{"orpha":1764,"name":"Familial dysautonomia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HSAN3","Hereditary sensory and autonomic neuropathy type 3","Hereditary sensory and autonomic neuropathy type III","Riley-Day syndrome"],"definition":"A rare hereditary sensory and autonomic neuropathy characterized by decreased pain and temperature perception, absent deep tendon reflexes, proprioceptive ataxia, afferent baroreflex failure and progressive optic neuropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1764/","orphanet_url":"https://www.orpha.net/en/disease/detail/1764","names":{"fr":{"name":"Dysautonomie familiale","synonyms":["HSAN3","NHSA3","Neuropathie héréditaire sensitive et autonomique type 3","Neuropathie héréditaire sensitive et autonomique type III","Syndrome de Riley-Day"],"definition":"Neuropathie héréditaire sensitive et autonomique rare caractérisée par une altération de la perception de la douleur et de la température, une absence de réflexes tendineux profonds, une ataxie proprioceptive, une défaillance des barorécepteurs concernés et une neuropathie optique progressive."},"de":{"name":"Dysautonomie, familiäre","synonyms":["HSAN3","Neuropathie, autonome hereditäre sensorische, Typ 3","Neuropathie, autonome hereditäre sensorische, Typ III","Riley-Day Syndrom"],"definition":"Eine seltene hereditäre sensorische und autonome Neuropathie, die durch verminderte Schmerz- und Temperaturwahrnehmung, fehlende tiefe Sehnenreflexe, propriozeptive Ataxie, Ausfall des afferenten Baroreflexes und progressive Optikusneuropathie gekennzeichnet ist."},"es":{"name":"Disautonomía familiar","synonyms":["HSAN3","Neuropatía sensitiva autonómica hereditaria tipo 3","Neuropatía sensitiva autonómica hereditaria tipo III","Síndrome de Riley-Day"],"definition":"Es una neuropatía hereditaria sensitiva y autonómica poco frecuente caracterizada por una disminución de la percepción dolorosa y de la temperatura, ausencia de reflejos tendinosos profundos, ataxia propioceptiva, alteración del barorreflejo aferente y neuropatía óptica progresiva."},"it":{"name":"Disautonomia familiare","synonyms":["Neuropatia autonomica e sensoriale ereditaria, tipo 3","Sindrome di Riley-Day"],"definition":"Si tratta di una neuropatia sensoriale ed autonoma ereditaria rara, caratterizzata dalla riduzione della percezione del dolore e della temperatura, dall'assenza dei riflessi tendinei profondi, dall'atassia propriocettiva, dal deficit del riflesso barocettivo afferente e dalla neuropatia ottica progressiva."},"nl":{"name":"Familiale dysautonomie","synonyms":["Erfelijke sensorische en autonome neuropathie type 3","Erfelijke sensorische en autonome neuropathie type III","HSAN 3","Syndroom van Riley-Day"],"definition":"Een zeldzame erfelijke sensorische en autonome neuropathie gekarakteriseerd door verminderde gewaarwording van pijn en temperatuur, afwezige diepe peesreflexen, proprioceptieve ataxie, falen van de afferente baroreflex en progressieve opticusneuropathie."},"pt":{"name":"Disautonomia familiar","synonyms":["Neuropatia autonómica e sensitiva hereditária tipo 3","Síndrome Riley-Day"]},"pl":{"name":"Dysautonomia rodzinna","synonyms":["HSAN3","Zespół Riley'a i Day'a","Dziedziczna neuropatia czuciowa i autonomiczna typu 3","Dziedziczna neuropatia czuciowa i autonomiczna typu III"]},"cs":{"name":"Familiární dysautonomie","synonyms":["HSAN3","Hereditární senzorická a autonomní neuropatie, typ III","Rileyův-Dayův syndrom","Riley-Dayův syndrom"]},"uk":{"name":"Сімейна дисавтономія","synonyms":["Спадкова сенсорна та автономна нейропатія типу 3","Спадкова сенсорна та автономна нейропатія III типу","HSAN3","Синдром Райлі-Дея"],"definition":"A rare hereditary sensory and autonomic neuropathy characterized by decreased pain and temperature perception, absent deep tendon reflexes, proprioceptive ataxia, afferent baroreflex failure and progressive optic neuropathy."},"zh":{"name":"家族性自主神经功能异常","synonyms":["遗传性感觉和自主神经病III型"]},"tr":{"name":"Ailesel disotonomi","synonyms":["HSAN3","Riley-Day sendromu","Kalıtsal duyusal ve otonom nöropati tip 3","Kalıtsal duyusal ve otonom nöropati tip III"]}},"xrefs":[{"source":"OMIM","code":"223900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G90.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"8C21.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"831377479"},{"source":"MONDO","code":"0009131","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D004402","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0013364","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7581","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10039179","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140477,"name":"Autosomal recessive hereditary sensory and autonomic neuropathy","classifications":[156,181]},{"orpha":98604,"name":"Congenital alacrima","classifications":[156,189]},{"orpha":448426,"name":"Genetic primary orthostatic hypotension","classifications":[156]},{"orpha":79381,"name":"Other dermis disorder","classifications":[187]},{"orpha":477808,"name":"Other genetic dermis disorder","classifications":[156]},{"orpha":182058,"name":"Primary orthostatic hypotension","classifications":[181]},{"orpha":519286,"name":"Rare disorder of the pupil","classifications":[189]},{"orpha":522568,"name":"Rare genetic disorder of the pupil","classifications":[156]}],"children":[],"genes":[{"symbol":"ELP1","name":"elongator complex protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301359[PMID]","hgnc":"5959","ensembl":"ENSG00000070061","omim":"603722","loci":["9q31.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":18.5,"area":"Specific population","status":"Validated","source":"27317387[PMID]_3652488[PMID]_4322121[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000615","label":"Abnormal pupil morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000522","label":"Alacrima","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002047","label":"Malignant hyperthermia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001278","label":"Orthostatic hypotension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200020","label":"Corneal erosion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002585","label":"Abnormality of the peritoneum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002103","label":"Abnormality of the pleura","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001063","label":"Acrocyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010885","label":"Avascular necrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100820","label":"Glomerulopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001100","label":"Heterochromia iridis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Occasional (29-5%)","criteria":null}]}}