{"orpha":217330,"name":"REN-related autosomal dominant tubulointerstitial kidney disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["ADTKD-REN","FJHN type 2","Familial juvenile hyperuricemic nephropathy type 2","REN-associated FJHN","REN-associated familial juvenile hyperuricemic nephropathy","REN-associated kidney disease"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-217330/","orphanet_url":"https://www.orpha.net/en/disease/detail/217330","names":{"fr":{"name":"Néphropathie tubulo-intersitielle autosomique dominante associée à REN","synonyms":["ADTKD-REN","FJHN associé à REN","FJHN type 2","Néphropathie hyperuricémique juvénile familiale associée à REN","Néphropathie hyperuricémique juvénile familiale type 2"],"definition":"Néphropathie tubulo-interstitielle infantile rare autosomique dominante (NTIAD) due à des mutations du gène <i>REN</i> et caractérisée par une anémie hypoproliférative à début précoce, une hyperuricémie, une goutte et une néphropathie tubulo-interstitielle à progression lente."},"de":{"name":"Nierenkrankheit, tubulointerstitielle, autosomal-dominante, REN-assoziierte","synonyms":["REN-assoziierte Nierenkrankheit","REN-assoziierte familiäre juvenile hyperurikämische Nephropathie","ADTKD-REN","FJHN Typ 2","Nephropathie, familiäre hyperurikämische juvenile, Typ 2","REN-assoziierte FJHN"],"definition":"Eine seltene autosomal-dominante tubulointerstitielle Nierenerkrankung (ADTKD) im Kindesalter, die auf Mutationen im <i>REN</i>-Gen zurückzuführen ist und durch eine früh einsetzende hypoproliferative Anämie, Hyperurikämie, Gicht und eine langsam fortschreitende tubulointerstitielle Nierenerkrankung gekennzeichnet ist."},"es":{"name":"Síndrome de hiperuricemia-anemia-insuficiencia renal","synonyms":["ADTKD-REN"],"definition":"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."},"it":{"name":"Iperuricemia - anemia - insufficienza renale","synonyms":["FJHN associata a REN","FJHN, tipo 2","Malattia renale associata a REN","Nefropatia iperuricemica giovanile familiare associata a REN","Nefropatia iperuricemica giovanile familiare, tipo 2"]},"nl":{"name":"REN-gerelateerde autosomaal dominante tubulo-interstitiële nierziekte","synonyms":["ADTKD-REN","FJHN type 2","Familiale juveniele hyperurikemische nefropathie type 2","REN-geassocieerde FJHN","REN-geassocieerde familiale juveniele hyperurikemische nefropathie","REN-geassocieerde nierziekte"],"definition":"Een zeldzame autosomaal dominante tubulo-interstitiële aandoening van nier (ADTKD) in de kindertijd door <i>REN</i>-mutaties, gekenmerkt door vroeg optredende hypoproliferatieve anemie, hyperurikemie, jicht, en traag progressieve tubulo-interstitiële nierziekte."},"pt":{"name":"Doença renal tubulointersticial autossómica dominante REN-relacionada","synonyms":["Hiperuricemia-anemia-insuficiência renal"],"definition":"Doença renal tubulointersticial rara autossómica dominante (ADTKD) na infância devido a mutações em REN e caracterizada por anemia hipoproliferativa de início precoce, hiperuricemia, gota e doença renal tubulointersticial com progressão lenta."},"pl":{"name":"Hiperurykemia - niedokrwistość - niewydolność nerek","synonyms":["FJHN typu 2","REN związana z rodzinną młodzieńczą nefropatią hiperurykemiczną","REN związane z FJHN","REN związane z choroba nerek","Rodzinna młodzieńcza nefropatia hiperurykemiczna typu 2"]},"cs":{"name":"Syndrom zahrnující hyperurikémii, anémii a renální selhání","synonyms":["FJHN typ 2","Familiární juvenilní hyperurikemická nefropatie, typ 2","REN-asociovaná FJHN","REN-asociovaná familiární juvenilní hyperurikemická nefropatie","REN-asociované onemocnění ledvin"]},"uk":{"name":"Повязане з REN аутосомно-домінантне тубулоінтерстиціальне захворювання нирок","synonyms":["ADTKD-REN","Сімейна ювенільна гіперурикемічна нефропатія 2 типу","FJHN тип 2","REN-асоційована сімейна ювенільна гіперурикемічна нефропатія","REN-асоційований FJHN","REN-асоційовані захворювання нирок"],"definition":"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."},"zh":{"name":"REN基因相关的常染色体显性遗传肾小管间质性肾病","synonyms":["REN基因相关的家族性青少年高尿酸血症肾病2型"],"definition":"家族性青少年高尿酸血症肾病2型是一种罕见的常染色体显性遗传疾病，其特点是再生障碍性贫血、高尿酸血症，以及肾素-血管紧张素系统（RAS）失调所致的缓慢进展的肾功能衰竭。"},"tr":{"name":"REN -ilişkili otozomal dominant tubulointerstisyel böbrek hastalığı","synonyms":["ADTKD-REN","FJHN tip 2","REN-ilişkili FJHN","REN-ilişkili böbrek hastalığı","Ailesel jüvenil hiperürisemik nefropati tip 2","REN-ilişkili ailesel jüvenil hiperürisemik nefropati"]}},"xrefs":[{"source":"OMIM","code":"613092","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q61.5","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"MONDO","code":"0013128","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303080","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13461","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":34149,"name":"Autosomal dominant tubulointerstitial kidney disease","classifications":[156,188,233]}],"children":[],"genes":[{"symbol":"REN","name":"renin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21473025[PMID]","hgnc":"9958","ensembl":"ENSG00000143839","omim":"179820","loci":["1q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":35.0,"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":null}