{"orpha":88949,"name":"MUC1-related autosomal dominant tubulointerstitial kidney disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["ADTKD-MUC1","MCKD1","MUC1-related medullary cystic kidney disease","MUCI-related ADTKD","Medullary cystic kidney disease type 1"],"definition":"A rare autosomal dominant tubulointerstitial kidney (ADTKD) disease due to <i>MUC1</i> mutations characterized clinically by a bland urinalysis (absence of blood or protein in the urine), and chronic kidney disease leading to end-stage kidney disease (ESKD) between 20 and 80 years.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-88949/","orphanet_url":"https://www.orpha.net/en/disease/detail/88949","names":{"fr":{"name":"Néphropathie tubulo-intersitielle autosomique dominante associée à MUC1","synonyms":["MCKD1","Maladie des kystes médullaires rénaux associée à MUC1","Maladie des kystes médullaires rénaux type 1"],"definition":"Néphropathie tubulo-interstitielle autosomique dominante rare (ADTKD pour autosomal dominant tubulointerstitial kidney) due à des mutations du gène <i>MUC1</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."},"de":{"name":"Nierenerkrankung, tubulointerstitielle, autosomal-dominante, MUC1-assoziierte","synonyms":["ADTKD-MUC1","MCKD1","MUCI-assoziierte ADTKD","Nierenerkrankung, medulläre zystische, Typ 1","Nierenerkrankung, medulläre zystische, autosomal-dominante, MUC1-assoziiert"],"definition":"Eine seltene autosomal-dominante tubulointerstitielle Nierenerkrankung (ADTKD), die auf Mutationen im <i>MUC1</i>-Gen zurückzuführen ist und klinisch durch eine blande Urinanalyse (kein Blut oder Eiweiß im Urin) und eine chronische Nierenerkrankung gekennzeichnet ist, die im Alter von 20 bis 80 Jahren zum Endstadium der Nierenerkrankung (ESKD) führt."},"es":{"name":"Enfermedad renal tubulointersticial autosómica dominante asociada a MUC1","synonyms":["MCKD1","Nefropatía quística medular tipo 1","ADTKD asociada a MUC1","ADTKD-MUC1","Enfermedad renal quística medular asociada a MUC1","Enfermedad renal quística medular tipo 1"],"definition":"Es una enfermedad renal tubulointersticial autosómica dominante (ADTKD, por sus siglas en inglés) poco frecuente debida a mutaciones del gen <i>MUC1</i> y caracterizada clínicamente por un análisis de orina anodino (ausencia de sangre o proteína en la orina) y enfermedad renal crónica que deriva en enfermedad renal terminal (ESKD) entre los 20 y 80 años de edad."},"it":{"name":"Nefropatia tubulo-interstiziale autosomica dominante correlata a MUC1","synonyms":["ADTKD correlata a MUCI","ADTKD-MUC1","MCKD1","Malattia cistica della midollare renale correlata a MUC1","Malattia cistica della midollare renale tipo 1"]},"nl":{"name":"MUC1-gerelateerde autosomaal dominante tubulo-interstitiële nierziekte","synonyms":["ADTKD-MUC1","MCKD1","MUC1-gerelateerde medullaire cystische nierziekte","MUCI-gerelateerde ADTKD","Medullaire cystische nierziekte type 1"],"definition":"Een zeldzame autosomaal dominante tubulo-interstitiële aandoening van nier (ADTKD) door <i>MUC1</i>-mutaties, klinisch gekenmerkt door een onbeduidende urine-analyse (afwezigheid van bloed of proteïne in urine), en chronische nierziekte die leidt tot terminaal nierfalen (ESRD) tussen de leeftijd van 20 en 80 jaar."},"pt":{"name":"Doença tubulo-intersticial renal autossómica dominante MUC1-relacionada","synonyms":["ADTKD-MUC1","Doença medular renal quística MUC1-relacionada","Doença medular renal quística medular tipo 1"],"definition":"Doença renal tubulointersticial autossómica dominante rara (ADTKD) causada por mutações em MUC1, caracterizada clinicamente por um exame de urina insuspeito (ausência de sangue ou proteína na urina) e doença renal crónica que origina doença renal em estágio terminal (ESKD) entre os 20 e 80 anos."},"pl":{"name":"Autosomalna dominująca torbielowatość rdzenia nerek bez hiperurykemii","synonyms":["Autosomalna dominująca kanalikowo-śródmiąższowa choroba nerek związana z MUC1"]},"cs":{"name":"Autozomálně dominantní tubulointersticiální onemocnění ledvin související s MUC1","synonyms":["Autozomálně dominantní dřeňová cystická nemoc ledvin bez hyperurikémie"]},"uk":{"name":"MUC1-асоційоване аутосомно-домінантне тубулоінтерстиціальне захворювання нирок","synonyms":["ADTKD-MUC1","MCKD1","Медулярно-кістозна хвороба нирок типу 1","MUC1-асоційована медулярна кістозна хвороба нирок","АДТКЗ, повязана з MUCI"],"definition":"A rare autosomal dominant tubulointerstitial kidney (ADTKD) disease due to <i>MUC1</i> mutations characterized clinically by a bland urinalysis (absence of blood or protein in the urine), and chronic kidney disease leading to end-stage kidney disease (ESKD) between 20 and 80 years."},"zh":{"name":"MUC1相关常染色体显性遗传性肾小管间质肾疾病","synonyms":["肾髓质囊肿病1型"]},"tr":{"name":"MUC1-ilişkili otozomal dominant tubulointerstisyel böbrek hastalığı","synonyms":["MUC1-ilişkili otozomal baskın medüller kistik böbrek hastalığı","MCKD1","ADTKD-MUC1","MUCI-ilişkili ADTKD","Medüller kistik böbrek hastalığı tip 1"]}},"xrefs":[{"source":"OMIM","code":"174000","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":"1403123252"},{"source":"MONDO","code":"0020726","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536137","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1868139","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7002","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]},{"orpha":156162,"name":"Renal ciliopathy","classifications":[156]}],"children":[],"genes":[{"symbol":"MUC1","name":"mucin 1, cell surface associated","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23396133[PMID]_24509297[PMID]","hgnc":"7508","ensembl":"ENSG00000185499","omim":"158340","loci":["1q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"United States","status":"Validated","source":"31488840[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Ireland","status":"Validated","source":"31488840[PMID]"}],"phenotypes":null}