{"orpha":906,"name":"Wiskott-Aldrich syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Eczema-thrombocytopenia-immunodeficiency syndrome","WAS"],"definition":"A primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-906/","orphanet_url":"https://www.orpha.net/en/disease/detail/906","names":{"fr":{"name":"Syndrome de Wiskott-Aldrich","synonyms":["Syndrome d'eczéma-thrombocytopénie-immunodéficience"],"definition":"Le syndrome de Wiskott-Aldrich (WAS) est un déficit immunitaire primitif caractérisé par une microthrombocytopénie, un eczéma, des infections et un risque accru de manifestations auto-immunes et/ou oncohématologiques."},"de":{"name":"Wiskott-Aldrich-Syndrom","synonyms":["Immundefekt kombiniert mit Thrombozytopenie und Ekzem"],"definition":"Das Wiskott-Aldrich-Syndrom (WAS) ist eine primäre Immunmangel-Erkrankung mit Mikrothrombozytopenie, Ekzemen, Infektionen und einem erhöhten Risiko für autoimmune Symptome und maligne Erkrankungen."},"es":{"name":"Síndrome de Wiskott-Aldrich","synonyms":["Síndrome de eczema-trombocitopenia-inmunodeficiencia","WAS"],"definition":"Es una inmunodeficiencia primaria caracterizada por microtrombocitopenia, eczema, infecciones y un mayor riesgo de manifestaciones autoinmunes y neoplasias."},"it":{"name":"Sindrome di Wiskott-Aldrich","synonyms":["Sindrome eczema-trombocitopenia-immunodeficienza","WAS"],"definition":"La sindrome di Wiskott-Aldrich (WAS) è una malattia da immunodeficienza primitiva, con microtrombocitopenia, eczema, infezioni e aumento del rischio di patologie autoimmuni e di tumori maligni."},"nl":{"name":"Syndroom van Wiskott-Aldrich","synonyms":["Eczeem - trombocytopenie - immuundeficiëntie-syndroom","WAS"],"definition":"Een primaire immuundeficiëntie gekarakteriseerd door microtrombocytopenie, eczeem, infecties en een verhoogd risico op auto-immune manifestaties en maligniteiten."},"pt":{"name":"Síndrome Wiskott-Aldrich","synonyms":["Síndrome de eczema-trombocitopenia-imunodeficiência"]},"pl":{"name":"Zespół Wiskotta i Aldricha","synonyms":["WAS","Zespół egzema-trombocytopenia-Niedobór odporności"],"definition":"Pierwotny niedobór odporności charakteryzujący się mikrotrombocytopenią, wypryskiem, infekcjami i zwiększonym ryzykiem wystąpienia objawów autoimmunologicznych oraz nowotworów."},"cs":{"name":"Wiskottův-Aldrichův syndrom","synonyms":["Syndrom zahrnující ekzém, trombocytopenii a imunodeficienci","WAS","Wiskott-Aldrichův syndrom"]},"uk":{"name":"Синдром Віскотта-Олдрича","synonyms":["Синдром екземи-тромбоцитопенії-імунодефіциту","WAS"],"definition":"A primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies."},"zh":{"name":"Wiskott-Aldrich综合征","synonyms":["湿疹-血小板减少-免疫缺陷综合征"]},"tr":{"name":"Wiskott-Aldrich sendromu","synonyms":["WAS","Egzama-trombositopeni-immün yetmezlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"301000","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"600903","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D82.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"3B62.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"168952525"},{"source":"MONDO","code":"0010518","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D014923","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0043194","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7895","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10047992","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":98456,"name":"Dense granule disease","classifications":[156,194]},{"orpha":183494,"name":"Genetic immune deficiency with skin involvement","classifications":[156]},{"orpha":79391,"name":"Immune deficiency with skin involvement","classifications":[187]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":506219,"name":"Rare disorder potentially indicated for hematopoietic stem cell transplant","classifications":[233]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":331217,"name":"Syndrome with combined immunodeficiency","classifications":[156,195]}],"children":[],"genes":[{"symbol":"WAS","name":"WASP actin nucleation promoting factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"12731","ensembl":"ENSG00000015285","omim":"300392","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Europe","status":"Validated","source":"European Medicines Agency 2012[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.18,"area":"France","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Switzerland","status":"Validated","source":"3065352[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.55,"area":"Norway","status":"Not yet validated","source":"11202238[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"Australia","status":"Validated","source":"9314356[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.03,"area":"Korea, Republic of","status":"Validated","source":"22787376[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"United States","status":"Validated","source":"7381651[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.0278,"area":"China","status":"Validated","source":"34103049[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011875","label":"Abnormal platelet morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006510","label":"Chronic pulmonary obstruction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011029","label":"Internal hemorrhage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000388","label":"Otitis media","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003010","label":"Prolonged bleeding time","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000246","label":"Sinusitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007420","label":"Spontaneous hematomas","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001879","label":"Abnormality of eosinophils","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002248","label":"Hematemesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002573","label":"Hematochezia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002037","label":"Inflammation of the large intestine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001935","label":"Microcytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000967","label":"Petechiae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000979","label":"Purpura","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011869","label":"Abnormal platelet function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000140","label":"Abnormality of the menstrual cycle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002488","label":"Acute 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(29-5%)","criteria":null},{"hpo":"HP:0100774","label":"Hyperostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000778","label":"Hypoplasia of the thymus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000491","label":"Keratitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006535","label":"Recurrent intrapulmonary hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001645","label":"Sudden cardiac death","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Occasional (29-5%)","criteria":null}]}}