| Disease ID | Source | Name | Description |
| 231550 | OMIM | Achalasia-addisonianism-alacrima syndrome (AAAS) | An autosomal recessive disorder characterized by adreno-corticotropic hormone (ACTH)-resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system. Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present. The disease is caused by variants affecting the gene represented in this entry. |