{"orpha":88924,"name":"Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PKDTS","TSC2/PKD1 contiguous gene syndrome","Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome"],"definition":"A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-88924/","orphanet_url":"https://www.orpha.net/en/disease/detail/88924","names":{"fr":{"name":"Polykystose rénale autosomique dominante type 1 avec sclérose tubéreuse","synonyms":["Syndrome des gènes contigus TSC2/PKD1","Syndrome du gène contigu de la sclérose tubéreuse/polykystose rénale"],"definition":"La polykystose rénale avec sclérose tubéreuse (PR-SCT) est caractérisée par une polykystose rénale sévère de début précoce avec de nombreuses manifestations de sclérose tubéreuse (angiomyolipomes multiples, lymphangioléiomyomatoses et calcifications périventriculaires du système nerveux central)."},"de":{"name":"Nierenkrankheit, polyzystische, autosomal-dominante, Typ 1, mit tuberöser Sklerose","synonyms":["PKDTS","TSC2/PKD1-Contigous gene deletion-Syndrom","Tuberöse Sklerose/polyzystische Nierenkrankheit-Contigous gene deletion-Syndrom"],"definition":"Ein Contiguous-Gene-Syndrom mit einer partiellen Deletion von Chromosom 16, das durch eine früh einsetzende und schwere polyzystische Nierenerkrankung mit verschiedenen Manifestationen der tuberösen Sklerose (multiple Angiomyolipome, Lymphangioleiomyomatose und periventrikuläre Verkalkungen des zentralen Nervensystems) gekennzeichnet ist."},"es":{"name":"Enfermedad del riñón poliquístico autosómica dominante tipo 1 con esclerosis tuberosa","synonyms":["PKDTS","Síndrome de genes contiguos TSC2/PKD1","Síndrome de genes contiguos con esclerosis tuberosa/enfermedad renal poliquística"],"definition":"Es un síndrome poco frecuente de genes contiguos que implica una deleción parcial del cromosoma 16 y caracterizado por poliquistosis renal grave de aparición temprana con diversas manifestaciones de esclerosis tuberosa (angiomiolipomas múltiples, linfangioleiomiomatosis y calcificaciones periventriculares del sistema nervioso central)."},"it":{"name":"Rene policistico autosomico dominante tipo 1, con sclerosi tuberosa","synonyms":["PKDTS","Sindrome da geni contigui TSC2/PKD1","Sindrome da geni contigui, sclerosi tuberosa e rene policistico"]},"nl":{"name":"Autosomaal dominante polycystische nierziekte type 1 met tubereuze sclerose","synonyms":["PKDTS","TSC2/PKD1-'contiguous gene'-syndroom","Tubereuze sclerose/polycystische nierziekte 'contiguous gene'-syndroom"],"definition":"Een zeldzaam contiguous gene-syndroom met partiële deletie van chromosoom 16, gekarakteriseerd door vroeg optredende en ernstige polycystische nierziekte met verschillende manifestaties van tubereuze sclerose (multipele angiomyolipomen, lymfangioleiomyomatose en periventriculaire calcificatie van centraal zenuwstelsel)."},"pt":{"name":"Doença renal poliquística autossómica dominante tipo 1 com esclerose tuberosa","definition":"A doença renal poliquística com esclerose tuberosa (PKD-TSC) é caracterizada por uma doença renal poliquística grave de início precoce, com várias manifestações de esclerose tuberosa (múltiplos angiomiolipomas, linfangioleiomiomatose e calcificações periventriculares do sistema nervoso central)."},"pl":{"name":"Autosomalna dominująca wielotorbielowatość nerek typu 1 ze stwardnieniem guzowatym","synonyms":["Zespół przyległych genów stwardnienie guzowate/wielotorbielowatość nerek"]},"cs":{"name":"Autozomálně dominantní polycystóza ledvin, typ 1 s tuberózní sklerózou","synonyms":["Mikrodeleční syndrom zahrnující tuberózní sklerózu a polycystózu ledvin"]},"uk":{"name":"Аутосомно-домінантний полікістоз нирок типу 1 з туберозним склерозом","synonyms":["PKDTS","Синдром зчепленого гена TSC2/PKD1","Синдром туберозного склерозу/полікістозу нирок - суміжного гена"],"definition":"A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system)."},"zh":{"name":"常染色体显性遗传多囊肾病1型伴结节性硬化症","synonyms":["结节性硬化/多囊肾相邻基因综合征"]},"tr":{"name":"Tüberoskleroz ile seyreden otozomal dominant polikistik böbrek hastalığı tip 1","synonyms":["Tüberoskleroz / polikistik böbrek hastalığı bitişik gen sendromu"]}},"xrefs":[{"source":"OMIM","code":"600273","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q61.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1781576728"},{"source":"MONDO","code":"0010856","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838327","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9481","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93587,"name":"Genetic cystic renal disease","classifications":[156,188]},{"orpha":261956,"name":"Partial deletion of the short arm of chromosome 16 syndrome","classifications":[147,156]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":156162,"name":"Renal ciliopathy","classifications":[156]}],"children":[],"genes":[{"symbol":"PKD1","name":"polycystin 1, transient receptor potential channel interacting","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"15007723[PMID]_22169896[PMID]","hgnc":"9008","ensembl":"ENSG00000008710","omim":"601313","loci":["16p13.3"]},{"symbol":"TSC2","name":"TSC complex subunit 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"15007723[PMID]_22169896[PMID]","hgnc":"12363","ensembl":"ENSG00000103197","omim":"191092","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"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}