{"Name":"Tubulointerstitial kidney disease, autosomal dominant, 2","DiseaseID__c":"GARD:0007002","id":7002,"encodedName":"tubulointerstitial-kidney-disease-autosomal-dominant-2","IsDeleted":false,"Disease_Name_Full__c":"Tubulointerstitial kidney disease, autosomal dominant, 2","Xref_IDs__c":"C123171; C1868139; DOID:0061118; MEDGEN:358137; MONDO:0020726; OMIM:174000; ORPHA:88949","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0020726","Disease_Description__c":"An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function.","GARD_Name__c":"Tubulointerstitial kidney disease, autosomal dominant, 2","GARD_Synonym__c":"adtkd-muc1; adtkd2; autosomal dominant medullary cystic kidney disease without hyperuricemia; autosomal dominant tubulointerstitial kidney disease due to mutations in muc1; mckd1; medullary cystic kidney disease 1; medullary cystic kidney disease type 1; medullary cystic kidney disease, autosomal dominant; muc1-related autosomal dominant medullary cystic kidney disease; muc1-related autosomal dominant tubulointerstitial kidney disease; muc1-related medullary cystic kidney disease; muci-related adtkd; mucin 1 related autosomal dominant tubulointerstitial kidney disease; polycystic kidneys, medullary type","Curated_Disease_Description_Source__c":"GARD:0007002","Curated_Disease_Description__c":"Medullary cystic kidney disease type 1 (MCKD1) is an inherited condition that affects the kidneys. It leads to scarring (fibrosis) and impaired function of the kidneys, usually beginning in adulthood. The kidneys filter fluid and waste products from the body. They also reabsorb needed nutrients and release them back into the blood. As MCKD1 progresses, the kidneys are less able to function, resulting in kidney failure. Declining kidney function in people with MCKD1 leads to the signs and symptoms of the condition. The features are variable, even among members of the same family. Many individuals with MCKD1 develop high blood pressure (hypertension), especially as kidney function worsens. Some develop high levels of a waste product called uric acid in the blood (hyperuricemia) because the damaged kidneys are unable to remove uric acid effectively. In a small number of affected individuals, the buildup of this waste product can cause gout, which is a form of arthritis resulting from uric acid crystals in the joints. Although the condition is named medullary cystic kidney disease, only about 40 percent of affected individuals have medullary cysts, which are fluid filled pockets found in a particular region of the kidney. When present, the cysts are usually found in the inner part of the kidney (the medullary region) or the border between the inner and outer parts (corticomedullary region). These cysts are visible by tests such as ultrasound or CT scan.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:88949","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020726","ORPHANET_ID__c":"ORPHA:88949","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad renal tubulointersticial autosómica dominante asociada a muc1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad renal tubulointersticial autosómica dominante asociada a muc1","Spanish_GARD_Synonym__c":"adtkd asociada a muc1; adtkd-muc1; enfermedad renal quística medular asociada a muc1; enfermedad renal quística medular tipo 1; mckd1; nefropatía quística medular tipo 1","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":"Medullary cystic kidney disease type 1 (MCKD1) is an inherited condition that affects the kidneys. It leads to scarring (fibrosis) and impaired function of the kidneys, usually beginning in adulthood. The kidneys filter fluid and waste products from the body. They also reabsorb needed nutrients and release them back into the blood. As MCKD1 progresses, the kidneys are less able to function, resulting in kidney failure. Declining kidney function in people with MCKD1 leads to the signs and symptoms of the condition. The features are variable, even among members of the same family. Many individuals with MCKD1 develop high blood pressure (hypertension), especially as kidney function worsens. Some develop high levels of a waste product called uric acid in the blood (hyperuricemia) because the damaged kidneys are unable to remove uric acid effectively. In a small number of affected individuals, the buildup of this waste product can cause gout, which is a form of arthritis resulting from uric acid crystals in the joints. Although the condition is named medullary cystic kidney disease, only about 40 percent of affected individuals have medullary cysts, which are fluid filled pockets found in a particular region of the kidney. When present, the cysts are usually found in the inner part of the kidney (the medullary region) or the border between the inner and outer parts (corticomedullary region). These cysts are visible by tests such as ultrasound or CT scan.","Curated_Disease_Description_Source__c":"GARD:0007002","GARD_Synonym__c":"adtkd-muc1; adtkd2; autosomal dominant medullary cystic kidney disease without hyperuricemia; autosomal dominant tubulointerstitial kidney disease due to mutations in muc1; mckd1; medullary cystic kidney disease 1; medullary cystic kidney disease type 1; medullary cystic kidney disease, autosomal dominant; muc1-related autosomal dominant medullary cystic kidney disease; muc1-related autosomal dominant tubulointerstitial kidney disease; muc1-related medullary cystic kidney disease; muci-related adtkd; mucin 1 related autosomal dominant tubulointerstitial kidney disease; polycystic kidneys, medullary type","Name":"Tubulointerstitial kidney disease, autosomal dominant, 2","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/"}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:88949"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1868139"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007002","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK153723","Source__c":"Gene