{"orpha":93111,"name":"HNF1B-related autosomal dominant tubulointerstitial kidney disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["ADTKD-HNF1B","HNF1B-MODY","HNF1B-related nephropathy","MODY5","Maturity-onset diabetes of the young type 5","RCAD syndrome","Renal cysts and diabetes syndrome","Renal dysfunction-early-onset diabetes syndrome"],"definition":"A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in or whole gene deletions of <i>HNF1B</i>, which is characterized by chronic tubulo-interstitial nephritis, that manifests with nonsignificant urinalysis and slowly progressive renal failure. It can be associated with cystic kidney dysplasia, early onset diabetes and extrarenal manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93111/","orphanet_url":"https://www.orpha.net/en/disease/detail/93111","names":{"fr":{"name":"Néphropathie tubulo-interstitielle autosomique dominante associée à HNF1B","synonyms":["ADTKD-HNF1B","Diabète juvénile type 5","HNF1B-MODY","MODY5","Néphropathie associée à HNF1B","Syndrome RCAD","Syndrome kystes rénaux-diabète juvénile"],"definition":"Forme de néphropathie tubulo-interstitielle autosomique dominante (NTAD) due à des mutations du gène <i>HNF1B</i> ou à une délétion complète du gène, qui se caractérise par une néphrite tubulo-interstitielle chronique se manifestant par une analyse urinaire non significative et une insuffisance rénale à progression lente. Elle peut être associée à une dysplasie rénale kystique, à un diabète à début précoce et à des manifestations extra-rénales."},"de":{"name":"HNF1B-assoziierte autosomal-dominante tubulointerstitielle Nierenerkrankung","synonyms":["HNF1B-MODY","HNF1B-assoziierte Nephropathie","MODY5","Nierendysfunktion-früh einsetzender Diabetes-Syndrom","Nierenzysten und Diabetes-Syndrom","Nierenzysten und Diabetes-Syndrom, HNF1B-assoziiertes","RCAD-Syndrom"],"definition":"Eine Form der autosomal-dominanten tubulointerstitiellen Nierenerkrankung (ADTKD), die durch pathogene Varianten oder vollständige Deletionen des <i>HNF1B</i>-Gens verursacht wird und durch eine chronische tubulointerstitielle Nephritis mit unauffälligem Urinbefund und langsam progredienter Niereninsuffizienz gekennzeichnet ist. Sie kann mit zystischer Nierendysplasie, frühzeitigem Diabetes und extrarenalen Manifestationen einhergehen."},"es":{"name":"Enfermedad renal tubulointersticial autosómica dominante asociada a HNF1B","synonyms":["ADTKD-HNF1B","Diabetes del adulto de inicio juvenil tipo 5","HNF1B-MODY","MODY5","Nefropatía asociada a HNF1B","Síndrome RCAD","Síndrome de disfunción renal y diabetes de inicio precoz","Síndrome de quistes renales y diabetes"],"definition":"Es una forma de enfermedad renal tubulointersticial autosómica dominante (ADTKD) debida a variantes de <i>HNF1B</i> o deleciones del gen completo, caracterizada por nefritis tubulointersticial crónica, que se manifiesta con un análisis de orina no significativo e insuficiencia renal lentamente progresiva. Puede asociarse a displasia quística renal, diabetes de inicio precoz y manifestaciones extrarrenales."},"it":{"name":"Nefropatia tubulo-interstiziale autosomica dominante correlata a HNF1B","synonyms":["ADTKD-HNF1B","Diabete giovanile a esordio nella maturità tipo 5","HNF1B-MODY","MODY5","Nefropatia correlata a HNF1B","Sindrome RCAD","Sindrome da cisti renali e diabete","Sindrome da disfunzione renale e diabete a esordio precoce"],"definition":"Si tratta di una forma di nefropatia tubulo-interstiziale autosomica dominante (ADTKD), causata dalle mutazioni o dalle delezioni dell'intero gene <i>HNF1B</i>,caratterizzata da nefrite tubulo-interstiziale cronica, che si manifesta con insufficienza renale a progressione lenta. Le analisi delle urine non sono significative. Può associarsi a displasia renale cistica, diabete ad esordio precoce e sintomi extrarenali."},"nl":{"name":"HNF1B-gerelateerde autosomaal dominante tubulo-interstitiële nierziekte","synonyms":["ADTKD-HNF1B","HNF1B-MODY","HNF1B-gerelateerde nefropathie","MODY5","Nierdisfunctie - vroeg optredende diabetes-syndroom","Ouderdomsdiabetes bij jongeren type 5","RCAD-syndroom","Syndroom van niercysten en diabetes"],"definition":"Een vorm van autosomaal dominante tubulo-interstitiële nierziekte (ADTKD) als gevolg van varianten in of helle gendeleties van <i>HNF1B</i>, gekenmerkt door chronische tubulo-interstitiële nefritis die zich manifesteert met niet-significante resultaten van urine-analyse en traag progressief nierfalen. Het kan geassocieerd zijn met cystische nierdysplasie, vroeg aanvangende diabetes, en extrarenale manifestaties."