{"orpha":441,"name":"Pure autonomic failure","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Bradbury-Eggleston syndrome","Idiopathic orthostatic hypotension","PAF","Pure dysautonomia","Pure idiopatic dysautonomia"],"definition":"A rare sporadic neurodegenerative disease characterized by slowly progressive symptoms of orthostatic hypotension (OH), and other symptoms of generalised dysautonomia related to the impairment of the sympathetic component of the autonomic nervous system.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-441/","orphanet_url":"https://www.orpha.net/en/disease/detail/441","names":{"fr":{"name":"Hypotension orthostatique idiopathique","synonyms":["Dysautonomie pure","Dysautonomie pure idiopathique","Dysautonomie pure primitive","Insuffisance autonome progressive","Syndrome de Bradbury-Eggleston"],"definition":"Maladie neurodégénérative sporadique rare caractérisée par des symptômes progressifs d'hypotension orthostatique (HO) et d'autres symptômes de dysautonomie généralisée liés à une altération de la composante sympathique du système nerveux autonome."},"de":{"name":"Dysautonomie, reine","synonyms":["Bradbury-Eggleston-Syndrom","Hypotension, idiopathische orthostatische","Orthostatischen Hypotension, idiopathische","PAF"],"definition":"Eine seltene sporadische neurodegenerative Erkrankung, die durch langsam fortschreitende Symptome der orthostatischen Hypotonie (OH) und andere Symptome einer generalisierten Dysautonomie gekennzeichnet ist, die mit der Beeinträchtigung der sympathischen Komponente des autonomen Nervensystems zusammenhängen."},"es":{"name":"Fallo autonómico puro","synonyms":["FAP","Hipotensión ortostática idiopática","Síndrome de Bradbury-Eggleston","Disautonomía pura"],"definition":"Es una enfermedad neurodegenerativa esporádica y poco frecuente, caracterizada por síntomas de hipotensión ortostática (HO) de progresión lenta y otros síntomas de disautonomía generalizada relacionados con la afectación del componente simpático del sistema nervioso autónomo."},"it":{"name":"Insufficienza pura del sistema autonomo","synonyms":["Disautonomia pura","Ipotensione ortostatica idiopatica","PAF","Sindrome di Bradbury-Eggleston"]},"nl":{"name":"Puur autonoom falen","synonyms":["Idiopathische orthostatische hypotensie","PAF","Pure dysautonomie","Pure idiopathische dysautonomie","Syndroom van Bradbury-Eggleston"],"definition":"Een zeldzame sporadische neurodegeneratieve aandoening, gekenmerkt door traag progressieve symptomen van orthostatische hypotensie (OH), en andere symptomen van gegeneraliseerde dysautonomie gerelateerd aan een stoornis van de sympathische component van het autonome zenuwstelsel."},"pt":{"name":"Falência autonómica pura","synonyms":["FAP","PAF"]},"pl":{"name":"Czysta niewydolność autonomiczna","synonyms":["Czysta dysautonomia","Czysta idiopatyczna dysautonomia","Idiopatyczna hipotensja ortostatyczna","PAF","Zespół Bradbury i Egglestona"]},"cs":{"name":"Idiopatická ortostatická hypotenze","synonyms":["Bradburyho-Egglestonuv syndrom","PAF","Bradburyho-Egglestonův syndrom","Čisté autonomní selhání","Čistá dysautonomie","Čistá idiopatická dysautonomie","Bradbury-Egglestonův syndrom"]},"uk":{"name":"Чиста вегетативна недостатність","synonyms":["Синдром Бредбері-Егглстона","Ідіопатична ортостатична гіпотензія","PAF","Чиста дисавтономія","Чиста ідіопатична дисавтономія"],"definition":"Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension."},"zh":{"name":"单纯性自主神经衰竭","synonyms":["特发性直立性低血压"]},"tr":{"name":"Saf otonom yetersizlik","synonyms":["PAF","Saf disotonomi","Bradbury-Eggleston sendromu","Saf idiyopatik disotonomi","İdiyopatik ortostatik hipotansiyon"]}},"xrefs":[{"source":"ICD-10","code":"G90.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8D84","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"734022291"},{"source":"MONDO","code":"0018608","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054970","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0393911","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10428","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":182058,"name":"Primary orthostatic hypotension","classifications":[181]},{"orpha":423662,"name":"Rare autonomic nervous system disorder","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2007[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-31","source":"15965200[PMID]","terms":[{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012099","label":"Abnormality of circulating catecholamine level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000970","label":"Anhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025142","label":"Constitutional symptom","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001278","label":"Orthostatic hypotension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100518","label":"Dysuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000802","label":"Impotence","frequency":"Occasional (29-5%)","criteria":null}]}}