{"orpha":93256,"name":"Fragile X-associated tremor/ataxia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["FXTAS syndrome"],"definition":"Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93256/","orphanet_url":"https://www.orpha.net/en/disease/detail/93256","names":{"fr":{"name":"Syndrome tremblement-ataxie lié à une prémutation de l'X fragile","synonyms":["Syndrome FXTAS"],"definition":"Le syndrome tremblement-ataxie lié à une prémutation de l'X fragile (FXTAS) est une maladie rare neurodégénérative caractérisée par un tremblement intentionnel et une ataxie de la marche débutant à l'âge adulte."},"de":{"name":"Fragiles-X assoziiertes Tremor/Ataxie-Syndrom","synonyms":["FXTAS"],"definition":"Das Fragile X-Tremor-Ataxie-Syndrom (FXTAS) ist eine seltene neurodegenerative Störung mit im Erwachsenenalter einsetzender Gangstörung und zunehmendem Intentionstremor."},"es":{"name":"Síndrome de ataxia/temblor asociado al cromosoma X frágil","synonyms":["Síndrome FXTAS"],"definition":"El síndrome de temblor/ataxia asociado a X frágil (FXTAS) es un trastorno neurodegenerativo que se caracteriza por un temblor intencional y ataxia de la marcha progresivos de aparición tardía."},"it":{"name":"Sindrome dell'X fragile con tremore/atassia","synonyms":["Sindrome FXTAS"],"definition":"La sindrome dell'X fragile con tremore/atassia (FXTAS) è una malattia rara neurodegenerativa caratterizzata da tremore intenzionale progressivo ad esordio nell'età adulta e andatura atassica."},"nl":{"name":"Fragiele-X-geassocieerd tremor/ataxie-syndroom","synonyms":["FXTAS-syndroom"],"definition":"Fragiele X-geassocieerde tremor/ataxiesyndroom (FXTAS) is een zeldzame neurodegeneratieve aandoening die wordt gekarakteriseerd door progressieve intentietremor en gangataxie die aanvangen in de volwassenheid."},"pt":{"name":"Síndrome de tremor/ataxia associada ao X frágil","synonyms":["Síndrome FXTAS"]},"pl":{"name":"Zespół drżenia/ataksji związany z łamliwym chromosomem X","synonyms":["Zespół FXTAS"]},"cs":{"name":"Syndrom FXTAS","synonyms":["Syndrom tremoru/ataxie asociovaný s fragilním X"]},"uk":{"name":"Синдром асоційованого з ламкою Х-хромосомою тремору/атаксії","synonyms":["Синдром FXTAS"],"definition":"Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia."},"zh":{"name":"脆性X相关震颤/共济失调综合征","synonyms":["FXTAS综合征"],"definition":"脆性X染色体相关的震颤/共济失调综合征（FXTAS）是一种罕见的神经退行性疾病，其特征是成人期发病、进行性进展的意向性震颤和步态共济失调。"},"tr":{"name":"Frajil X-ilişkili tremor / ataksi sendromu","synonyms":["FXTAS sendromu"]}},"xrefs":[{"source":"OMIM","code":"300623","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"42467602"},{"source":"MONDO","code":"0010382","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564105","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1839780","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":307061,"name":"Rare genetic tremor disorder","classifications":[156]},{"orpha":306712,"name":"Rare tremor disorder","classifications":[181]},{"orpha":247765,"name":"X-linked cerebellar ataxia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"FMR1","name":"fragile X messenger ribonucleoprotein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":null,"hgnc":"3775","ensembl":"ENSG00000102081","omim":"309550","loci":["Xq27.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"United States","status":"Validated","source":"15000674[PMID]_17166801[PMID]_ [EXPERT]"},{"type":"Lifetime Prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.3,"area":"United States","status":"Validated","source":"15000674[PMID]_17166801[PMID]_ [EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-09","source":"20301558[PMID]_24491663[PMID]_18686748[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030216","label":"Inertia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100275","label":"Diffuse cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012534","label":"Dysesthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000802","label":"Impotence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100515","label":"Pollakisuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012083","label":"Ubiquitin-positive cerebral inclusion bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002839","label":"Urinary bladder sphincter dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002363","label":"Abnormal brainstem morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Occasional (29-5%)","criteria":null}]}}