{"orpha":930,"name":"Idiopathic achalasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Achalasia cardia","Idiopathic achalasia of esophagus","Primary achalasia"],"definition":"Idiopathic achalasia (IA) is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-930/","orphanet_url":"https://www.orpha.net/en/disease/detail/930","names":{"fr":{"name":"Achalasie oesophagienne idiopathique","synonyms":["Achalasie du cardia","Achalasie idiopathique de l'oesophage","Achalasie primaire de l'oesophage","Achalasie primitive de l'oesophage","Mégaoesophage idiopathique"],"definition":"Trouble moteur primaire de l'oesophage caractérisé par une perte de péristaltisme oesophagien et une relaxation insuffisante du sphincter inférieur de l'oesophage (SIO) en réponse à la déglutition."},"de":{"name":"Achalasie, idiopathische","synonyms":["Achalasie, primäre","Idiopathische Achalasie des Ösophagus","Kardiaachalasie"],"definition":"Die idiopathische Achalasie (IA) ist eine primäre motorische Störung der Speiseröhre, die durch einen Verlust der Peristaltik der Speiseröhre und eine unzureichende Entspannung des unteren Schließmuskels der Speiseröhre (LES) als Reaktion auf die Schluckbewegung gekennzeichnet ist."},"es":{"name":"Acalasia idiopática","synonyms":["Acalasia del cardias","Acalasia idiopática del esófago","Acalasia primaria"],"definition":"La acalasia idiopática (AI) es un trastorno motor esofágico primario caracterizado por la pérdida de peristalsis esofágica y una relajación insuficiente del esfínter esofágico inferior (EEI) en respuesta a la deglución."},"it":{"name":"Acalasia idiopatica","synonyms":["Acalasia del cardias","Acalasia idiopatia dell'esofago","Acalasia primitiva"]},"nl":{"name":"Idiopathische achalasie","synonyms":["Achalasia cardia","Idiopathische achalasie van de slokdarm","Primaire achalasie"],"definition":"Idiopathische achalasie (IA) is een primaire oesofageale motorische stoornis die gekenmerkt wordt door verlies van peristaltiek van de slokdarm en onvoldoende relaxatie van de onderste slokdarmsfincter (LES) als reactie op slikken."},"pt":{"name":"Acalasia idiopática","synonyms":["Acalasia esofágica familiar"]},"pl":{"name":"Achalazja idiopatyczna","synonyms":["Achalazja wpustu","Idiopatyczna achalazja przełyku","Pierwotna achalazja przełyku"]},"cs":{"name":"Idiopatická achalázie","synonyms":["Achalázie kardie","Idiopatické achalázie jícnu","Primární achalázie","Ezofagokardiální achalázie"]},"uk":{"name":"Ідіопатична ахалазія","synonyms":["Ахалазія серця","Ідіопатична ахалазія стравоходу","Первинна ахалазія"],"definition":"Idiopathic achalasia (IA) is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition."},"zh":{"name":"特发性贲门失弛缓症","synonyms":["特发性食管失弛缓症"]},"tr":{"name":"İdiyopatik akalazya","synonyms":["Akalazya kardia","Primer akalazya","Yemek borusunun idiyopatik akalazisi"]}},"xrefs":[{"source":"OMIM","code":"200400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K22.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"DA21.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"396058084"},{"source":"MONDO","code":"0019635","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536011","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0859976","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5708","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10036669","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":99722,"name":"OBSOLETE: Sporadic achalasia","status":"inactive"},{"type":"Referred to","orpha":99723,"name":"OBSOLETE: Familial esophageal achalasia","status":"inactive"}],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":101936,"name":"Rare gastroesophageal disease","classifications":[152]}],"children":[],"genes":[{"symbol":"CRLF1","name":"cytokine receptor like factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27976805[PMID]","hgnc":"2364","ensembl":"ENSG00000006016","omim":"604237","loci":["19p12"]},{"symbol":"NOS1","name":"nitric oxide synthase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25479138[PMID]","hgnc":"7872","ensembl":"ENSG00000089250","omim":"163731","loci":["12q24.22"]},{"symbol":"HLA-DQA1","name":"major histocompatibility complex, class II, DQ alpha 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"24997987[PMID]","hgnc":"4942","ensembl":"ENSG00000196735","omim":"146880","loci":["6p21.32"]},{"symbol":"HLA-DQB1","name":"major histocompatibility complex, class II, DQ beta 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"24997987[PMID]","hgnc":"4944","ensembl":"ENSG00000179344","omim":"604305","loci":["6p21.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"23871090[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.0,"area":"Worldwide","status":"Validated","source":"11319059[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.82,"area":"Canada","status":"Validated","source":"20465592[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.29,"area":"Korea, Republic of","status":"Validated","source":"24753707[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":13.5,"area":"Ireland","status":"Validated","source":"3423207[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.7,"area":"Iceland","status":"Validated","source":"17420933[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.8,"area":"Singapore","status":"Validated","source":"10482430[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.59,"area":"Italy","status":"Validated","source":"21116729[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.73,"area":"Iceland","status":"Validated","source":"17420933[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Singapore","status":"Validated","source":"10482430[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.39,"area":"Korea, Republic of","status":"Validated","source":"24753707[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.63,"area":"Canada","status":"Validated","source":"20465592[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.77,"area":"Worldwide","status":"Validated","source":"11319059[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-06","source":"23871090[PMID]_31451984[PMID]","terms":[{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012387","label":"Bronchitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031085","label":"Decreased circulating prealbumin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004395","label":"Malnutrition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002100","label":"Recurrent aspiration pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030828","label":"Wheezing","frequency":"Occasional (29-5%)","criteria":null}]}}