/","orphanet_url":"https://www.orpha.net/en/disease/detail/647","names":{"fr":{"name":"Syndrome de Nijmegen","synonyms":["AT V1","Ataxie-télangiectasie variante 1","Syndrome Berlin breakage","Syndrome Nijmegen breakage","Syndrome d'immunodéficience-microcéphalie-instabilité chromosomique","Syndrome de Nimègue","Syndrome de Seemanova type 2","Syndrome de microcéphalie-immunodéficience-tumeur lymphoïde","Syndrome des cassures de Nijmegen"],"definition":"Syndrome génétique rare d'instabilité chromosomique se présentant à la naissance avec une microcéphalie, une dysmorphie faciale qui s'accentue avec l'âge, un retard de croissance, des infections sino-pulmonaires récurrentes et une fréquence extrêmement élevée de tumeurs malignes."},"de":{"name":"Nijmegen-Chromosomenbruch-Syndrom","synonyms":["AT V1","Ataxia-Teleangiectasia Variante 1","Berlin-breakage-Syndrom","Immundefekt-Mikrozephalie-Chromosomeninstabilität-Syndrom","Mikrozephalie-Immundefekt-Lymphoretikulom-Syndrom","NBS","Nijmegen-breakage-Syndrom","Seemanova-Syndrom, Typ 2"],"definition":"Ein seltenes Chromosomeninstabilitätssyndrom, das bei der Geburt mit Mikrozephalie, Gesichtsdysmorphien, die mit zunehmendem Alter deutlicher werden, Wachstumsverzögerung, wiederkehrenden sinopulmonalen Infektionen und einer extrem hohen Häufigkeit von Malignomen einhergeht."},"es":{"name":"Síndrome de rotura de Nijmegen","synonyms":["Ataxia-telangiectasia variante 1","Síndrome de Seemanova tipo 2","Síndrome de inmunodeficiencia-microcefalia-inestabilidad cromosómica","Síndrome de microcefalia-inmunodeficiencia-linfoma","Síndrome de rotura de Berlin"],"definition":"Es un síndrome poco frecuente de inestabilidad cromosómica de origen genético presente al nacimiento y que se manifiesta con microcefalia, rasgos faciales dismórficos que se vuelven más notorios con la edad, retraso del crecimiento, infecciones sinopulmonares recurrentes y una frecuencia extremadamente alta de tumores malignos."},"it":{"name":"Sindrome di Nijmegen da frammentazione cromosomica","synonyms":["AT V1","Atassia - telangectasia, variante 1","Immunodeficienza - microcefalia - instabilità cromosomica","NBS","Sindrome da microcefalia, immunodeficienza e tumore linfoide","Sindrome da rotture cromosomiche di Berlino","Sindrome di Seemanova, tipo 2"],"definition":"La sindrome da frammentazione cromosomica di Nijmegen (NBS) è una malattia genetica rara da instabilità cromosomica, che si manifesta alla nascita con microcefalia, dismorfismi facciali che diventano più evidenti con l'età, ritardo della crescita, infezioni sinopolmonari ricorrenti e frequenza molto elevata di neoplasie maligne."},"nl":{"name":"Nijmegen-breuksyndroom","synonyms":["AT V1","Ataxie-teleangiëctasie, variant 1","Berlijn-breuksyndroom","Immuundeficiëntie - microcefalie - chromosomale instabiliteit-syndroom","Microcefalie - immuundeficiëntie - lymfoïde maligniteit-syndroom","NBS","Syndroom van Seemanova type 2"],"definition":"Een zeldzaam, genetisch syndroom van chromosomale instabiliteit, gekenmerkt door presentatie bij de geboorte met microcefalie, dysmorfe gelaatskenmerken merkbaarder worden met het ouder worden, groeiachterstand, recidiverende sinopulmonale infecties, en extreem hoge frequentie van maligniteiten."},"pt":{"name":"Síndrome de quebras de Nijmegen","synonyms":["Síndrome de imunodeficiência-microcefalia-instabilidade cromossómica","Síndrome de microcefalia-imunodeficiência-malignidade linfóide","Ataxia-telangiectasia, variante 1","NBS","Síndrome Seemanova tipo 2"],"definition":"Uma síndrome genética rara de instabilidade cromossómica cuja apresentação ao nascimento ocorre com microcefalia, características faciais dismórficas que se tornam mais evidentes com a idade, atraso no crescimento, infeções sinopulmonares recorrentes e frequência muito elevada de malignidade."