idiopathic achalasia
Findings
No curated finding names idiopathic achalasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition.
Definition from the Mondo Disease Ontology (MONDO:0019635), read 2026-09-29. CC BY 4.0.
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- DysphagiaHPOHP:0002015
- Very frequent (80% to 99% of cases)
- BronchitisHPOHP:0012387
- Frequent (30% to 79% of cases)
- Chest painHPOHP:0100749
- Frequent (30% to 79% of cases)
- CoughHPOHP:0012735
- Frequent (30% to 79% of cases)
- Gastroesophageal refluxHPOHP:0002020
- Frequent (30% to 79% of cases)
- Weight lossHPOHP:0001824
- Frequent (30% to 79% of cases)
- Decreased circulating prealbumin concentrationHPOHP:0031085
- Occasional (5% to 29% of cases)
- MalnutritionHPOHP:0004395
- Occasional (5% to 29% of cases)
- Recurrent aspiration pneumoniaHPOHP:0002100
- Occasional (5% to 29% of cases)
- WheezingHPOHP:0030828
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
Other names
4 names
Resolves to: idiopathic achalasia
- Also called
- achalasia cardiaidiopathic achalasia of esophagusidiopathic achalasia of oesophagusprimary achalasia