{"Name":"Double uterus-hemivagina-renal agenesis syndrome","DiseaseID__c":"GARD:0001910","id":1910,"encodedName":"double-uterus-hemivagina-renal-agenesis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Double uterus-hemivagina-renal agenesis syndrome","Xref_IDs__c":"722431007; C1860549; C566010; MEDGEN:348132; MONDO:0008636; OMIM:192050; ORPHA:3411","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0008636","Disease_Description__c":"A rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). Fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present.","GARD_Name__c":"Double uterus-hemivagina-renal agenesis syndrome","GARD_Synonym__c":"double uterus and obstructed hemivagina syndrome; herlyn-werner syndrome; obstructed hemivagina and ipsilateral renal anomaly; ohvira syndrome; uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis; wunderlich syndrome","Curated_Disease_Description_Source__c":"MONDO:0008636","Curated_Disease_Description__c":"A rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). Fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:3411","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008636","ORPHANET_ID__c":"ORPHA:3411","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de útero doble-hemivagina-agenesia renal","Spanish_Description_Source__c":"ORPHA:3411","Spanish_Description__c":"Es una anomalía urogenital congénita poco frecuente caracterizada por la presencia de un útero doble (didelfo, bicorne o septo-completo o parcial), obstrucción cervicovaginal unilateral (hemivagina obstruida -comunicante, no comunicante o septada- y atresia cervical unilateral) y anomalías renales ipsilaterales (agenesia renal y/o otras anomalías del tracto urinario). Las pacientes suelen ser diagnosticadas en la pubertad después de la menarquia debido a intensa dismenorrea recurrente, dolor pélvico crónico, secreción mucopurulenta fétida, manchado y sangrado intermenstrual (dependiendo de la existencia de comunicaciones uterinas o vaginales). También puede haber asociar, dispareunia y una masa abdominal, pélvica o vaginal palpable (mucocolpos o piocolpos). Traducción realizada con la versión gratuita del traductor www.DeepL.com/Translator","Spanish_Disease_Name__c":"síndrome de útero doble-hemivagina-agenesia renal","Spanish_GARD_Synonym__c":"anomalía renal ipsilateral y hemivagina obstruida; síndrome de doble útero y hemivagina obstruida; síndrome de herlyn-werner-wunderlich; síndrome ohvira","Category_Linearization__c":"ORPHA:93890","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":"A rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). Fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present.","Curated_Disease_Description_Source__c":"MONDO:0008636","GARD_Synonym__c":"double uterus and obstructed hemivagina syndrome; herlyn-werner syndrome; obstructed hemivagina and ipsilateral renal anomaly; ohvira syndrome; uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis; wunderlich syndrome","Name":"Double uterus-hemivagina-renal agenesis syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"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":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3411"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3411"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:3411"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566010","Source__c":"MONDO:0008636","Xref__c":"C566010"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722431007","Source__c":"MONDO:0008636","Xref__c":"722431007"},{"URL__c":"https://www.omim.org/entry/192050","Source__c":"C1860549; MONDO:0008636; ORPHA:3411","Xref__c":"OMIM:192050"},{"URL__c":"https://www.orpha.net/en/disease/detail/3411","Source__c":"C1860549; MONDO:0008636","Xref__c":"ORPHA:3411"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=348132","Source__c":"C1860549","Xref__c":"MEDGEN:348132"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1860549","Source__c":"C1860549","Xref__c":"C1860549"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008636","Source__c":"GARD:0001910","Xref__c":"MONDO:0008636"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3411","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003762","HPO_Synonym__c":"Didelphic uteri; Didelphic uterus; Didelphyc uterus; Doubling of uterus; Duplex uterus; Duplicated uterus; Duplication of uterus; Uterine didelphis; Uterine didelphys; Uterus didelphis; Uterus didelphus; Uterus duplex","HPO_Name__c":"Uterus didelphys","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3411","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Agenesis, that is, failure of the kidney to develop during embryogenesis and development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000104","HPO_Synonym__c":"Absent kidney; Missing kidney; Renal aplasia","HPO_Name__c":"Renal agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3411","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bleeding at irregular intervals.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100608","HPO_Synonym__c":"Abnormal uterus bleeding; Intermenstrual bleeding; Menstrual spotting","HPO_Name__c":"Metrorrhagia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3411","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030711","HPO_Name__c":"Hydrocolpos","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3411","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001623","HPO_Synonym__c":"Breech presentation at birth; Feet or buttocks of fetus positioned near opening of uterus","HPO_Name__c":"Breech presentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3411","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008670","HPO_Name__c":"Partial vaginal septum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3411","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012532","HPO_Synonym__c":"Chronic pain; Long-lasting pain","HPO_Name__c":"Chronic pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3411","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3411","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012888","HPO_Synonym__c":"Abnormality of the uterine cervix","HPO_Name__c":"Abnormal uterine cervix morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3411","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3411","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Recurrent or persistent genital pain associated with sexual intercourse.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030016","HPO_Name__c":"Dyspareunia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3411","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Pain during menstruation that interferes with daily activities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100607","HPO_Synonym__c":"Painful menstruation","HPO_Name__c":"Dysmenorrhea","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Nephrology","Obstetrics / Gynecology","Urologist","Pediatrics"],"Account":["Nephrology"]},"synonyms":["double uterus and obstructed hemivagina syndrome"," herlyn-werner syndrome"," obstructed hemivagina and ipsilateral renal anomaly"," ohvira syndrome"," uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis"," wunderlich syndrome"]}