},"pl":{"name":"Zespół Nijmegen","synonyms":["AT V1","Ataksja-telangiektazja, wariant 1","Berlin breakage syndrome","Małogłowie - Niedobór odporności - lymphoreticuloma","NBS","Niedobór odporności- małogłowie - niestabilność chromosomowa","Zespół Seemanova typu 2"]},"cs":{"name":"Nijmegen breakage syndrom","synonyms":["AT V1","Ataxia telangiectasia, varianta 1","Berlínský syndrom chromozomální instability","Syndrom zahrnující imunodeficit, mikrocefalii a chromozomální instabilitu","Syndrom zahrnující mikrocefalii, imunodeficit a lymforetikulom","NBS","Syndrom Seemanové, typ 2"]},"uk":{"name":"Синдром хромосомної нестабільності Ніймегена","synonyms":["AT V1","Атаксія-телеангіектазія, варіант 1","Синдром Берліна","Синдром імунодефіциту-мікроцефалії-хромосомної нестабільності","Синдром мікроцефалії-імунодефіциту-лімфоїдної злоякісної пухлини","NBS","Синдром Сіманова, тип 2"],"definition":"A rare, genetic chromosomal instability syndrome presenting at birth with microcephaly, dysmorphic facial features which become more noticeable with age, growth delay, recurring sinopulmonary infections and extremely high frequency of malignancies."},"zh":{"name":"Nijmegen breakage综合征","synonyms":["免疫缺陷-小头畸形-染色体不稳定综合征"]},"tr":{"name":"Nijmegen kırılma sendromu","synonyms":["NBS","AT V1","Berlin kırılma sendromu","Seemanova sendromu tip 2","Ataksi-telenjiektazi, varyant 1","Mikrosefali-immün yetmezlik-lenforetiküloma sendromu","İmmün yetmezlik-mikrosefali-kromozomal instabilite sendromu"]}},"xrefs":[{"source":"OMIM","code":"251260","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.31","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1925662580"},{"source":"MONDO","code":"0009623","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D049932","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0398791","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3904","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10067857","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":169346,"name":"DNA repair defect other than combined T-cell and B-cell immunodeficiencies","classifications":[156,195,233]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]}],"children":[],"genes":[{"symbol":"NBN","name":"nibrin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301355[PMID]","hgnc":"7652","ensembl":"ENSG00000104320","omim":"602667","loci":["8q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Worldwide","status":"Not yet validated","source":"20301355[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.7,"area":"Russian Federation","status":"Validated","source":"33488600[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":3.1,"area":"Poland","status":"Validated","source":"33488600[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":3.1,"area":"Czech Republic","status":"Validated","source":"33488600[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":2.6,"area":"Slovakia","status":"Validated","source":"33488600[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":2.3,"area":"Belarus","status":"Validated","source":"33488600[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":1.3,"area":"Ukraine","status":"Validated","source":"33488600[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011362","label":"Abnormal hair quantity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003220","label":"Abnormality of chromosome stability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002025","label":"Anal stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012732","label":"Anorectal anomaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001890","label":"Autoimmune hemolytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002002","label":"Deep philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000364","label":"Hearing abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005425","label":"Recurrent sinopulmonary infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100515","label":"Pollakisuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000492","label":"Abnormal eyelid morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003011","label":"Abnormality of the musculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002488","label":"Acute leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012191","label":"B-cell lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001480","label":"Freckling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009733","label":"Glioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002859","label":"Rhabdomyosarcoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012190","label":"T-cell lymphoma","frequency":"Occasional (29-5%)","criteria":null}]}}