{"orpha":2091,"name":"Multinodular goiter-cystic kidney-polydactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Daneman-Davy-Mancer syndrome","Thyroid-renal-digital anomalies"],"definition":"Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2091/","orphanet_url":"https://www.orpha.net/en/disease/detail/2091","names":{"fr":{"name":"Syndrome de goitre multinodulaire-rein kystique-polydactylie","synonyms":["Anomalies thyroïde-rein-doigts","Syndrome de Daneman-Davy-Mancer"],"definition":"Le syndrome goitre multinodulaire - rein kystique - polydactylie est un syndrome très rare associant un goitre multinodulaire, une maladie rénale kystique et des anomalies digitales."},"de":{"name":"Struma, mehrknotig - Nierenzysten - Polydaktylie","synonyms":["Daneman-Davy-Mancer-Syndrom","Anomalien der Schilddrüse, Nieren und Finger"]},"es":{"name":"Síndrome de bocio multinodular-riñón quístico-polidactilia","synonyms":["Síndrome de Daneman-Davy-Mancer"],"definition":"El síndrome de bocio multinodular-riñón quístico-polidactilia es un síndrome muy poco frecuente caracterizado por la asociación de bocio multinodular, enfermedad renal quística y anomalías digitales."},"it":{"name":"Gozzo multinodulare - rene cistico - polidattilia","synonyms":["Anomalie tiroide-rene-dita","Sindrome di Daneman-Davy-Mancer"]},"nl":{"name":"Multinodulair struma - cystische nier - polydactylie-syndroom","synonyms":["Syndroom van Daneman-Davy-Mancer","Thyroïdale-renale-digitale anomalieën"],"definition":"Een zeer zeldzaam syndroom, gekenmerkt door de associatie van multinodulair struma, cystische nierziekte, en anomalieën van vingers/tenen."},"pt":{"name":"Síndrome de bócio multinodular-rim quístico-polidactilia","synonyms":["Anomalias tiroido-nefro-digitais","Síndrome Daneman-Davy-Mancer"]},"pl":{"name":"Wole wieloguzkowe - torbiel nerki - polidaktylia","synonyms":["Wady tarczycy, nerek i palców","Zespół Danemana, Davy'ego i Mancera"]},"cs":{"name":"Syndrom zahrnující multinodulární strumu, cystickou ledvinu a polydaktylii","synonyms":["Tyreorenodigitální anomálie","Danemanův-Davyho-Mancerův syndrom","Daneman-Davy-Mancerův syndrom"]},"uk":{"name":"Синдром багатовузлового зобу-кістозу нирок-полідактилії","synonyms":["Синдром Данемана-Дейві-Мансера","Тиреоїдно-нирково-пальцеві аномалії"],"definition":"Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies."},"zh":{"name":"多结节甲状腺肿-囊性肾-多指(趾)畸形综合征","synonyms":["甲状腺-肾-指(趾)异常"]},"tr":{"name":"Multinodüler guatr-kistik böbrek-polidaktili sendrom","synonyms":["Daneman-Davy-Mancer sendromu","Tiroid-renal-dijital anomaliler"]}},"xrefs":[{"source":"OMIM","code":"138790","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007680","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535986","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1841853","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1671","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"4020555[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4020555[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005987","label":"Multinodular goiter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001841","label":"Preaxial foot polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Frequent (79-30%)","criteria":null}]}}