{"Name":"Familial juvenile hyperuricemic nephropathy type 2","DiseaseID__c":"GARD:0013461","id":13461,"encodedName":"familial-juvenile-hyperuricemic-nephropathy-type-2","IsDeleted":false,"Disease_Name_Full__c":"Familial juvenile hyperuricemic nephropathy type 2","Xref_IDs__c":"721840000; C2751310; C567760; DOID:0061119; MEDGEN:414347; MONDO:0013128; OMIM:613092; ORPHA:217330","USA_Estimate__c":"1,000","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":"1 to 8,000","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":4,"Description_Source__c":"MONDO:0013128","Disease_Description__c":"A rare autosomal dominant tubulointerstitial kidney disease (ADTKD) of childhood due to <i>REN</i> mutations and characterized by early onset hypoproliferative anemia, hyperuricemia, gout, and slowly progressive tubulointerstitial kidney disease.","GARD_Name__c":"Familial juvenile hyperuricemic nephropathy type 2","GARD_Synonym__c":"adtkd-ren; adtkd4; autosomal dominant tubulointerstitial kidney disease due to mutations in ren; early-onset hyperuricemia, anemia, and progressive kidney failure; familial juvenile hyperuricemic nephropathy caused by mutation in ren; fjhn type 2; hyperuricemic nephropathy, familial juvenile, type 2; ren familial juvenile hyperuricemic nephropathy; ren-associated familial juvenile hyperuricemic nephropathy; ren-associated fjhn; ren-associated kidney disease; ren-related autosomal dominant tubulointerstitial kidney disease; tubulointerstitial kidney disease, autosomal dominant, 4","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"REN-related kidney disease is an inherited condition that affects kidney function. This condition causes slowly progressive kidney disease that usually becomes apparent during childhood. As this condition progresses, the kidneys become less able to filter fluids and waste products from the body, resulting in kidney failure. Individuals with REN-related kidney disease typically require dialysis (to remove wastes from the blood) or a kidney transplant between ages 40 and 70. People with REN-related kidney disease sometimes have low blood pressure. They may also have mildly increased levels of potassium in their blood (hyperkalemia). In childhood, people with REN-related kidney disease develop a shortage of red blood cells (anemia), which can cause pale skin, weakness, and fatigue. In this disorder, anemia is usually mild and begins to improve during adolescence. Many individuals with this condition develop high blood levels of a waste product called uric acid. Normally, the kidneys remove uric acid from the blood and transfer it to urine so it can be excreted from the body. In REN-related kidney disease, the kidneys are unable to remove uric acid from the blood effectively. A buildup of uric acid can cause gout, which is a form of arthritis resulting from uric acid crystals in the joints. Individuals with REN-related kidney disease may begin to experience the signs and symptoms of gout during their twenties.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:217330","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013128","ORPHANET_ID__c":"ORPHA:217330","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hiperuricemia-anemia-insuficiencia renal","Spanish_Description_Source__c":"ORPHA:217330","Spanish_Description__c":"Es una enfermedad renal tubulointersticial autosómica dominante (ADTKD, por sus siglas en inglés) poco frecuente de la infancia debido a mutaciones en el gen <i>REN</i> y caracterizada por anemia hipoproliferativa de inicio precoz, hiperuricemia, gota y enfermedad renal tubulointersticial lentamente progresiva.","Spanish_Disease_Name__c":"síndrome de hiperuricemia-anemia-insuficiencia renal","Spanish_GARD_Synonym__c":"adtkd-ren","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":"REN-related kidney disease is an inherited condition that affects kidney function. This condition causes slowly progressive kidney disease that usually becomes apparent during childhood. As this condition progresses, the kidneys become less able to filter fluids and waste products from the body, resulting in kidney failure. Individuals with REN-related kidney disease typically require dialysis (to remove wastes from the blood) or a kidney transplant between ages 40 and 70. People with REN-related kidney disease sometimes have low blood pressure. They may also have mildly increased levels of potassium in their blood (hyperkalemia). In childhood, people with REN-related kidney disease develop a shortage of red blood cells (anemia), which can cause pale skin, weakness, and fatigue. In this disorder, anemia is usually mild and begins to improve during adolescence. Many individuals with this condition develop high blood levels of a waste product called uric acid. Normally, the kidneys remove uric acid from the blood and transfer it to urine so it can be excreted from the body. In REN-related kidney disease, the kidneys are unable to remove uric acid from the blood effectively. A buildup of uric acid can cause gout, which is a form of arthritis resulting from uric acid crystals in the joints. Individuals with REN-related kidney disease may begin to experience the signs and symptoms of gout during their twenties.