{"orpha":2820,"name":"Spastic paraplegia-nephritis-deafness syndrome","type":"Clinical syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Fitzsimmons-Walson-Mellor syndrome","Spastic paraplegia-nephritis-hearing loss syndrome"],"definition":"Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2820/","orphanet_url":"https://www.orpha.net/en/disease/detail/2820","names":{"fr":{"name":"Syndrome de paraplégie spastique-néphropathie-surdité","synonyms":["Syndrome de Fitzsimmons-Watson-Mellor"],"definition":"Le syndrome de paraplégie spastique-néphropathie-surdité est une forme complexe de paraplégie spastique héréditaire caractérisée par une paraplégie spastique variable et progressive, associée à une surdité neurosensorielle bilatérale, un déficit intellectuel et une néphropathie progressive. Il n'y a pas eu de description ultérieure du syndrome dans la littérature depuis 1988."},"de":{"name":"Spastische Paraplegie-Nephritis-Schwerhörigkeit-Syndrom","synonyms":["Fitzsimmons-Walson-Mellor-Syndrom"],"definition":"Eine komplexe Form der hereditären spastischen Paraplegie, die durch eine progressive, variable spastische Paraplegie in Verbindung mit beidseitiger sensorineuraler Taubheit, Intelligenzminderung und progressiver Nephropathie gekennzeichnet ist. Seit 1988 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de paraplejía espástica-nefropatía-sordera","synonyms":["Síndrome de Fitzsimmons-Walson-Mellor"],"definition":"El síndrome de paraplejía espástica-nefritis-sordera es una forma compleja de paraplejía espástica hereditaria caracterizada por paraplejía espástica progresiva y variable asociada a sordera neurosensorial bilateral, discapacidad intelectual y nefropatía progresiva. No ha habido descripciones adicionales en la literatura desde 1988."},"it":{"name":"Paraplegia spastica - nefropatia - sordità","synonyms":["Sindrome di Fitzsimmons-Walson-Mellor"],"definition":"La paraplegia spastica con nefropatia e sordità è una forma complessa di paraplegia spastica ereditaria; è caratterizzata da paraplegia spastica variabile progressiva associata a sordità neurosensoriale bilaterale, disabilità intellettiva e nefropatia progressiva. Non sono stati descritti nuovi casi dopo il 1988."},"nl":{"name":"Spastische paraplegie - nefritis - doofheid-syndroom","synonyms":["Spastische paraplegie - nefritis - gehoorverlies-syndroom","Syndroom van Fitzsimmons-Walson-Mellor"],"definition":"Spastische paraplegie - nefritis - doofheid-syndroom is een complexe vorm van erfelijke spastische paraplegie die gekarakteriseerd wordt door progressieve, variabele spastische paraplegie geassocieerd met bilaterale sensorineurale doofheid, intellectuele achterstand, en progressieve nefropathie. Sinds 1988 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de paraplegia espástica-nefrite-surdez","synonyms":["Síndrome Fitzsimmons-Walson-Mellor"]},"pl":{"name":"Paraplegia spastyczna - zapalenie nerek - głuchota","synonyms":["Zespół Fitzsimmonsa, Walsona i Mellora"]},"cs":{"name":"Syndrom zahrnující spastickou paraplegii, nefritidu a hluchotu","synonyms":["Fitzsimmonsův-Walsonův-Mellorův syndrom","Fitzsimmons-Walson-Mellorův syndrom"]},"uk":{"name":"Синдром спастичної параплегії-нефриту-глухоти","synonyms":["Синдром Фіцсіммонса-Уолсона-Меллора","Синдром спастичної параплегії-нефриту-глухоти"],"definition":"Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988."},"zh":{"name":"痉挛性截瘫-肾炎-耳聋综合征","synonyms":["痉挛性截瘫-肾炎-听力丧失综合征"]},"tr":{"name":"Spastik parapleji-nefrit-sağırlık sendromu","synonyms":["Fitzsimmons-Walson-Mellor sendromu","Spastik parapleji-nefrit-işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"182690","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1364971507"},{"source":"MONDO","code":"0008440","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537937","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931667","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2342","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100979,"name":"Autosomal dominant complex spastic paraplegia","classifications":[156,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"3351903[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3351903[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-30","source":null,"terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010550","label":"Paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Occasional (29-5%)","criteria":null}]}}