{"orpha":2668,"name":"Nephropathy-deafness-hyperparathyroidism syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Edwards-Patton-Dilly syndrome","Nephropathy-hearing loss-hyperparathyroidism syndrome"],"definition":"A rare syndromic deafness characterized by renal failure without hematuria, hyperparathyroidism due to parathyroid hyperplasia and sensorineural deafness. There have been no further descriptions in the literature since 1989.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2668/","orphanet_url":"https://www.orpha.net/en/disease/detail/2668","names":{"fr":{"name":"Syndrome de néphropathie-surdité-hyperparathyroïdie","synonyms":["Syndrome d'Edwards-Patton-Dilly"],"definition":"Surdité génétique rare caractérisée par une insuffisance rénale sans hématurie, une hyperplasie parathyroïdienne ainsi qu'une surdité de perception. Aucun cas n'a été décrit dans la littérature depuis 1989."},"de":{"name":"Nephropathie-Schwerhörigkeit-Hyperparathyreoidismus-Syndrom","synonyms":["Edwards-Patton-Dilly-Syndrom"],"definition":"Ein seltene syndromale Form der Hörstörung, die durch Nierenversagen ohne Hämaturie, Hyperparathyreoidismus durch Nebenschilddrüsenhyperplasie und sensorineurale Schwerhörigkeit gekennzeichnet ist. Seit 1989 gibt es keine weiteren Berichte."},"es":{"name":"Síndrome de nefropatía-sordera-hiperparatiroidismo","synonyms":["Síndrome de Edwards-Patton-Dilly","Síndrome de nefropatía-hipoacusia-hiperparatiroidismo"],"definition":"Es una sordera sindrómica poco frecuente caracterizada por insuficiencia renal sin hematuria, hiperplasia paratiroidea y sordera neurosensorial. No ha habido nuevos casos descritos en la literatura desde 1989."},"it":{"name":"Sindrome nefropatia-sordità-iperparatiroidismo","synonyms":["Sindrome di Edwards-Patton-Dilly"],"definition":"Si tratta di una sordità sindromica rara, caratterizzata dall'insufficienza renale senza ematuria, iperplasia delle paratiroidi e sordità neurosensoriale. Non sono stati descritti nuovi casi dopo il 1989."},"nl":{"name":"Nefropathie - doofheid - hyperparathyreoïdie-syndroom","synonyms":["Nefropathie - gehoorverlies - hyperparathyreoïdie-syndroom","Syndroom van Edwards-Patton-Dilly"],"definition":"Een zeldzame syndromale doofheid, gekenmerkt door nierfalen zonder hematurie, hyperparathyreoïdie door hyperplasie van bijschildklier en sensorineurale doofheid. Sinds 1989 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de nefropatia-surdez-hiperparatiroidismo","synonyms":["Síndrome Edwards-Patton-Dilly","Síndrome de nefropatia-perda auditiva-hiperparatiroidismo"]},"pl":{"name":"Nefropatia - głuchota - nadczynność przytarczyc","synonyms":["Zespół Edwardsa, Pattona i Dilly'ego"]},"cs":{"name":"Syndrom zahrnující neuropatii, hluchotu a hyperparatyreózu","synonyms":["Edwardsův-Pattonův-Dillyové syndrom","Edwards-Patton-Dillyové syndrom"]},"uk":{"name":"Синдром нефропатії-глухоти-гіперпаратиреозу","synonyms":["Синдром Едвардса-Паттона-Діллі","Синдром нефропатії - втрати слуху - гіперпаратиреозу"],"definition":"A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989."},"zh":{"name":"肾病-耳聋-甲状旁腺功能亢进综合征","synonyms":["肾病-听力丧失-甲状旁腺功能亢进综合征"]},"tr":{"name":"Nefropati-sağırlık-hiperparatiroidizm sendromu","synonyms":["Edwards-Patton-Dilly sendromu","Nefropati-işitme kaybı-hiperparatiroidi sendromu"]}},"xrefs":[{"source":"OMIM","code":"256120","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1751642374"},{"source":"MONDO","code":"0009729","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536401","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518325","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3940","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"2732989[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2732989[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012062","label":"Bone cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100820","label":"Glomerulopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000843","label":"Hyperparathyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null}]}}