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"adtkd-ren; adtkd4; autosomal dominant tubulointerstitial kidney disease due to mutations in ren; early-onset hyperuricemia, anemia, and progressive kidney failure; familial juvenile hyperuricemic nephropathy caused by mutation in ren; fjhn type 2; hyperuricemic nephropathy, familial juvenile, type 2; ren familial juvenile hyperuricemic nephropathy; ren-associated familial juvenile hyperuricemic nephropathy; ren-associated fjhn; ren-associated kidney disease; ren-related autosomal dominant tubulointerstitial kidney disease; tubulointerstitial kidney disease, autosomal dominant, 4","Name":"Familial juvenile hyperuricemic nephropathy type 2","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Rare Kidney Disease Foundation","Website__c":"https://www.rarekidney.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:217330"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:217330"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:217330"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:217330"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013461","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK53700","Source__c":"Gene Review","Xref__c":"NBK53700"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721840000","Source__c":"MONDO:0013128","Xref__c":"721840000"},{"URL__c":"https://www.omim.org/entry/613092","Source__c":"C2751310; MONDO:0013128; ORPHA:217330","Xref__c":"OMIM:613092"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567760","Source__c":"MONDO:0013128","Xref__c":"C567760"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=414347","Source__c":"C2751310","Xref__c":"MEDGEN:414347"},{"URL__c":"https://www.orpha.net/en/disease/detail/217330","Source__c":"C2751310; MONDO:0013128","Xref__c":"ORPHA:217330"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2751310","Source__c":"C2751310","Xref__c":"C2751310"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0061119","Source__c":"MONDO:0013128","Xref__c":"DOID:0061119"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013128","Source__c":"GARD:0013461","Xref__c":"MONDO:0013128"},{"URL__c":"https://medlineplus.gov/genetics/condition/ren-related-kidney-disease","Source__c":"GARD:0013461","Xref__c":"https://medlineplus.gov/genetics/condition/ren-related-kidney-disease"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"REN","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ren","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:613092","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:613092","Feature__r":{"HPO_Description__c":"Increased levels of protein in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000093","HPO_Synonym__c":"High urine protein levels; Protein in urine","HPO_Name__c":"Proteinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:613092","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:613092","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:613092","Feature__r":{"HPO_Description__c":"An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004719","HPO_Synonym__c":"Echogenic kidneys; Increased echogenicity of the renal parenchyma","HPO_Name__c":"Hyperechogenic kidneys","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613092","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:613092","Feature__r":{"HPO_Description__c":"Functional anomaly of the kidney persisting for at least three months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012622","HPO_Synonym__c":"Chronic kidney disease; CKD","HPO_Name__c":"Chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613092","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:613092","Feature__r":{"HPO_Description__c":"Segmental accumulation of scar tissue in individual (but not all) glomeruli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000097","HPO_Synonym__c":"Focal and segmental glomerular sclerosis; Focal and segmental glomerulosclerosis; focal glomerulosclerosis","HPO_Name__c":"Focal segmental glomerulosclerosis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["adtkd-ren"," adtkd4"," autosomal dominant tubulointerstitial kidney disease due to mutations in ren"," early-onset hyperuricemia, anemia, and progressive kidney failure"," familial juvenile hyperuricemic nephropathy caused by mutation in ren"," fjhn type 2"," hyperuricemic nephropathy, familial juvenile, type 2"," ren familial juvenile hyperuricemic nephropathy"," ren-associated familial juvenile hyperuricemic nephropathy"," ren-associated fjhn"," ren-associated kidney disease"," ren-related autosomal dominant tubulointerstitial kidney disease"," tubulointerstitial kidney disease, autosomal dominant, 4"]}