{"orpha":2795,"name":"Fowler urethral sphincter dysfunction syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Fowler syndrome","Fowler-Christmas-Chapple syndrome"],"definition":"A rare urogenital disease characterized by otherwise unexplained chronic urinary retention of more than 1 liter of sterile urine on catheterization, an asensitive bladder with loss of urge to void, and no help of straining. Poor tolerance of self-catheterization is typically reported. The condition occurs in women between menarche and menopause.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2795/","orphanet_url":"https://www.orpha.net/en/disease/detail/2795","names":{"fr":{"name":"Syndrome de dysfonctionnement du sphincter urétral de Fowler","synonyms":["Syndrome de Fowler","Syndrome de Fowler-Christmas-Chapple"],"definition":"Maladie urogénitale rare caractérisée par une rétention urinaire chronique inexpliquée de plus d'un litre d'urine stérile lors du sondage, une vessie non sensible à l'envie d'uriner et des efforts nécessaires pour expulser l'urine. Une mauvaise tolérance à l'auto-cathétérisme est généralement rapportée. La maladie touche les femmes entre la ménarche et la ménopause."},"de":{"name":"Fowler-Syndrom der Dysfunktion des urethralen Sphinkters","synonyms":["Fowler-Christmas-Chapple-Syndrom"],"definition":"Eine seltene urogenitale Erkrankung, die durch eine ansonsten unerklärliche chronische Harnretention von mehr als 1 Liter sterilem Urin bei Katheterisierung, eine unempfindliche Blase mit Verlust des Harndrangs und Anstrengung beim Wasserlassen gekennzeichnet ist. Im Allgemeinen wird eine schlechte Verträglichkeit des Selbstkatheterismus berichtet. Die Erkrankung tritt bei Frauen zwischen der Menarche und der Menopause auf."},"es":{"name":"Síndrome de ovarios poliquísticos-disfunción del esfínter uretral","synonyms":["Síndrome de Fowler-Christmas-Chapple"],"definition":"Es una enfermedad urogenital poco frecuente caracterizada por una retención urinaria crónica inexplicable de más de 1 litro de orina estéril en el catéter, vejiga neurógena con pérdida de la necesidad de orinar e incontinencia de esfuerzo. Por lo general, se ha descrito una baja tolerancia al autocateterismo. La afección afecta a mujeres entre la menarquia y la menopausia."},"it":{"name":"Disfunzione dello sfintere uretrale di Fowler","synonyms":["Sindrome di Fowler-Christmas-Chapple"],"definition":"Si tratta di una malattia urogenitale rara, caratterizzata da ritenzione urinaria cronica di eziologia non nota, con oltre 1 litro di urina sterile alla cateterizzazione, vescica non sensibile con perdita dello stimolo minzionale e sforzo minzionale non produttivo. In genere i pazienti presentano una scarsa tolleranza all'auto-cateterismo. La malattia colpisce le femmine tra il menarca e la menopausa."},"nl":{"name":"Polycystische ovaria - urethrale sfincterdisfunctie-syndroom","synonyms":["Syndroom van Fowler-Christmas-Chapple"],"definition":"Een zeldzame urogenitale aandoening, gekarakteriseerd door onverklaarbare chronische urineretentie van meer dan 1 liter steriele urine bij katheterisatie, een ongevoelige blaas met verlies van mictiedrang, en geen ondersteuning door inspanning. Doorgaans wordt weinig tolerantie voor zelf-katheterisatie gerapporteerd. De aandoening komt voor bij vrouwen tussen menarche en menopauze."},"pt":{"name":"Síndrome de disfunção do esfíncter uretral Fowler","synonyms":["Síndrome Fowler","Síndrome Fowler-Christmas-Chapele"]},"pl":{"name":"Policystyczne jajniki - dysfunkcja zwieracza cewki moczowej","synonyms":["Zespół Fowlera, Christmasa i Chapple'a"]},"cs":{"name":"Syndrom zahrnující polycystická ovaria a dysfunkci svěrače uretry","synonyms":["Syndrom Fowlerové"]},"uk":{"name":"Синдром дисфункції сфінктера уретри Фаулера","synonyms":["Синдром Фаулера","Синдром Фаулера-Крістмаса-Чеппела"],"definition":"A rare urogenital disease characterized by otherwise unexplained chronic urinary retention of more than 1 liter of sterile urine on catheterization, an asensitive bladder with loss of urge to void, and no help of straining. Poor tolerance of self-catheterization is typically reported. The condition occurs in women between menarche and menopause."},"zh":{"name":"Fowler尿道括约肌功能失调综合征","synonyms":["Fowler-Christmas-Chapple综合征"]},"tr":{"name":"Fowler üretral sfinkter disfonksiyon sendromu","synonyms":["Fowler sendromu","Fowler-Christmas-Chapple sendromu"]}},"xrefs":[{"source":"ICD-10","code":"N36.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GC01.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MeSH","code":"C537271","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931462","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2365","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10071718","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":101433,"name":"Rare urogenital disease"},"parents":[{"orpha":101433,"name":"Rare urogenital disease","classifications":[185]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":33.0,"area":"Worldwide","status":"Validated","source":"3147005[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3147005[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-10-31","source":"3147005[PMID]","terms":[{"hpo":"HP:0000795","label":"Abnormality of the urethra","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100518","label":"Dysuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000876","label":"Oligomenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000016","label":"Urinary retention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000137","label":"Abnormality of the ovary","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000141","label":"Amenorrhea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000132","label":"Menorrhagia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Very rare (<4-1%)","criteria":null}]}}