{"orpha":84090,"name":"Fibronectin glomerulopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GFND","Glomerulopathy with fibronectin deposits"],"definition":"A primary glomerular disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-84090/","orphanet_url":"https://www.orpha.net/en/disease/detail/84090","names":{"fr":{"name":"Glomérulopathie à dépôts de fibronectine","definition":"Néphropathie glomérulaire primitive caractérisée par une protéinurie, une acidose tubulaire de type IV, une hématurie microscopique et une hypertension artérielle. Elle peut conduire à une insuffisance rénale chronique terminale (IRCT) qui survient entre la deuxième et la sixième décade."},"de":{"name":"Fibronektin-Glomerulopathie","synonyms":["Glomerulopathie mit Fibronektin-Ablagerung (GFND)"],"definition":"Eine primäre glomeruläre Erkrankung, die durch Proteinurie, renale tubuläre Azidose vom Typ IV, mikroskopische Hämaturie und Hypertonie gekennzeichnet ist und im zweiten bis sechsten Lebensjahrzehnt zum Nierenversagen im Endstadium führen kann."},"es":{"name":"Glomerulopatía por fibronectina","synonyms":["GFND","Glomerulopatía con depósitos de fibronectina"],"definition":"Es una enfermedad glomerular primaria caracterizada por proteinuria, acidosis tubular renal tipo IV, hematuria microscópica e hipertensión que puede conducir a insuficiencia renal terminal entre la segunda a la sexta década de la vida."},"it":{"name":"Glomerulopatia da fibronectina","synonyms":["GFND","Glomerulopatia con depositi di fibronectina"],"definition":"Si tratta di una glomerulopatia primitiva, caratterizzata da proteinuria, acidosi tubulare renale di tipo IV, ematuria microscopica ed ipertensione, che possono esitare nell'insufficienza renale terminale tra la seconda e la sesta decade di vita."},"nl":{"name":"Fibronectine-glomerulopathie","synonyms":["GFND","Glomerulopathie met fibronectineafzettingen"],"definition":"Een primaire glomerulaire ziekte gekarakteriseerd door proteïnurie, renale tubulaire acidose type IV, microscopische hematurie en hypertensie die kan leiden tot eindstadium nierfalen in het tweede tot zesde levensdecennium."},"pt":{"name":"Glumerolopatia de fibronectina","synonyms":["Glomerulopatia com depósitos de fibronectina (GFND)"]},"pl":{"name":"Glomerulopatia fibronektynowa","synonyms":["GFND","Glomerulopatia z depozytami fibronektyny"]},"cs":{"name":"Fibronektinová glomerulopatie","synonyms":["GFND","Glomerulopatie s depozity fibronektinu"]},"uk":{"name":"Фібронектинова гломерулопатія","synonyms":["GFND","Гломерулопатія з відкладенням фібронектину"],"definition":"A primary glomerular disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life."},"zh":{"name":"纤连蛋白肾小球病","synonyms":["肾小球病伴纤连蛋白沉积"]},"tr":{"name":"Fibronektin glomerülopati","synonyms":["GFND","Fibronektin birikimi ile seyreden glomerulopati"]}},"xrefs":[{"source":"OMIM","code":"137950","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"601894","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N07.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"MF81","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1877494378"},{"source":"MONDO","code":"0007671","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536826","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3888104","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":183586,"name":"Genetic glomerular disease","classifications":[156]},{"orpha":93548,"name":"Glomerular disease","classifications":[188,233]}],"children":[],"genes":[{"symbol":"FN1","name":"fibronectin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18268355[PMID]","hgnc":"3778","ensembl":"ENSG00000115414","omim":"135600","loci":["2q35"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"10074583[PMID]","terms":[{"hpo":"HP:0100820","label":"Glomerulopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001966","label":"Mesangial abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002907","label":"Microscopic hematuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001342","label":"Cerebral hemorrhage","frequency":"Occasional (29-5%)","criteria":null}]}}