{"orpha":98916,"name":"Acute inflammatory demyelinating polyradiculoneuropathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AIDP","Acute idiopathic demyelinating polyneuropathy","Acute inflammatory polyneuropathy","GBS, acute inflammatory demyelinating polyradiculoneuropathic form","Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form"],"definition":"A rare inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barré syndrome (GBS).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98916/","orphanet_url":"https://www.orpha.net/en/disease/detail/98916","names":{"fr":{"name":"Polyradiculonévrite démyélinisante inflammatoire aiguë","synonyms":["PDIA","Polyneuropathie démyélinisante idiopathique aiguë","Polyneuropathie inflammatoire aiguë","SGB, forme polyradiculonévrite démyélinisante inflammatoire aiguë","Syndrome de Guillain-Barré, forme polyradiculonévrite démyélinisante inflammatoire aiguë"],"definition":"La polyradiculonévrite démyélinisante inflammatoire aiguë (PDIA) est une neuropathie inflammatoire appartenant au spectre clinique du syndrome de Guillain-Barré (SGB)."},"de":{"name":"Akute demyelinisierende inflammatorische Polyradikuloneuropathie","synonyms":["AIDP","Guillain-Barré-Syndrom, akute entzündliche polyradikuloneuritische Form","Polyneuropathie, akute demyelinisierende idiopathische","Polyneuropathie, akute inflammatorische"],"definition":"Die Akute entzündliche demyelinisierende Polyradikuloneuropathie (AIDP) ist eine entzündliche Neuropathie aus dem klinischen Spektrum des Guillain-Barré-Syndroms (GBS; s. dort)."},"es":{"name":"Polirradiculoneuropatía desmielinizante inflamatoria aguda","synonyms":["AIDP","GBS, forma polirradiculoneuropatía desmielinizante inflamatoria aguda","Polineuropatía desmielinizante idiopática aguda","Polineuropatía inflamatoria aguda","Síndrome de Guillain-Barré, forma polineuropatía desmielinizante idiopática aguda"],"definition":"Es una neuropatía inflamatoria que pertenece al espectro clínico del síndrome de Guillain-Barré (SGB)."},"it":{"name":"Poliradiculoneuropatia demielinizzante infiammatoria acuta","synonyms":["Polineuropatia demielinizzante idiopatica acuta","Polineuropatia infiammatoria acuta","Sindrome di Guillain-Barré, forma poliradiculoneuropatica demielinizzante infiammatoria acuta","AIDP","GBS, forma poliradiculoneuropatica demielinizzante infiammatoria acuta"]},"nl":{"name":"Acute inflammatoire demyeliniserende polyradiculoneuropathie","synonyms":["AIDP","Acute idiopathische demyeliniserende polyneuropathie","Acute inflammatoire polyneuropathie","GBS, acute inflammatoire demyeliniserende polyradiculoneuropathische vorm","Syndroom van Guillain-Barré, acute inflammatoire demyeliniserende polyradiculoneuropathische vorm"],"definition":"Een zeldzame inflammatoire neuropathie die behoort tot het klinische spectrum van syndroom van Guillain-Barré (GBS)."},"pt":{"name":"Polirradiculoneuropatia inflamatória aguda (aidp)","definition":"A polirradiculoneuropatia aguda desmielinizante inflamatória (AIDP) é uma neuropatia inflamatória pertencente ao espectro clínico do síndrome de Guillain-Barré (GBS; ver este termo)."},"pl":{"name":"Ostra zapalna poliradikuloneuropatia demielinizująca","synonyms":["AIDP","GBS, forma ostra zapalna demielinizująca poliradikuloneuropatyczna","Ostra idiopatyczna polineuropatia demielinizująca","Ostra zapalna polineuropatia","Zespół Guillaina i Barrégo, forma ostra zapalna demielinizująca poliradikuloneuropatyczna"]},"cs":{"name":"Akutní zánětlivá demyelinizační polyradikuloneuropatie","synonyms":["AIDP","Akutní idiopatická demyelinizační polyneuropatie","Akutní zánětlivá polyneuropatie","GBS, akutní zánětlivá demyelinizační polyradikuloneuropatická forma","Guillainův-Barrého syndrom, akutní zánětlivá demyelinizační polyradikuloneuropatická forma","Guillain-Barrého syndrom, akutní zánětlivá demyelinizační polyradikuloneuropatická forma"]},"uk":{"name":"Гостра запальна демієлінізуюча полірадикулонейропатія","synonyms":["Гостра ідіопатична демієлінізуюча полінейропатія","Гостра запальна полінейропатія","AIDP","GBS, гостра запальна демієлінізуюча полірадикулоневропатична форма","Синдром Гійєна-Барре, гостра запальна демієлінізуюча полірадикулоневропатична форма"],"definition":"A rare inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barré syndrome (GBS)."},"zh":{"name":"急性炎性脱髓鞘多发性神经根性神经病","synonyms":["吉兰巴雷综合征，急性炎性脱髓鞘多发性神经根型"],"definition":"该病是一种罕见的炎性神经病变，属于吉兰-巴雷综合征(GBS)的临床谱系。"},"tr":{"name":"Akut inflamatuar demiyelinizan poliradikülonöropati","synonyms":["AIDP","Akut inflamatuar polinöropati","Akut idiyopatik demiyelinizan polinöropati","GBS, akut inflamatuar demiyelinizan poliradikülonöropatik form","Guillain-Barré sendromu, akut inflamatuar demiyelinizan poliradikülonöropatik form"]}},"xrefs":[{"source":"OMIM","code":"139393","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G61.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C01.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1196874419"},{"source":"MONDO","code":"0020347","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551910","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":2103,"name":"Guillain-Barré syndrome","classifications":[181]}],"children":[],"genes":[{"symbol":"PMP22","name":"peripheral myelin protein 22","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"12439896[PMID]","hgnc":"9118","ensembl":"ENSG00000109099","omim":"601097","loci":["17p12"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.1,"area":"Europe","status":"Validated","source":"[EXPERT]_European Medicines Agency[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-09-24","source":"12439896[PMID]_1929520[PMID]","terms":[{"hpo":"HP:0007131","label":"Acute demyelinating polyneuropathy","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012534","label":"Dysesthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003445","label":"EMG: neuropathic changes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031162","label":"Impaired oropharyngeal swallow response","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001954","label":"Recurrent fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005335","label":"Sleepy facial expression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003383","label":"Onion bulb formation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Excluded (0%)","criteria":null}]}}