{"orpha":217396,"name":"Progressive polyneuropathy with bilateral striatal necrosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-217396/","orphanet_url":"https://www.orpha.net/en/disease/detail/217396","names":{"fr":{"name":"Polyneuropathie progressive avec nécrose striatale bilatérale","definition":"Anomalie rare du métabolisme et du transport de la thiamine caractérisée par des épisodes récurrents de paralysie flasque et d'encéphalopathie, associés à une nécrose striatale bilatérale et à une polyneuropathie axonale chronique progressive avec faiblesse musculaire proximale et distale, aréflexie, contractures et déformations des pieds."},"de":{"name":"Polyneuropathie, progressive, mit bilateraler striataler Nekrose"},"es":{"name":"Polineuropatía progresiva con necrosis estriatal bilateral","definition":"Es un trastorno genético poco frecuente del metabolismo y transporte de la tiamina caracterizado por episodios recurrentes de parálisis fláccida y encefalopatía de inicio en la infancia, asociados a necrosis estriatal bilateral, polineuropatía axonal crónica progresiva con debilidad muscular proximal y distal, arreflexia, contracturas y deformidades del pie."},"it":{"name":"Polineuropatia progressiva con necrosi striatale bilaterale","definition":"La polineuropatia progressiva con necrosi striatale bilaterale è una malattia genetica rara del metabolismo e del trasporto della tiamina, che esordisce durante l'infanzia con episodi ricorrenti di paralisi flaccida ed encefalopatia, associati a necrosi striatale bilaterale e polineuropatia assonale progressiva cronica con debolezza dei muscoli prossimali e distali, areflessia, contratture e deformità dei piedi."},"nl":{"name":"Progressieve polyneuropathie met bilaterale striatale necrose","definition":"Progressieve polyneuropathie met bilaterale striatale necrose is een zeldzame, genetische stoornis van het thiaminemetabolisme en -transport, en wordt gekarakteriseerd door aanvang in de kindertijd van recurrente episodes van slappe verlamming en encefalopathie, geassocieerd met bilaterale striatale necrose en chronische progressieve axonale polyneuropathie met proximale en distale spierzwakte, areflexie, contracturen en voetmisvormingen."},"pt":{"name":"Polineuropatia progressiva com necrose do estriado bilateral"},"pl":{"name":"Postępująca demielinizująca neuropatia z obustronną martwicą prążkowia"},"cs":{"name":"Progresivní demyelinizační neuropatie s bilaterální nekrózou striata"},"uk":{"name":"Прогресуюча полінейропатія з двостороннім некрозом стріатуму","definition":"Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities."},"zh":{"name":"进行性多发性神经病伴双边纹状体坏死","definition":"进行性多发性神经病伴双侧纹状体坏死是一种罕见的与硫胺素代谢和转运相关的遗传性疾病，其特征是儿童时期反复发作的弛缓性麻痹和脑病，与双侧纹状体坏死和慢性进行性轴索性多发性神经病变相关，伴有近端和远端肌无力、反射消失、肌挛缩和足畸形。"},"tr":{"name":"Bilateral striatal nekroz ile seyreden ilerleyici polinöropati"}},"xrefs":[{"source":"OMIM","code":"613710","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5B5A.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013382","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"13382","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150973","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":298644,"name":"Disorder of thiamine metabolism and transport","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SLC25A19","name":"solute carrier family 25 member 19","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19798730[PMID]","hgnc":"14409","ensembl":"ENSG00000125454","omim":"606521","loci":["17q25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"19798730[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19798730[PMID]"}],"phenotypes":null}