{"orpha":88950,"name":"UMOD-related autosomal dominant tubulointerstitial kidney disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["ADTKD-UMOD","Autosomal dominant tubulointerstitial kidney disease due to UMOD mutation","Familial juvenile hyperuricemic nephropathy type 1","MCKD2","Medullary cystic kidney disease type 2","UAKD","UMOD kidney disease","UMOD-related ADTKD","Uromodulin-associated kidney disease"],"definition":"A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to <i>UMOD</i> mutations that is clinically characterized by bland urinalysis (absence of blood or protein in the urine), chronic kidney disease (CKD) leading to end-stage kidney disease (ESKD) between 20 and 80 years, and gout occurring in 50% of affected individuals.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-88950/","orphanet_url":"https://www.orpha.net/en/disease/detail/88950","names":{"fr":{"name":"Néphropathie tubulo-interstitielle autosomique dominante associée à UMOD","synonyms":["MCKD2","Maladie des kystes médullaires rénaux type 2","Nephropathie hyperuricémique juvénile familiale type 1","Néphropathie par mutation du gène de l'uromoduline"],"definition":"Forme de néphropathie tubulo-interstitielle autosomique dominante (ADTKD pour autosomal dominant tubulointerstitial kidney disease) due à des mutations du gène <i>UMOD</i>, caractérisée sur le plan clinique par un sédiment urinaire inactif (absence de sang ou de protéines dans les urines), une insuffisance rénale chronique (IRC) évoluant vers une insuffisance rénale de stade terminal (IRT) entre l'âge de 20 et 80 ans, et par une goutte chez 50 % des patients."},"de":{"name":"Nierenerkrankung, tubulointerstitielle, autosomal-dominante, UMOD-assoziierte","synonyms":["ADTKD-UMOD","MCKD2","Nephropathie, familiäre hyperurikämische juvenile, Typ 1","Nierenerkrankung, medulläre zystische, Typ 2","UMOD-assoziierte ADTKD","Uromodulin-assoziierte Nierenerkrankung"],"definition":"Eine Form der autosomal-dominanten tubulointerstitiellen Nierenerkrankung (ADTKD), die durch Mutationen im <i>UMOD</i>-Gen verursacht wird und klinisch gekennzeichnet ist durch eine unauffällige Urinanalyse (kein Blut oder Protein im Urin), eine chronische Nierenerkrankung (CKD), die im Alter zwischen 20 und 80 Jahren zur terminalen Niereninsuffizienz (ESRD) führt, und Gicht, die bei 50 % der Betroffenen auftritt."},"es":{"name":"Enfermedad renal tubulointersticial autosómica dominante asociada a UMOD","synonyms":["ADTKD-UMOD","Enfermedad renal UMOD","Enfermedad renal asociada a uromodulina","Enfermedad renal quística medular tipo 2","Enfermedad renal tubulointersticial autosómica dominante por una mutación en el gen UMOD","MCKD2","Nefropatía hiperuricémica juvenil familiar tipo 1","UAKD","ADTKD asociada a UMOD"],"definition":"Es una forma de enfermedad renal tubulointersticial autosómica dominante (ADTKD, por sus siglas en inglés) debida a mutaciones en <i>UMOD</i> que se caracteriza clínicamente por un análisis de orina anodino (ausencia de sangre o proteína en la orina), enfermedad renal crónica (ERC) que conduce a enfermedad renal terminal (ERT) entre los 20 y 80 años de edad, y gota en el 50% de los pacientes."},"it":{"name":"Nefropatia tubulointerstiziale autosomica dominante correlata a UMOD","synonyms":["ADTKD correlata a UMOD","ADTKD-UMOD","MCKD2","Malattia cistica della midollare renale tipo 2","Nefropatia associata all'uromodulina","Nefropatia associata all’uromodulina","Nefropatia correlata a UMOD","Nefropatia iperuricemica giovanile familiare tipo 1","Nefropatia tubulointerstiziale autosomica dominante da mutazione di UMOD","UAKD"]},"nl":{"name":"UMOD-gerelateerde autosomaal dominante tubulo-interstitiële nierziekte","synonyms":["ADTKD-UMOD","Autosomaal dominante tubulo-interstitiële nierziekte door UMOD-mutatie","Familiale juveniele hyperurikemische nefropathie type 1","MCKD2","Medullaire cystische nierziekte type 2","UAKD","UMOD-gerelateerde ADTKD","UMOD-nierziekte","Uromoduline-geassocieerde nierziekte"],"definition":"Een vorm van autosomaal dominante tubulo-interstitiële aandoening van nier (ADTKD) door <i>UMOD</i>-mutaties, klinisch gekenmerkt door een onbeduidende urine-analyse (afwezigheid van bloed of proteïne in urine), chronische nierziekte (CKD) die leidt tot terminaal nierfalen (ESRD) tussen de leeftijd van 20 en 80 jaar, en jicht dat optreedt bij 50% van de getroffen individuen."