Triple A syndrome

Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima. Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to ...1

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Symptoms of Triple A syndrome

Symptoms: Triple A syndrome is characterized by three specific features: achalasia, Addison disease, and alacrima (reduced or absent ability to secrete tears). Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries ...2

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Causes of Triple A syndrome

Cause: Mutations in the AAAS gene cause triple A syndrome in many affected individuals. This gene provides instructions for making a protein called ALADIN, whose function is not well understood. Within cells, ALADIN is found in the nuclear envelope, the ...3

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Types of Triple A syndrome

Some types of this condition may include:4 Types of Triple A syndrome:

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Genetics of Triple A syndrome

Genetic Changes: Mutations in the AAAS gene cause triple A syndrome . This gene provides instructions for making a protein called ALADIN whose function is not well understood. Within cells, ALADIN is found in the nuclear envelope, the structure that surrounds ...5

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Treatments: Triple A syndrome

Treatment: There is no cure for triple A syndrome at this time; treatment typically focuses on managing individual signs and symptoms of the condition. Glucocorticoid deficiency in individuals with known adrenal insufficiency (present with Addison disease) is typically treated by ...6

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Names and Terminology

Other Names for This Condition

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ triple-a-syndrome
  2. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 457/ triple-a-syndrome
  3. ibid.
  4. Source: NCI Thesaurus
  5. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ triple-a-syndrome
  6. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 457/ triple-a-syndrome

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