{"orpha":397725,"name":"COASY protein-associated neurodegeneration","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CoPAN","NBIA6","Neurodegeneration with brain iron accumulation due to COASY mutation"],"definition":"COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-397725/","orphanet_url":"https://www.orpha.net/en/disease/detail/397725","names":{"fr":{"name":"Neurodégénérescence associée à la protéine COASY","synonyms":["CoPAN","NBIA6","Neurodégénérescence avec surcharge cérébrale en fer due à des mutations de COASY"],"definition":"Forme très rare et lentement progressive de neurodégénérescence avec surcharge cérébrale en fer (NBIA pour neurodegeneration with brain iron accumulation), caractérisée par les caractéristiques classiques de la NBIA. Les signes cliniques comprennent une paraparésie spastique-dystonique d'apparition précoce, une dystonie oromandibulaire, une dysarthrie, un parkinsonisme, une neuropathie axonale, des troubles cognitifs progressifs, des tics moteurs complexes et des troubles obsessionnels compulsifs."},"de":{"name":"COASY-Protein-assoziierte Neurodegeneration","synonyms":["CoPAN","NBIA6","Neurodegeneration mit Eisenspeicherung im Gehirn durch COASY-Genmutation"]},"es":{"name":"Neurodegeneración asociada con la proteína COASY","synonyms":["NBIA6","Neurodegeneración con acumulación cerebral de hierro por una mutación en el gen COASY","CoPAN"],"definition":"Es una forma muy poco frecuente de neurodegeneración por acúmulo cerebral de hierro (NBIA, por sus siglas en inglés) de progresión lenta que se presenta con las características clásicas del NBIA. Los hallazgos clínicos incluyen paraparesia distónica-espástica de inicio temprano, distonía oromandibular, disartria, parkinsonismo, neuropatía axonal, deterioro cognitivo progresivo, tics motores complejos y trastorno obsesivo-compulsivo."},"it":{"name":"Neurodegenerazione associata alla proteina COASY","synonyms":["CoPAN","NBIA6","Neurodegenerazione con accumulo cerebrale di ferro da mutazione di COASY"],"definition":"La neurodegenerazione associata alla proteina COASY (CoPAN) è una forma molto rara di neurodegenerazione, a progressione lenta, con accumulo di ferro nel cervello (NBIA). È caratterizzata dai segni clinici tipici della NBIA, che comprendono la paraparesi spastico-distonica ad esordio precoce, la distonia oro-mandibolare, la disartria, il parkinsonismo, la neuropatia assonale, il deficit cognitivo progressivo, i tic motori complessi e il disturbo ossessivo-compulsivo."},"nl":{"name":"COASY-proteïnegeassocieerde neurodegeneratie","synonyms":["CoPAN","NBIA6","Neurodegeneratie met ijzerstapeling in de hersenen als gevolg van COASY-mutatie"],"definition":"COASY-proteïnegeassocieerde neurodegeneratie (CoPAN) is een zeer zeldzame, traag progressieve vorm van neurodegeneratie met accumulatie van ijzer in de hersenen (NBIA) en wordt gekarakteriseerd door klassieke kenmerken van NBIA. De klinische manifestaties omvatten vroeg aanvangende spastische-dystonische paraparese, oromandibulaire dystonie, dysartrie, parkinsonisme, axonale neuropathie, progressieve cognitieve beperkingen, complexe motorische tics, en obsessief-compulsieve stoornis."},"pt":{"name":"Neurodegenerescência associada à proteína COASY"},"pl":{"name":"Neurodegeneracja związana z białkiem COASY","synonyms":["CoPAN","NBIA6","Neurodegeneracja z magazynowaniem żelaza w mózgu z powodu mutacji COASY"]},"cs":{"name":"Neurodegenerace asociovaná COASY proteinem","synonyms":["CoPAN","NBIA6","Neurodegenerace s akumulací železa v mozku, způsobená mutacemi v genu COASY"]},"uk":{"name":"COASY протеїн-асоційована нейродегенерація","synonyms":["CoPAN","NBIA6","Нейродегенерація з накопиченням заліза в мозку через мутацію COASY"],"definition":"COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder."},"zh":{"name":"COASY蛋白相关神经退行性疾病","synonyms":["COASY突变所致神经退行性变伴脑铁积聚"],"definition":"COASY蛋白相关神经变性(CoPAN)是一种非常罕见的、缓慢进行性伴有脑铁积聚(NBIA)的神经变性，具有NBIA的典型特征。本病的临床表现包括早发性痉挛性张力障碍、口颌肌张力障碍、构音障碍、帕金森综合征、轴突神经病、进行性认知障碍、复杂运动性抽搐和强迫症。"},"tr":{"name":"COASY protein-ilişkili nörodejenerasyon","synonyms":["CoPAN","NBIA6","COASY mutasyonuna bağlı beyin demir birikimi ile seyreden nörodejenerasyon"]}},"xrefs":[{"source":"OMIM","code":"615643","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G23.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014290","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4517377","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12571","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":385,"name":"Neurodegeneration with brain iron accumulation","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"COASY","name":"Coenzyme A synthase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24360804[PMID]","hgnc":"29932","ensembl":"ENSG00000068120","omim":"609855","loci":["17q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"24360804[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24360804[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-13","source":"23447832[PMID]","terms":[{"hpo":"HP:0002339","label":"Abnormal caudate nucleus morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010994","label":"Abnormal corpus striatum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002453","label":"Abnormal globus pallidus morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010663","label":"Abnormality of thalamus morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002454","label":"Eye of the tiger anomaly of globus pallidus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012048","label":"Oromandibular dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Very frequent (99-80%)","criteria":null}]}}