{"orpha":52368,"name":"Mohr-Tranebjaerg syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hearing loss-dystonia-optic neuronopathy syndrome","DDON syndrome","Deafness-dystonia-optic neuronopathy syndrome"],"definition":"A rare X-linked syndromic intellectual disability characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-52368/","orphanet_url":"https://www.orpha.net/en/disease/detail/52368","names":{"fr":{"name":"Syndrome de Mohr-Tranebjaerg","synonyms":["Syndrome DDON","Syndrome de surdité-dystonie-neuronopathie optique"],"definition":"Déficience intellectuelle syndromique rare liée à l'X, caractérisée, sur le plan clinique, par une perte auditive apparaissant dans la petite enfance, suivie d'une dystonie ou d'une ataxie progressive à l'adolescence, d'une déficience visuelle à partir du début de l'âge adulte et d'une démence à partir de la 4<sup<e</sup> décennie de vie."},"de":{"name":"Mohr-Tranebjaerg-Syndrom","synonyms":["Taubheit - Dystonie - Optikusatrophie"],"definition":"Eine seltene X-chromosomal vererbte intellektuelle Entwicklungsstörung. Charakteristische klinische Symptome sind: In der frühen Kindheit einsetzender Gehörverlust, gefolgt von in der Adoleszenz einsetzender progressiver Dystonie oder Ataxie, Einschränkung des Sehvermögens ab dem frühen Erwachsenenalter und Demenz ab der vierten Lebensdekade."},"es":{"name":"Síndrome de Mohr-Tranebjaerg","synonyms":["Síndrome DDON","Síndrome de hipoacusia-distonía-neuronopatía óptica","Síndrome de sordera-distonía-neuronopatía óptica"],"definition":"Es una discapacidad intelectual sindrómica poco frecuente ligada al cromosoma X caracterizada por manifestaciones clínicas que debutan en la infancia temprana con pérdida auditiva, seguidas de distonía progresiva o ataxia de inicio en la adolescencia, discapacidad visual desde la edad adulta temprana y demencia a partir de la cuarta década."},"it":{"name":"Sindrome di Mohr-Tranebjaerg","synonyms":["Sindrome DDON","Sindrome sordità-distonia-neuropatia ottica"],"definition":"La sindrome di Mohr-Tranebjaerg (MTS) è una disabilità intellettiva sindromica legata all'X, che esordisce nella prima infanzia con sordità, seguita, durante l'adolescenza, da distonia o atassia progressiva. A partire dalla prima età adulta i pazienti sviluppano una compromissione della vista e, a partire dalla quarta decade, demenza."},"nl":{"name":"Syndroom van Mohr-Tranebjaerg","synonyms":["DDON-syndroom","Doofheid - dystonie - optische neuronopathie-syndroom","Gehoorverlies - dystonie - optische neuronopathie-syndroom"],"definition":"Een zeldzame X-gebonden syndromale intellectuele achterstand, gekenmerkt door klinische manifestaties die beginnen met gehoorverlies vanaf de de vroege kindertijd, gevolgd door progressieve dystonie of ataxie met aanvang in de adolescentie, visuele stoornis vanaf de vroege volwassenheid en dementie vanaf het vierde levensdecennium."},"pt":{"name":"Síndrome Mohr-Tranebjaerg","definition":"Perturbação do desenvolvimento intelectual sindrómica rara ligada ao cromossoma X, caracterizada por manifestações clínicas que iniciam com perda auditiva de início na infância, seguida de distonia progressiva ou ataxia de início na adolescência, deficiência visual a partir do início da idade adulta e demência a partir da quarta década de vida."},"pl":{"name":"Zespół Mohra i Tranebjaerga","synonyms":["Zespół DDON","Zespół głuchota- dystonia - neuropatia nerwu wzrokowego"],"definition":"Rzadka, syndromiczna niepełnosprawność intelektualna sprzężona z chromosomem X, charakteryzująca się utratą słuchu we wczesnym dzieciństwie, a następnie postępującą dystonią lub ataksją w okresie dojrzewania, zaburzeniami widzenia we wczesnej dorosłości oraz otępieniem od 4 dekady życia."},"cs":{"name":"Mohrův-Tranabjaergové syndrom","synonyms":["DDON syndrom","Syndrom zahrnující hluchotu, dystonii a optickou neuropatii","Mohr-Tranabjaergové syndrom"]},"uk":{"name":"Синдром Мора-Транебєрга","synonyms":["Синдром DDON","Синдром глухоти-дистонії-нейропатії зорового нерва","Синдром туговухості-дистонії-нейропатії зорового нерва"],"definition":"A rare X-linked syndromic intellectual disability characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards."},"zh":{"name":"耳聋肌张力障碍综合征","synonyms":["听力丧失-肌张力障碍-视神经病综合征"]},"tr":{"name":"Mohr-Tranebjaerg sendromu","synonyms":["DDON sendromu","Sağırlık-distoni-optik nöronopati sendromu","İşitme kaybı-distoni-optik nöronopati sendromu"]}},"xrefs":[{"source":"OMIM","code":"304700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A02.12","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1905672554"},{"source":"MONDO","code":"0010578","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"10578","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535808","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796074","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8331","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":3213,"name":"Deafness-opticoacoustic nerve atrophy-dementia syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":254834,"name":"Mitochondrial protein import disorder","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"TIMM8A","name":"translocase of inner mitochondrial membrane 8A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301395[PMID]_11956200[PMID]","hgnc":"11817","ensembl":"ENSG00000126953","omim":"300356","loci":["Xq22.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":91.0,"area":"Worldwide","status":"Validated","source":"20301395[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301395[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-12","source":"20301395[PMID]_22736418[PMID]_30634948[PMID]","terms":[{"hpo":"HP:0000375","label":"Abnormal cochlea morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001751","label":"Abnormal vestibular function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007377","label":"Abnormality of somatosensory evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000649","label":"Abnormality of visual evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004463","label":"Absent brainstem auditory responses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011448","label":"Ankle clonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007325","label":"Generalized dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002283","label":"Global brain atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006801","label":"Hyperactive deep tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012048","label":"Oromandibular dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008596","label":"Postlingual sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000399","label":"Prelingual sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004432","label":"Agammaglobulinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002186","label":"Apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011951","label":"Aspiration pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002340","label":"Caudate atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000603","label":"Central scotoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000551","label":"Color vision defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004373","label":"Focal dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011999","label":"Paranoia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000751","label":"Personality changes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002362","label":"Shuffling gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Very rare (<4-1%)","criteria":null}]}}