{"orpha":1399,"name":"Richards-Rundle syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ketoaciduria-intellectual disability-ataxia-deafness syndrome","Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome"],"definition":"Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1399/","orphanet_url":"https://www.orpha.net/en/disease/detail/1399","names":{"fr":{"name":"Syndrome de Richards-Rundle","synonyms":["Syndrome de cétoacidurie-déficience intellectuelle-ataxie-surdité"],"definition":"Le syndrome de Richards-Rundle est une maladie neurodégénératve extrêmement rare caractérisée par une ataxie spinocérébelleuse progressive, une surdité neurosensorielle et un hypogonadisme hypergonadotrope associé à des manifestations neurologiques additionnelles (telles qu'une atrophie musculaire, un nystagmus, un déficit intellectuel ou une démence) et une cétoacidurie."},"de":{"name":"Richards-Rundle-Syndrom","synonyms":["Ketoazidose-Intelligenzminderung-Ataxie-Taubheit-Syndrom"]},"es":{"name":"Síndrome de Richards-Rundle","synonyms":["Síndrome de cetoaciduria-discapacidad intelectual-ataxia-hipoacusia","Síndrome de cetoaciduria-discapacidad intelectual-ataxia-sordera"],"definition":"El síndrome de Richards-Rundle es un trastorno neurodegenerativo extremadamente raro caracterizado por ataxia espinocerebelosa progresiva, pérdida auditiva neurosensorial e hipogonadismo hipergonadotrópico asociado con otras manifestaciones neurológicas como atrofia muscular periférica, nistagmo, discapacidad intelectual o demencia y cetoaciduria."},"it":{"name":"Sindrome di Richards-Rundle","synonyms":["Aciduria chetonica - ritardo mentale - atassia - sordità","Sindrome chetoaciduria-disabilità intellettiva-atassia-sordità","Sindrome chetoaciduria-disabilità intellettiva-atassia-perdita dell'udito"],"definition":"La sindrome di Richards-Rundle è una malattia neurodegenerative molto rara caratterizzata da atassia spinocerebellare progressiva, sordità neurosensoriale e ipogonadismo ipergonadotropo, associati ad altri segni neurologici (distruzione dei muscoli periferici, nistagmo, disabilità cognitiva o demenza) e chetoaciduria."},"nl":{"name":"Syndroom van Richards-Rundle","synonyms":["Ketoacidurie - intellectuele achterstand - ataxie - doofheid-syndroom","Ketoacidurie - intellectuele achterstand - ataxie - gehoorverlies-syndroom"],"definition":"Syndroom van Richards-Rundle is een uiterst zeldzame neurodegeneratieve stoornis die gekarakteriseerd wordt door progressieve spinocerebellaire ataxie, sensorineuraal gehoorverlies, en hypergonadotroop hypogonadisme geassocieerd met bijkomende neurologische manifestaties (zoals perifere spieratrofie, nystagmus, intellectuele achterstand of dementie) en ketoacidurie."},"pt":{"name":"Síndrome Richards-Rundle","synonyms":["Síndrome de cetoacidúria-perturbação do desenvolvimento intelectual-ataxia-perda auditiva","Síndrome de cetoacidúria-perturbação do desenvolvimento intelectual-ataxia-surdez"]},"pl":{"name":"Zespół Richardsa i Rundle'a","synonyms":["Ketoaciduria - niepełnosprawność intelektualna - ataksja - głuchota"]},"cs":{"name":"Richardsův-Rundleho syndrom","synonyms":["Syndrom zahrnující ketoacidurii, mentální retardaci, ataxii a hluchotu","Richards-Rundleho syndrom"]},"uk":{"name":"Синдром Річардса-Рандла","synonyms":["Синдром кетоацидурії - інтелектуальної недостатності - атаксії - глухоти","Синдром кетоацидурії - інтелектуальної недостатності - атаксії - втрати слуху"],"definition":"Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria."},"zh":{"name":"Richards-Rundle综合征","synonyms":["酮症酸尿-智力障碍-共济失调-听力丧失综合征"]},"tr":{"name":"Richards-Rundle sendromu","synonyms":["Ketoasidüri-zihinsel yetersizlik-ataksi-sağırlık sendromu","Ketoasidüri-zihinsel yetersizlik-ataksi-işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"245100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"114583632"},{"source":"MONDO","code":"0009493","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535674","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796136","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8423","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":183518,"name":"Hereditary ataxia","classifications":[156,181]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002919","label":"Ketonuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Occasional (29-5%)","criteria":null}]}}