},"pt":{"name":"Doença tubulo-intersticial renal autossómica dominante HNF1B-relacionada","synonyms":["MODY5","Nefropatia HNF1B-relacionada","Síndrome de disfunção renal-diabetes de início precoce","Síndrome de quistos renais-diabetes"],"definition":"Uma forma de doença renal tubulointersticial autossómica dominante (ADTKD) devido a variantes ou deleções de genes inteiros HNF1B, é caracterizada por nefrite túbulo-intersticial crónica com urinálise não significativa e insuficiência renal lentamente progressiva. Pode estar associada a displasia renal quística, diabetes de início precoce e manifestações extrarrenais."},"pl":{"name":"Zespół torbiele nerek i cukrzyca","synonyms":["Dysfunkcja nerek - cukrzyca o wczesnym poczatku","MODY5","Torbiele nerek - MODY","Zespół RCAD","Autosomalna dominująca kanalikowo-śródmiąższowa choroba nerek związana z HNF1B"]},"cs":{"name":"Autozomálně dominantní tubulointersticiální onemocnění ledvin související s HNF1B","synonyms":["HNF1B-MODY","MODY5","RCAD syndrom","Syndrom zahrnující renální cysty a MODY diabetes","Syndrom zahrnující renální dysfunkci a diabetes s časným nástupem","Syndrom renálních cyst a diabetes"]},"uk":{"name":"HNF1B-асоційоване аутосомно-домінантне тубулоінтерстиціальне захворювання нирок","synonyms":["ADTKD-HNF1B","HNF1B-MODY","Нефропатія, повязана з HNF1B","Цукровий діабет молодого віку 5 типу, що починається в зрілому віці","MODY5","Синдром RCAD","Кісти нирок і діабетичний синдром","Синдром ниркової дисфункції - раннього діабету"],"definition":"A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in or whole gene deletions of <i>HNF1B</i>, which is characterized by chronic tubulo-interstitial nephritis, that manifests with nonsignificant urinalysis and slowly progressive renal failure. It can be associated with cystic kidney dysplasia, early onset diabetes and extrarenal manifestations."},"zh":{"name":"HNF1B相关常染色体显性肾小管间质性肾病","synonyms":["肾功能不全-早发型糖尿病综合征"],"definition":"肾囊肿和糖尿病综合征（RCAD）是青年人中成年发病型糖尿病（MODY；见该词条）的一种罕见形式，临床上以异质性囊性肾病和早期发病的家族性非自身免疫性糖尿病为特征。胰腺萎缩，肝功能异常和生殖道异常也是该综合征的特征。"},"tr":{"name":"HNF1B-ilişkili otozomal dominant tubulointerstisyel böbrek hastalığı","synonyms":["MODY5","HNF1B-MODY","ADTKD-HNF1B","RCAD sendromu","Böbrek kistleri ve diyabet sendromu","Erişkin-başlangıçlı diyabet tip 5","Böbrek disfonksiyonu-erken başlangıçlı diyabet sendromu"]}},"xrefs":[{"source":"OMIM","code":"137920","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N11.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A13.6","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"566324219"},{"source":"MONDO","code":"0007669","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535520","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0431693","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":34149,"name":"Autosomal dominant tubulointerstitial kidney disease","classifications":[156,188,233]},{"orpha":181376,"name":"Rare diabetes mellitus type 2","classifications":[193]},{"orpha":183625,"name":"Rare genetic diabetes mellitus","classifications":[156]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"HNF1B","name":"HNF1 homeobox B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21844708[PMID]_22498247[PMID]","hgnc":"11630","ensembl":"ENSG00000275410","omim":"189907","loci":["17q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"16249435[PMID]","terms":[{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012093","label":"Abnormality of endocrine pancreas physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012092","label":"Abnormality of exocrine pancreas physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012873","label":"Absent vas deferens","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100800","label":"Aplasia/Hypoplasia of the pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000813","label":"Bicornuate uterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100820","label":"Glomerulopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002149","label":"Hyperuricemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009715","label":"Papillary cystadenoma of the epididymis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001994","label":"Renal Fanconi syndrome","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005584","label":"Renal cell carcinoma","frequency":"Occasional (29-5%)","criteria":null}]}}