{"Name":"Progressive hereditary glomerulonephritis without deafness","DiseaseID__c":"GARD:0016772","id":16772,"encodedName":"progressive-hereditary-glomerulonephritis-without-deafness","IsDeleted":false,"Disease_Name_Full__c":"Progressive hereditary glomerulonephritis without deafness","Xref_IDs__c":"236419006; 703310005; C0403443; C562889; MEDGEN:98012; MONDO:0008071; OMIM:161900; ORPHA:88659","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:88659","Disease_Description__c":"A rare, genetic hypertension characterized by an adult onset of increased blood pressure associated with nephropathy progressing to end-stage renal disease. Renal biopsy may show interstitial fibrosis, glomerulosclerosis and mild tubular atrophy. Increased serum creatinine and proteinuria have also been reported.","GARD_Name__c":"Progressive hereditary glomerulonephritis without deafness","GARD_Synonym__c":"autosomal dominant progressive nephropathy with hypertension; familial nephropathy; nephritis, familial, without deafness or ocular defect; nephropathy-hypertension; nephropathy, familial; renal failure, adult-onset; renal failure, progressive, with hypertension; rfh1","Curated_Disease_Description_Source__c":"ORPHA:88659","Curated_Disease_Description__c":"A rare, genetic hypertension characterized by an adult onset of increased blood pressure associated with nephropathy progressing to end-stage renal disease. Renal biopsy may show interstitial fibrosis, glomerulosclerosis and mild tubular atrophy. Increased serum creatinine and proteinuria have also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:88659","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008071","ORPHANET_ID__c":"ORPHA:88659","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Nefropatía progresiva con hipertensión autosómica dominante","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"nefropatía progresiva con hipertensión autosómica dominante","Spanish_GARD_Synonym__c":null,"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":"A rare, genetic hypertension characterized by an adult onset of increased blood pressure associated with nephropathy progressing to end-stage renal disease. Renal biopsy may show interstitial fibrosis, glomerulosclerosis and mild tubular atrophy. Increased serum creatinine and proteinuria have also been reported.","Curated_Disease_Description_Source__c":"ORPHA:88659","GARD_Synonym__c":"autosomal dominant progressive nephropathy with hypertension; familial nephropathy; nephritis, familial, without deafness or ocular defect; nephropathy-hypertension; nephropathy, familial; renal failure, adult-onset; renal failure, progressive, with hypertension; rfh1","Name":"Progressive hereditary glomerulonephritis without deafness","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Kidney Foundation","Website__c":"https://www.kidney.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:88659"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562889","Source__c":"MONDO:0008071","Xref__c":"C562889"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=703310005","Source__c":"MONDO:0008071","Xref__c":"703310005"},{"URL__c":"https://www.omim.org/entry/161900","Source__c":"C0403443; MONDO:0008071; ORPHA:88659","Xref__c":"OMIM:161900"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98012","Source__c":"C0403443","Xref__c":"MEDGEN:98012"},{"URL__c":"https://www.orpha.net/en/disease/detail/88659","Source__c":"C0403443; MONDO:0008071","Xref__c":"ORPHA:88659"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0403443","Source__c":"C0403443","Xref__c":"C0403443"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=236419006","Source__c":"C0403443","Xref__c":"236419006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008071","Source__c":"GARD:0016772","Xref__c":"MONDO:0008071"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:161900","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:161900","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:161900","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:161900","Feature__r":{"HPO_Description__c":"The presence of inflammation affecting the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000123","HPO_Synonym__c":"Kidney inflammation","HPO_Name__c":"Nephritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:161900","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:161900","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:161900","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology"],"Specialist":["Genetics","Nephrology"],"Account":["Nephrology"]},"synonyms":["autosomal dominant progressive nephropathy with hypertension"," familial nephropathy"," nephritis, familial, without deafness or ocular defect"," nephropathy-hypertension"," nephropathy, familial"," renal failure, adult-onset"," renal failure, progressive, with hypertension"," rfh1"]}