{"Name":"Autosomal dominant medullary cystic kidney disease with or without hyperuricemia","DiseaseID__c":"GARD:0010801","id":10801,"encodedName":"autosomal-dominant-medullary-cystic-kidney-disease-with-or-without-hyperuricemia","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant medullary cystic kidney disease with or without hyperuricemia","Xref_IDs__c":"444699000; C4511620; C536137; MEDGEN:1377523; MONDO:0008264; ORPHA:34149","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0008264","Disease_Description__c":"A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1).","GARD_Name__c":"Autosomal dominant medullary cystic kidney disease with or without hyperuricemia","GARD_Synonym__c":"adtkd; autosomal dominant interstitial kidney disease; autosomal dominant medullary cystic kidney disease; autosomal dominant tubulointerstitial kidney disease; familial juvenile hyperuricemic nephropathy; mckd; medullary cystic kidney disease","Curated_Disease_Description_Source__c":"GARD:0010801","Curated_Disease_Description__c":"Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a group of genetic kidney diseases that cause progressive loss of kidney function. Signs and symptoms of all forms of ADTKD include slowly worsening kidney disease. Urine exams of people with ADTKD show a bland urinary sediment (little blood or little or no protein). Kidney ultrasound examination is generally normal early in the disease course, but some people with ADTKD have cysts in the center of the kidneys (medullary cysts) that may be seen on an ultrasound. Inheritance of ADTKD is autosomal dominant, as the name implies. Most people with ADTKD have a family history of \"kidney disease\" (if not a family history of ADTKD specifically) or some of the other symptoms. The diagnosis of ADTKD may be suspected based on family history, symptoms, and laboratory tests, and it can be confirmed by genetic testing.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:34149","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008264","ORPHANET_ID__c":"ORPHA:34149","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad renal tubulointersticial autosómica dominante","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad renal tubulointersticial autosómica dominante","Spanish_GARD_Synonym__c":"adtkd; enfermedad renal quística medular; mckd; nefropatía hiperuricémica juvenil familiar","Category_Linearization__c":"ORPHA:93626","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":"Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a group of genetic kidney diseases that cause progressive loss of kidney function. Signs and symptoms of all forms of ADTKD include slowly worsening kidney disease. Urine exams of people with ADTKD show a bland urinary sediment (little blood or little or no protein). Kidney ultrasound examination is generally normal early in the disease course, but some people with ADTKD have cysts in the center of the kidneys (medullary cysts) that may be seen on an ultrasound. Inheritance of ADTKD is autosomal dominant, as the name implies. Most people with ADTKD have a family history of \"kidney disease\" (if not a family history of ADTKD specifically) or some of the other symptoms. The diagnosis of ADTKD may be suspected based on family history, symptoms, and laboratory tests, and it can be confirmed by genetic testing.","Curated_Disease_Description_Source__c":"GARD:0010801","GARD_Synonym__c":"adtkd; autosomal dominant interstitial kidney disease; autosomal dominant medullary cystic kidney disease; autosomal dominant tubulointerstitial kidney disease; familial juvenile hyperuricemic nephropathy; mckd; medullary cystic kidney disease","Name":"Autosomal dominant medullary cystic kidney disease with or without hyperuricemia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Rare Kidney Disease Foundation","Website__c":"https://www.rarekidney.org/"},{"Account_Name__c":"National Kidney Foundation","Website__c":"https://www.kidney.org/"},{"Account_Name__c":"American Association of Kidney Patients","Website__c":"https://www.aakp.org/"},{"Account_Name__c":"The Kidney Foundation of Canada","Website__c":"https://kidney.ca/"}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:34149"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:34149"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:34149"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:34149"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C4511620"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1356","Source__c":"Gene Review","Xref__c":"NBK1356"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=444699000","Source__c":"MONDO:0008264","Xref__c":"444699000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1377523","Source__c":"C4511620","Xref__c":"MEDGEN:1377523"},{"URL__c":"https://www.orpha.net/en/disease/detail/34149","Source__c":"C4511620; MONDO:0008264; ORPHA:34149","Xref__c":"ORPHA:34149"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4511620","Source__c":"C4511620","Xref__c":"C4511620"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536137","Source__c":"MONDO:0008264","Xref__c":"C536137"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=726018006","Source__c":"C4511620","Xref__c":"726018006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008264","Source__c":"GARD:0010801","Xref__c":"MONDO:0008264"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["adtkd"," autosomal dominant interstitial kidney disease"," autosomal dominant medullary cystic kidney disease"," autosomal dominant tubulointerstitial kidney disease"," familial juvenile hyperuricemic nephropathy"," mckd"," medullary cystic kidney disease"]}