{"orpha":102,"name":"Multiple system atrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MSA","Multisystem atrophy"],"definition":"Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-102/","orphanet_url":"https://www.orpha.net/en/disease/detail/102","names":{"fr":{"name":"Atrophie multisystématisée","synonyms":["AMS","Atrophie multisystémique","MSA"],"definition":"L'atrophie multisystématisée (AMS) est une maladie neurodégénérative caractérisée par une défaillance autonomique (cardiovasculaire et/ou urinaire), des signes parkinsoniens, cérébelleux et pyramidaux avec une survie médiane de six à neuf ans."},"de":{"name":"Multiple Systematrophie","synonyms":["MSA","Multisystematrophie"],"definition":"Die Multisystematrophie (MSA) ist eine neurodegenerative Erkrankung mit Störung autonomer Funktionen (Herzkreislauf und/oder Harnblase), mit Parkinsonismus, Kleinhirnsymptomatik und kortiko-spinalen Zeichen. Die Patienten überleben im Mittel 6-9 Jahre."},"es":{"name":"Atrofia multisistémica","synonyms":["AMS"],"definition":"La atrofia multisistémica (AMS) es un trastorno neurodegenerativo caracterizado por una insuficiencia neurovegetativa (cardiovascular, urinaria o ambas), parkinsonismo, discapacidad cerebelosa y signos corticoespinales con una supervivencia media de entre seis y nueve años."},"it":{"name":"Atrofia sistemica multipla","synonyms":["Atrofia multisistemica","MSA"],"definition":"L'atrofia multisistemica (MSA) è una malattia neurodegenerativa caratterizzata da insufficienza del sistema autonomo (cardiovascolare e/o urinaria), parkinsonismo, anomalie cerebellari e segni corticospinali con una sopravvivenza media di 6-9 anni."},"nl":{"name":"Multipele systeematrofie","synonyms":["MSA","Multisysteematrofie"],"definition":"Meervoudige systeematrofie (MSA) is een neurodegeneratieve aandoening die wordt gekarakteriseerd door falen van autonome functies (cardiovasculair en/of urinair), parkinsonisme, aantasting van de kleine hersenen en indicaties aan de piramidebaan met een mediane overleving van 6-9 jaren."},"pt":{"name":"Atrofia sistémica múltipla"},"pl":{"name":"Zanik wieloukładowy","synonyms":["MSA"],"definition":"Zanik wieloukładowy (MSA) to zaburzenie neurodegeneracyjne charakteryzujące się niewydolnością układu autonomicznego (sercowo-naczyniową i(lub) moczową), parkinsonizmem, zaburzeniami móżdżkowymi i objawami korowo-rdzeniowymi ze średnim czasem przeżycia wynoszącym 6-9 lat."},"cs":{"name":"Mnohočetná systémová atrofie","synonyms":["MSA","Multisystémová atrofie"]},"uk":{"name":"Множинна системна атрофія","synonyms":["MSA","Мультисистемна атрофія"],"definition":"Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years."},"zh":{"name":"多系统萎缩","synonyms":["多系统萎缩"]},"tr":{"name":"Çoklu sistem atrofisi","synonyms":["MSA","Multisistem atrofisi"]}},"xrefs":[{"source":"OMIM","code":"146500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G23.2","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"G23.3","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8D87.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1890931931"},{"source":"MONDO","code":"0007803","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D019578","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0393571","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7079","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10064060","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":98932,"name":"OBSOLETE: Shy-Drager syndrome","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":306695,"name":"Miscellaneous movement disorder due to neurodegenerative disease","classifications":[181]},{"orpha":182058,"name":"Primary orthostatic hypotension","classifications":[181]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]}],"children":[{"orpha":227510,"name":"Multiple system atrophy, cerebellar type","type":"Clinical subtype"},{"orpha":98933,"name":"Multiple system atrophy, parkinsonian type","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"COQ2","name":"coenzyme Q2, polyprenyltransferase","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23758206[PMID]","hgnc":"25223","ensembl":"ENSG00000173085","omim":"609825","loci":["4q21.23"],"via":{"orpha":98933,"name":"Multiple system atrophy, parkinsonian type"}},{"symbol":"COQ2","name":"coenzyme Q2, polyprenyltransferase","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23758206[PMID]","hgnc":"25223","ensembl":"ENSG00000173085","omim":"609825","loci":["4q21.23"],"via":{"orpha":227510,"name":"Multiple system atrophy, cerebellar type"}}],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.7,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.5,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.8,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7,"area":"Iceland","status":"Validated","source":"23192520[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.4,"area":"Iceland","status":"Validated","source":"23192520[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.1,"area":"Sweden","status":"Validated","source":"20108376[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.4,"area":"United Kingdom","status":"Validated","source":"10577638[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"United States","status":"Validated","source":"9371909[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.9,"area":"France","status":"Validated","source":"10841152[PMID]_15272223[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.11,"area":"Russian Federation","status":"Validated","source":"20108378[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.9,"area":"Italy","status":"Validated","source":"9613728[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.3,"area":"Japan","status":"Validated","source":"20880268[PMID]_19169038[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.3,"area":"Faroe Islands","status":"Validated","source":"9270572[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-07","source":"18725592[PMID]_14747001[PMID]_23758206[PMID]_14219099[PMID]_14446364[PMID]","terms":[{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012658","label":"Abnormal brain FDG positron emission tomography","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002494","label":"Abnormal rapid eye movement sleep","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005341","label":"Autonomic bladder dysfunction","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008652","label":"Autonomic erectile dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002530","label":"Axial dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100595","label":"Camptocormia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010536","label":"Central sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030015","label":"Female anorgasmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000640","label":"Gaze-evoked nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002310","label":"Orofacial dyskinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004926","label":"Orthostatic hypotension due to autonomic dysfunction","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012670","label":"Orthostatic syncope","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002322","label":"Resting tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010307","label":"Stridor","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"}]}}