{"Name":"Polycystic ovaries-urethral sphincter dysfunction syndrome","DiseaseID__c":"GARD:0002365","id":2365,"encodedName":"polycystic-ovaries-urethral-sphincter-dysfunction-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Polycystic ovaries-urethral sphincter dysfunction syndrome","Xref_IDs__c":"C2931462; C537271; MEDGEN:419813; MONDO:0017200; ORPHA:2795","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0017200","Disease_Description__c":"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.","GARD_Name__c":"Polycystic ovaries-urethral sphincter dysfunction syndrome","GARD_Synonym__c":"fowler christmas chapple syndrome; fowler urethral sphincter dysfunction syndrome; fowler-christmas-chapple syndrome; fowler's syndrome; polycystic ovaries urethral sphincter dysfunction; voiding dysfunction and polycystic ovaries","Curated_Disease_Description_Source__c":"GARD:0002365","Curated_Disease_Description__c":"Fowler urethral sphincter dysfunction syndrome, or Fowler syndrome, mainly affects young women and leads to the inability to empty the bladder (urinary retention). Many women have no other symptoms, although some women experience stomach pain. Fowler syndrome is caused by spasms of the external urethral sphincter, a band of muscle that opens and closes at the exit of the bladder. The cause is unknown, but it has been known to occur after a surgical procedure, childbirth, opiate use, or other medical condition. Fowler syndrome is difficult to diagnose, but many women with Fowler syndrome have abnormal electrical activity on a specialized test called concentric needle electromyography.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:2795","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017200","ORPHANET_ID__c":"ORPHA:2795","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ovarios poliquísticos-disfunción del esfínter uretral","Spanish_Description_Source__c":"ORPHA:2795","Spanish_Description__c":"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.","Spanish_Disease_Name__c":"síndrome de ovarios poliquísticos-disfunción del esfínter uretral","Spanish_GARD_Synonym__c":"síndrome de fowler-christmas-chapple","Category_Linearization__c":"ORPHA:101433","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Fowler urethral sphincter dysfunction syndrome, or Fowler syndrome, mainly affects young women and leads to the inability to empty the bladder (urinary retention). Many women have no other symptoms, although some women experience stomach pain. Fowler syndrome is caused by spasms of the external urethral sphincter, a band of muscle that opens and closes at the exit of the bladder. The cause is unknown, but it has been known to occur after a surgical procedure, childbirth, opiate use, or other medical condition. Fowler syndrome is difficult to diagnose, but many women with Fowler syndrome have abnormal electrical activity on a specialized test called concentric needle electromyography.","Curated_Disease_Description_Source__c":"GARD:0002365","GARD_Synonym__c":"fowler christmas chapple syndrome; fowler urethral sphincter dysfunction syndrome; fowler-christmas-chapple syndrome; fowler's syndrome; polycystic ovaries urethral sphincter dysfunction; voiding dysfunction and polycystic ovaries","Name":"Polycystic ovaries-urethral sphincter dysfunction syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Association for Continence (NAFC)","Website__c":"https://nafc.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:2795"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2795"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2795"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419813","Source__c":"C2931462","Xref__c":"MEDGEN:419813"},{"URL__c":"https://www.orpha.net/en/disease/detail/2795","Source__c":"C2931462; MONDO:0017200; ORPHA:2795","Xref__c":"ORPHA:2795"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537271","Source__c":"MONDO:0017200","Xref__c":"C537271"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931462","Source__c":"C2931462","Xref__c":"C2931462"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017200","Source__c":"GARD:0002365","Xref__c":"MONDO:0017200"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=700242002","Source__c":"C2931462","Xref__c":"700242002"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2795","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000147","HPO_Synonym__c":"Polycystic ovary; Sclerocystic ovaries","HPO_Name__c":"Polycystic ovaries","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2795","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Loss of the ability to control the urinary bladder leading to involuntary urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000020","HPO_Synonym__c":"Bladder incontinence; Loss of bladder control","HPO_Name__c":"Urinary incontinence","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2795","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000141","HPO_Synonym__c":"Abnormal absence of menstruation","HPO_Name__c":"Amenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2795","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inability to completely empty the urinary bladder during the process of urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000016","HPO_Synonym__c":"Increased post-void residual urine volume","HPO_Name__c":"Urinary retention","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2795","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal results of investigations using electromyography (EMG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003457","HPO_Synonym__c":"Abnormal electromyography finding; Abnormal EMG; Electromyogram abnormal; EMG abnormalities","HPO_Name__c":"EMG abnormality","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:2795","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Infrequent menses (less than 6 per year or more than 35 days between cycles).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000876","HPO_Synonym__c":"Light or infrequent menstrual periods","HPO_Name__c":"Oligomenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2795","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000795","HPO_Synonym__c":"Urethra issue","HPO_Name__c":"Abnormality of the urethra","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2795","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000132","HPO_Synonym__c":"Abnormally heavy bleeding during menstruation; Abnormally heavy periods; Hypermenorrhea","HPO_Name__c":"Menorrhagia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2795","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Painful or difficult urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100518","HPO_Synonym__c":"Painful or difficult urination","HPO_Name__c":"Dysuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2795","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001007","HPO_Synonym__c":"Excessive hairiness","HPO_Name__c":"Hirsutism","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2795","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the ovary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000137","HPO_Synonym__c":"Abnormality of the ovaries; Abnormality of the ovary","HPO_Name__c":"Abnormality of the ovary","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2795","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001061","HPO_Synonym__c":"Acne","HPO_Name__c":"Acne","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Urogenital Disorders"],"Specialist":["Urologist","Pediatrics"]},"synonyms":["fowler christmas chapple syndrome"," fowler urethral sphincter dysfunction syndrome"," fowler-christmas-chapple syndrome"," fowler's syndrome"," polycystic ovaries urethral sphincter dysfunction"," voiding dysfunction and polycystic ovaries"]}