{"orpha":401901,"name":"Huntington disease-like syndrome due to C9ORF72 expansions","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["C9ORF72-related Huntington disease phenocopy","C9ORF72-related Huntington disease-like syndrome","Huntington disease phenocopy due to C9ORF72 expansions"],"definition":"A rare, genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioral problems.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401901/","orphanet_url":"https://www.orpha.net/en/disease/detail/401901","names":{"fr":{"name":"Maladie de Huntington-like due à des expansions C9ORF72","synonyms":["Phénocopie de Huntington due à des expansions C9ORF72"],"definition":"Maladie neurodégénérative génétique rare caractérisée par des troubles du mouvement, à savoir dystonie, chorée, myoclonie, tremblements et rigidité. Les autres caractéristiques associées sont des troubles cognitifs et de la mémoire, ainsi que des troubles psychiatriques et des troubles du comportement de survenue précoce."},"de":{"name":"Chorea Huntington-ähnliches Syndrom durch C9ORF72-Expansionen","synonyms":["C9ORF72-abhängige Phänokopie der Huntington-Krankheit"]},"es":{"name":"Síndrome similar a la enfermedad de Huntington por expansiones de C9ORF72","synonyms":["Fenocopia de la enfermedad de Huntington asociada a C9ORF72","Fenocopia de la enfermedad de Huntington asociada al gen C9ORF72","Fenocopia de la enfermedad de Huntington por expansiones de C9ORF72","Síndrome de enfermedad de Huntington-like por expansiones de C9ORF72","Síndrome similar a la enfermedad de Huntington asociado a C9ORF72"],"definition":"El síndrome similar a la enfermedad de Huntington por expansiones en <i>C9ORF72</i> es una enfermedad neurodegenerativa genética poco frecuente, caracterizada por trastornos del movimiento que incluyen distonía, corea, mioclono, temblor y rigidez. Otras características asociadas son deterioro cognitivo y de la memoria, trastornos psiquiátricos tempranos y problemas conductuales."},"it":{"name":"Malattia simil-Huntington da espansioni di C9ORF72","synonyms":["Fenocopia della malattia di Huntington C9ORF72-correlata","Fenocopia della malattia di Huntington da espansioni di C9ORF72","Sindrome malattia di Huntington-simile correlata a C9ORF72"],"definition":"La malattia simil-Huntington da espansioni di C9ORF72 è una malattia neurodegenerativa genetica rara, caratterizzata da disturbi del movimento, che comprendono la distonia, la corea, il mioclono, il tremore e la rigidità. Altri segni clinici sono i deficit cognitivi e mnemonici, i disturbi psichiatrici precoci e i problemi comportamentali."},"nl":{"name":"Ziekte van Huntington-achtig syndroom door C9ORF72-expansies","synonyms":["C9ORF72-gerelateerd ziekte van Huntington-achtig syndroom","C9ORF72-gerelateerde ziekte van Huntington fenocopie"],"definition":"Ziekte van Huntington-achtig syndroom door C9ORF72-expansies is een zeldzame, genetische neurodegeneratieve ziekte die gekarakteriseerd wordt door bewegingsstoornissen, waaronder dystonie, chorea, myoclonus, tremor en rigiditeit. Cognitieve en geheugenstoornissen, vroege psychiatrische stoornissen en gedragsproblemen zijn ook geassocieerde kenmerken."},"pt":{"name":"Síndrome semelhante à doença de Huntington por expansões C9ORF72"},"pl":{"name":"Zespół podobny do choroby Huntingtona spowodowany ekspansją powtórzeń w genie C9ORF72","synonyms":["Fenokopia choroby Huntingtona z powodu ekspansji C9ORF72","Fenokopia choroby Huntingtona związana z C9ORF72","Zespół podobny do choroby Huntingtona związany z C9ORF72"],"definition":"*Zespół podobny do choroby Huntingtona spowodowany ekspansją powtórzeń w genie C9ORF72 jest rzadką, genetycznie uwarunkowaną chorobą neurodegeneracyjną, która charakteryzuje się zaburzeniami ruchowymi, w tym dystonią, pląsawicą, miokloniami, drżeniem i sztywnością. Do objawów towarzyszących należą: upośledzenie funkcji poznawczych i pamięci, zaburzenia psychiczne i behawioralne o wczesnym początku."},"cs":{"name":"Huntington disease-like syndrom způsobený expanzemi C9ORF72","synonyms":["C9ORF72-vázaná huntingtonská fenokopie","C9ORF72-asociovaný Huntigton´s disease-like syndrom","Huntingtonská fenokopie způsobená expanzemi C9ORF72","Syndrom podobný Huntingtonově chorobě, způsobený expanzemi C9ORF72","Syndrom podobný Huntingtonově chorobě, asociovaný C9ORF72"]},"uk":{"name":"Гантінгтон-подібний синдром, зумовлений експансією C9ORF72","synonyms":["C9ORF72-повязана фенокопія хвороби Хантінгтона","C9ORF72-повязаний синдром, подібний до хвороби Гантінгтона","Фенокопія хвороби Гантінгтона через експансії C9ORF72"],"definition":"A rare, genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioral problems."},"zh":{"name":"C9ORF72扩增导致的亨廷顿病样综合征","synonyms":["C9ORF72扩展所致亨廷顿病拟表型"],"definition":"C9ORF72扩展导致的亨廷顿疾病样综合征是一种罕见的遗传性神经系统退行性疾病，主要表现为运动功能障碍（包括张力障碍，舞蹈动作，肌阵挛，震颤以及强直。相关的其他临床症状包括认知障碍，记忆障碍，早期精神障碍以及行为问题。"},"tr":{"name":"C9ORF72 genişlemelerine bağlı Huntington hastalığı-benzeri sendrom","synonyms":["C9ORF72-ilişkili Huntington hastalığı fenokopisi","C9ORF72-ilişkili Huntington hastalığı benzeri sendromu","C9ORF72 genişlemelerine bağlı Huntington hastalığı fenokopisi"]}},"xrefs":[{"source":"ICD-10","code":"G10","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018425","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190586","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":276058,"name":"Genetic neurodegenerative disease with dementia","classifications":[156]},{"orpha":306719,"name":"Neurodegenerative disease with chorea","classifications":[156,181]},{"orpha":98534,"name":"Neurodegenerative disease with dementia","classifications":[181]}],"children":[],"genes":[{"symbol":"C9ORF72","name":"C9orf72-SMCR8 complex subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24363131[PMID]","hgnc":"28337","ensembl":"ENSG00000147894","omim":"614260","loci":["9p21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"24363131[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24363131[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-10-24","source":"25248608[PMID]_23934648[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000719","label":"Inappropriate behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002493","label":"Upper motor neuron dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Very rare (<4-1%)","criteria":null}]}}