Review","Xref__c":"NBK153723"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C123171","Source__c":"MONDO:0020726","Xref__c":"C123171"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=358137","Source__c":"C1868139","Xref__c":"MEDGEN:358137"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1868139","Source__c":"C1868139","Xref__c":"C1868139"},{"URL__c":"https://www.orpha.net/en/disease/detail/88949","Source__c":"C1868139; MONDO:0020726; ORPHA:88949","Xref__c":"ORPHA:88949"},{"URL__c":"https://www.omim.org/entry/174000","Source__c":"C1868139; MONDO:0020726; ORPHA:88949","Xref__c":"OMIM:174000"},{"URL__c":"https://medlineplus.gov/genetics/condition/medullary-cystic-kidney-disease-type-1","Source__c":"GARD:0007002","Xref__c":"https://medlineplus.gov/genetics/condition/medullary-cystic-kidney-disease-type-1"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0061118","Source__c":"MONDO:0020726","Xref__c":"DOID:0061118"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020726","Source__c":"GARD:0007002","Xref__c":"MONDO:0020726"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=726017001","Source__c":"C1868139","Xref__c":"726017001"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MUC1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/muc1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:174000","Feature__r":{"HPO_Description__c":"DIsruption and breaking up of the basement membrane of the tubules of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005583","HPO_Synonym__c":"Disintegration of the tubular basement membrane","HPO_Name__c":"Tubular basement membrane disintegration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174000","Feature__r":{"HPO_Description__c":"A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005576","HPO_Synonym__c":"Tubulointerstitial renal fibrosis","HPO_Name__c":"Tubulointerstitial fibrosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174000","Feature__r":{"HPO_Description__c":"Accumulation of scar tissue within the glomerulus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000096","HPO_Synonym__c":"Glomerulosclerosis","HPO_Name__c":"Glomerular sclerosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174000","Feature__r":{"HPO_Description__c":"A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001970","HPO_Synonym__c":"Interstitial nephritis; Nephritis, Tubulointerstitial","HPO_Name__c":"Tubulointerstitial nephritis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174000","Feature__r":{"HPO_Description__c":"Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001997","HPO_Synonym__c":"Gouty arthritis","HPO_Name__c":"Gout","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174000","Feature__r":{"HPO_Description__c":"A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003774","HPO_Synonym__c":"Chronic renal failure; End stage renal disease; End stage renal failure; End-stage renal disease; End-stage renal failure; Stage 5 chronic kidney disease","HPO_Name__c":"Stage 5 chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174000","Feature__r":{"HPO_Description__c":"An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012213","HPO_Synonym__c":"Decreased GFR; Impaired renal creatinine clearance; Reduced creatinine clearance","HPO_Name__c":"Decreased glomerular filtration rate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174000","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174000","Feature__r":{"HPO_Description__c":"Hypoplasia of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000089","HPO_Synonym__c":"Hypoplastic kidney; Hypoplastic kidneys; Small kidneys; Underdeveloped kidneys","HPO_Name__c":"Renal hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174000","Feature__r":{"HPO_Description__c":"A reduction in the ability of the kidneys to remove uric acid from the serum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004732","HPO_Synonym__c":"Uric acid fractional excretion decreased","HPO_Name__c":"Impaired renal uric acid clearance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174000","Feature__r":{"HPO_Description__c":"The presence of multiple cysts at the border between the renal cortex and medulla.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000108","HPO_Synonym__c":"Corticomedullary renal cysts","HPO_Name__c":"Renal corticomedullary cysts","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174000","Feature__r":{"HPO_Description__c":"Low Blood Pressure, vascular hypotension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002615","HPO_Synonym__c":"Arterial hypotension; Low blood pressure","HPO_Name__c":"Hypotension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174000","Feature__r":{"HPO_Description__c":"An increased amount of creatinine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003259","HPO_Synonym__c":"Elevated creatinine; Elevated serum creatinine; High blood creatinine level; Increased creatinine; Increased serum creatinine","HPO_Name__c":"Elevated circulating creatinine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:174000","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174000","Feature__r":{"HPO_Description__c":"A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000127","HPO_Synonym__c":"Loss of salt in urine; Renal salt-wasting; Salt wasting; Salt-wasting","HPO_Name__c":"Renal salt wasting","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:174000","Feature__r":{"HPO_Description__c":"Atrophy of the cortex of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002048","HPO_Name__c":"Renal cortical atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174000","Feature__r":{"HPO_Description__c":"The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000092","HPO_Synonym__c":"Renal tubular cell atrophy; Tubular atrophy","HPO_Name__c":"Renal tubular atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174000","Feature__r":{"HPO_Description__c":"An abnormally high level of uric acid in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002149","HPO_Synonym__c":"High blood uric acid level; Hyperuricaemia","HPO_Name__c":"Hyperuricemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:174000","Feature__r":{"HPO_Description__c":"Atrophy of the cortex of the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002120","HPO_Synonym__c":"Cerebral cortex atrophy; Cortical atrophy; Decrease in size of the outer layer of the brain due to loss of brain cells","HPO_Name__c":"Cerebral cortical atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology"],"Specialist":["Genetics","Nephrology"],"Account":["Nephrology"]},"synonyms":["adtkd-muc1"," adtkd2"," autosomal dominant medullary cystic kidney disease without hyperuricemia"," autosomal dominant tubulointerstitial kidney disease due to mutations in muc1"," mckd1"," medullary cystic kidney disease 1"," medullary cystic kidney disease type 1"," medullary cystic kidney disease, autosomal dominant"," muc1-related autosomal dominant medullary cystic kidney disease"," muc1-related autosomal dominant tubulointerstitial kidney disease"," muc1-related medullary cystic kidney disease"," muci-related adtkd"," mucin 1 related autosomal dominant tubulointerstitial kidney disease"," polycystic kidneys, medullary type"]}