{"Name":"Idiopathic achalasia","DiseaseID__c":"GARD:0005708","id":5708,"encodedName":"idiopathic-achalasia","IsDeleted":false,"Disease_Name_Full__c":"Idiopathic achalasia","Xref_IDs__c":"715192004; C0859976; MEDGEN:798339; MONDO:0019635; ORPHA:930","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019635","Disease_Description__c":"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.","GARD_Name__c":"Idiopathic achalasia","GARD_Synonym__c":"achalasia cardia; idiopathic achalasia of esophagus; idiopathic achalasia of oesophagus; primary achalasia","Curated_Disease_Description_Source__c":"GARD:0005708","Curated_Disease_Description__c":"Achalasia is a disorder of the esophagus, the tube that carries food from the mouth to the stomach. It is characterized by enlargement of the esophagus, impaired ability of the esophagus to push food down toward the stomach (peristalsis), and failure of the ring-shaped muscle at the bottom of the esophagus (the lower esophageal sphincter) to relax. The exact etiology is unknown, however, symptoms are caused by damage to the nerves of the esophagus. Familial studies have shown evidence of a potential genetic influence. When a genetic influence is suspected, achalasia is called familial esophageal achalasia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:930","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019635","ORPHANET_ID__c":"ORPHA:930","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Acalasia idiopática","Spanish_Description_Source__c":"ORPHA:930","Spanish_Description__c":"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.","Spanish_Disease_Name__c":"acalasia idiopática","Spanish_GARD_Synonym__c":"acalasia del cardias; acalasia idiopática del esófago; acalasia primaria","Category_Linearization__c":"ORPHA:97935","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Achalasia is a disorder of the esophagus, the tube that carries food from the mouth to the stomach. It is characterized by enlargement of the esophagus, impaired ability of the esophagus to push food down toward the stomach (peristalsis), and failure of the ring-shaped muscle at the bottom of the esophagus (the lower esophageal sphincter) to relax. The exact etiology is unknown, however, symptoms are caused by damage to the nerves of the esophagus. Familial studies have shown evidence of a potential genetic influence. When a genetic influence is suspected, achalasia is called familial esophageal achalasia.","Curated_Disease_Description_Source__c":"GARD:0005708","GARD_Synonym__c":"achalasia cardia; idiopathic achalasia of esophagus; idiopathic achalasia of oesophagus; primary achalasia","Name":"Idiopathic achalasia","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Association of Gastrointestinal Motility Disorders","Website__c":"https://www.agmdhope.org/"},{"Account_Name__c":"International Foundation for Functional Gastrointestinal Disorders","Website__c":"https://iffgd.org/"},{"Account_Name__c":"Guts UK!","Website__c":"https://gutscharity.org.uk/"},{"Account_Name__c":"Martin Mueller IV Achalasia Awareness Foundation, Inc","Website__c":"https://www.achalasiainfo.com/"},{"Account_Name__c":"Achalasia Awareness Organization","Website__c":"https://www.achalasiaawareness.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:930"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005708","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715192004","Source__c":"C0859976; MONDO:0019635","Xref__c":"715192004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=798339","Source__c":"C0859976","Xref__c":"MEDGEN:798339"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0859976","Source__c":"C0859976","Xref__c":"C0859976"},{"URL__c":"https://www.orpha.net/en/disease/detail/930","Source__c":"C0859976; MONDO:0019635; ORPHA:930","Xref__c":"ORPHA:930"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019635","Source__c":"GARD:0005708","Xref__c":"MONDO:0019635"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NOS1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CRLF1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/crlf1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:930","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:930","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012735","HPO_Synonym__c":"Cough; Coughing","HPO_Name__c":"Cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:930","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Concentration of prealbumin in the blood circulation below the lower limit of normal. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031085","HPO_Synonym__c":"Decreased prealbumin level","HPO_Name__c":"Decreased circulating prealbumin concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:930","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100749","HPO_Synonym__c":"Chest pain; Thoracic pain","HPO_Name__c":"Chest pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:930","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deficiency in the intake of energy and nutrients.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004395","HPO_Synonym__c":"Malnutrition","HPO_Name__c":"Malnutrition","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:930","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002100","HPO_Synonym__c":"Recurrent pneumonia due to aspiration,","HPO_Name__c":"Recurrent aspiration pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:930","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A high-pitched whistling sound associated with labored breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030828","HPO_Synonym__c":"Wheezing","HPO_Name__c":"Wheezing","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:930","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:930","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002020","HPO_Synonym__c":"Acid reflux; Acid reflux disease; Gastro-esophageal reflux; Gastroesophageal reflux disease; GERD; GORD; Heartburn","HPO_Name__c":"Gastroesophageal reflux","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:930","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012387","HPO_Name__c":"Bronchitis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Gastroenterology"],"Specialist":["Gastroenterology","Pediatrics"]},"synonyms":["achalasia cardia"," idiopathic achalasia of esophagus"," idiopathic achalasia of oesophagus"," primary achalasia"]}