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The AAAS gene has been known to cause achalasia, alacrima, adrenal abnormalities and a progressive neurological syndrome. A considerable proportion of achalasia patients have been known to show alacrima (decreased secretion of tears). However, the genetic mechanism between achalasia and alacrima has not been defined yet. The investigators postulated that some proportions of early-onset achalasia could be correlated with AAAS gene; thus, the investigators aimed to investigate the relationship between the AAAS gene and early-onset achalasia.
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| Measure | Description | Time Frame |
|---|---|---|
| Genetic relationship between achalasia and AAAS gene |
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Inclusion Criteria:
Exclusion Criteria:
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Early age onset achalasia
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| ID | Term |
|---|---|
| D004931 | Esophageal Achalasia |
| C562827 | Alacrima |
| ID | Term |
|---|---|
| D015154 | Esophageal Motility Disorders |
| D003680 | Deglutition Disorders |
| D004935 | Esophageal Diseases |
| D005767 | Gastrointestinal Diseases |
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DNA and genetic analysis
| D004066 | Digestive System Diseases |