{"Name":"Infundibulopelvic stenosis-multicystic kidney syndrome","DiseaseID__c":"GARD:0003005","id":3005,"encodedName":"infundibulopelvic-stenosis-multicystic-kidney-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Infundibulopelvic stenosis-multicystic kidney syndrome","Xref_IDs__c":"725905005; C1832949; C535528; MEDGEN:318751; MONDO:0010971; OMIM:600989","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0010971","Disease_Description__c":"Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging.","GARD_Name__c":"Infundibulopelvic stenosis-multicystic kidney syndrome","GARD_Synonym__c":"infundibulopelvic dysgenesis; infundibulopelvic stenosis multicystic kidney syndrome","Curated_Disease_Description_Source__c":"MONDO:0010971","Curated_Disease_Description__c":"Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010971","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging.","Curated_Disease_Description_Source__c":"MONDO:0010971","GARD_Synonym__c":"infundibulopelvic dysgenesis; infundibulopelvic stenosis multicystic kidney syndrome","Name":"Infundibulopelvic stenosis-multicystic kidney syndrome","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/600989","Source__c":"C1832949; MONDO:0010971","Xref__c":"OMIM:600989"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=318751","Source__c":"C1832949","Xref__c":"MEDGEN:318751"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832949","Source__c":"C1832949","Xref__c":"C1832949"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535528","Source__c":"MONDO:0010971","Xref__c":"C535528"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725905005","Source__c":"C1832949; MONDO:0010971","Xref__c":"725905005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010971","Source__c":"GARD:0003005","Xref__c":"MONDO:0010971"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:600989","Feature__r":{"HPO_Description__c":"Microscopic hematuria detected by dipstick or microscopic examination of the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002907","HPO_Synonym__c":"Microhematuria; Occult hematuria; Small amount of blood in urine","HPO_Name__c":"Microscopic hematuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:600989","Feature__r":{"HPO_Description__c":"Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000003","HPO_Synonym__c":"Multicystic dysplastic kidney; Multicystic kidneys; Multicystic renal dysplasia","HPO_Name__c":"Multicystic kidney dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600989","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["infundibulopelvic dysgenesis"," infundibulopelvic stenosis multicystic kidney syndrome"]}