{"Name":"Medullary sponge kidney","DiseaseID__c":"GARD:0000232","id":232,"encodedName":"medullary-sponge-kidney","IsDeleted":false,"Disease_Name_Full__c":"Medullary sponge kidney","Xref_IDs__c":"236443009; C0022681; C34751; D007691; MEDGEN:5970; MONDO:0015268; ORPHA:1309","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":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015268","Disease_Description__c":"Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics.","GARD_Name__c":"Medullary sponge kidney","GARD_Synonym__c":"cacchi-ricci disease; msk; precalicial canalicular ectasia","Curated_Disease_Description_Source__c":"GARD:0000232","Curated_Disease_Description__c":"Medullary sponge kidney (MSK) is a birth defect of tiny tubes (tubules) inside the kidneys. In MSK, tiny sacs called cysts form in the inner part of the kidney (the medulla), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. Many people with MSK have no symptoms, but others may have blood in the urine, kidney stones, and urinary tract infections. Rarely, MSK leads to more serious problems, such as chronic pain and kidney failure. The cause for MSK is unknown but some cases may run in families.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child and as an Adult","SourceID__c":"ORPHA:1309","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015268","ORPHANET_ID__c":"ORPHA:1309","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Riñón esponjoso medular","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"riñón esponjoso medular","Spanish_GARD_Synonym__c":"ectasia canalicular precalicial; enfermedad de cacchi-ricci; nefropatía medular quística","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":"Medullary sponge kidney (MSK) is a birth defect of tiny tubes (tubules) inside the kidneys. In MSK, tiny sacs called cysts form in the inner part of the kidney (the medulla), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. Many people with MSK have no symptoms, but others may have blood in the urine, kidney stones, and urinary tract infections. Rarely, MSK leads to more serious problems, such as chronic pain and kidney failure. The cause for MSK is unknown but some cases may run in families.","Curated_Disease_Description_Source__c":"GARD:0000232","GARD_Synonym__c":"cacchi-ricci disease; msk; precalicial canalicular ectasia","Name":"Medullary sponge kidney","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1309"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:1309"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000232","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0022681","Source__c":"C0022681","Xref__c":"C0022681"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=236443009","Source__c":"C0022681; MONDO:0015268","Xref__c":"236443009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C007691","Source__c":"C0022681; MONDO:0015268","Xref__c":"D007691"},{"URL__c":"https://www.orpha.net/en/disease/detail/1309","Source__c":"C0022681; MONDO:0015268; ORPHA:1309","Xref__c":"ORPHA:1309"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=5970","Source__c":"C0022681","Xref__c":"MEDGEN:5970"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34751","Source__c":"C0022681; MONDO:0015268","Xref__c":"C34751"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015268","Source__c":"GARD:0000232","Xref__c":"MONDO:0015268"},{"URL__c":"https://www.niddk.nih.gov/health-information/kidney-disease/children/medullary-sponge-kidney"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HNF1B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hnf1b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1309","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000787","HPO_Synonym__c":"Kidney stones; Renal calculi; Renal stones","HPO_Name__c":"Nephrolithiasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1309","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Overgrowth of only one side of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001528","HPO_Synonym__c":"Asymmetric limb hypertrophy; Asymmetric overgrowth","HPO_Name__c":"Hemihypertrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1309","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000790","HPO_Synonym__c":"Blood in urine","HPO_Name__c":"Hematuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1309","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008341","HPO_Synonym__c":"Renal tubular acidosis, type I","HPO_Name__c":"Distal renal tubular acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1309","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002150","HPO_Synonym__c":"Elevated urine calcium levels; Hypercalcinuria","HPO_Name__c":"Hypercalciuria","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["cacchi-ricci disease"," msk"," precalicial canalicular ectasia"]}