{"Name":"Familial vesicoureteral reflux","DiseaseID__c":"GARD:0017323","id":17323,"encodedName":"familial-vesicoureteral-reflux","IsDeleted":false,"Disease_Name_Full__c":"Familial vesicoureteral reflux","Xref_IDs__c":"763716008; C4706552; MEDGEN:1637583; MONDO:0017329; OMIMPS:193000; ORPHA:289365","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017329","Disease_Description__c":"Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.","GARD_Name__c":"Familial vesicoureteral reflux","GARD_Synonym__c":"familial vur; hereditary vesicoureteral reflux (disease)","Curated_Disease_Description_Source__c":"MONDO:0017329","Curated_Disease_Description__c":"Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:289365","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017329","ORPHANET_ID__c":"ORPHA:289365","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Reflujo vesicoureteral familiar","Spanish_Description_Source__c":"ORPHA:289365","Spanish_Description__c":"Es una malformación urogenital no sindrómica poco frecuente, caracterizada por una alta incidencia familiar de flujo de orina retrógrado desde la vejiga hacia el uréter y, a veces, a los riñones. Los afectados pueden ser asintomáticos o presentar infecciones urinarias recurrentes, a veces febriles, que en el caso de pielonefritis aguda pueden derivar en complicaciones graves (cicatriz renal, hipertensión arterial, insuficiencia renal). Es posible la remisión espontánea de esta anomalía.","Spanish_Disease_Name__c":"reflujo vesicoureteral familiar","Spanish_GARD_Synonym__c":"vur familiar","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":"Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.","Curated_Disease_Description_Source__c":"MONDO:0017329","GARD_Synonym__c":"familial vur; hereditary vesicoureteral reflux (disease)","Name":"Familial vesicoureteral reflux","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Kidney Foundation","Website__c":"https://www.kidney.org/"}],"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":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:289365"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1637583","Source__c":"C4706552","Xref__c":"MEDGEN:1637583"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS193000","Source__c":"MONDO:0017329","Xref__c":"OMIMPS:193000"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763716008","Source__c":"C4706552; MONDO:0017329","Xref__c":"763716008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706552","Source__c":"C4706552","Xref__c":"C4706552"},{"URL__c":"https://www.orpha.net/en/disease/detail/289365","Source__c":"C4706552; MONDO:0017329; ORPHA:289365","Xref__c":"ORPHA:289365"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017329","Source__c":"GARD:0017323","Xref__c":"MONDO:0017329"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TNXB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tnxb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ROBO2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SOX17","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Nephrology","Urologist","Pediatrics"],"Account":["Nephrology"]},"synonyms":["familial vur"," hereditary vesicoureteral reflux (disease)"]}