},"pt":{"name":"Doença renal tubulo-intersticial autossómica dominante UMOD-relacionada","synonyms":["ADTKD UMOD-relacionada","ADTKD-UMOD","Doença renal UMOD","Doença renal medular quística tipo 2","Doença renal tubulo-intersticial autossómica dominante por mutação em UMOD","Doença renal uromodulina-relacionada","MCKD2","Nefropatia hiperuricémica juvenil familiar tipo 1","UAKD"],"definition":"Forma de doença renal tubulointersticial autossómica dominante (ADTKD) devido a mutações no gene UMOD e é clinicamente caracterizada por urinálise (ausência de sangue ou proteína na urina), doença renal crónica (DRC) que origina doença renal terminal (ESKD) entre 20 e 80 anos, e gota que surge em 50% dos indivíduos afetados."},"pl":{"name":"Autosomalna dominująca torbielowatość rdzenia nerek z hiperurykemią","synonyms":["Autosomalna dominująca kanalikowo-śródmiąższowa choroba nerek związana z UMOD","Związana z UMOD autosomalna dominująca choroba cewkowo-śródmiąższowa nerek"]},"cs":{"name":"Autozomálně dominantní tubulointersticiální onemocnění ledvin související s UMOD","synonyms":["Autozomálně dominantní dřeňová cystická nemoc ledvin s hyperurikémií"]},"uk":{"name":"UMOD-асоційоване аутосомно-домінантне тубулоінтерстиціальне захворювання нирок","synonyms":["ADTKD-UMOD","Аутосомно-домінантна тубулоінтерстиціальна хвороба нирок, зумовлена мутацією UMOD","Сімейна ювенільна гіперурикемічна нефропатія типу 1","MCKD2","Медулярно-кістозна хвороба нирок 2 типу","UAKD","Захворювання нирок UMOD","ADTKD, повязаний з UMOD","Уромодулін-асоційоване захворювання нирок"],"definition":"A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to <i>UMOD</i> mutations that is clinically characterized by bland urinalysis (absence of blood or protein in the urine), chronic kidney disease (CKD) leading to end-stage kidney disease (ESKD) between 20 and 80 years, and gout occurring in 50% of affected individuals."},"zh":{"name":"UMOD相关常染色体显性遗传性肾小管间质肾疾病","synonyms":["常染色体显性遗传性肾髓质囊肿病2型"]},"tr":{"name":"UMOD-ilişkili otozomal dominant tubulointerstisyel böbrek hastalığı","synonyms":["MCKD2","ADTKD-UMOD","UMOD-ilişkili ADTKD","Uromodulin böbrek hastalığı","Uromodulin-ilişkili böbrek hastalığı","Ailesel jüvenil hiperürisemik nefropati tip 1","Otozomal dominant medüller kistik böbrek hastalığı tip 2"]}},"xrefs":[{"source":"OMIM","code":"162000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q61.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB82","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"387067249"},{"source":"MONDO","code":"0008073","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C548033","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859040","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10679","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":209886,"name":"OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1","status":"inactive"}],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":34149,"name":"Autosomal dominant tubulointerstitial kidney disease","classifications":[156,188,233]},{"orpha":156162,"name":"Renal ciliopathy","classifications":[156]}],"children":[],"genes":[{"symbol":"UMOD","name":"uromodulin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301530[PMID]","hgnc":"12559","ensembl":"ENSG00000169344","omim":"191845","loci":["16p12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":1.7,"area":"Austria","status":"Validated","source":"22740033[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":9.0,"area":"United Kingdom","status":"Validated","source":"30376835[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21868615[PMID]"}],"phenotypes":null}