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Start free with EleplanTriple A syndrome
ORPHA:869Disease
Also called 2A syndrome · 3A syndrome · 4A syndrome · AAA syndrome · Achalasia-addisonianism-alacrima syndrome · Adrenal insufficiency-achalasia-alacrima syndrome · Allgrove syndrome · Double A syndrome · Quaternary A syndrome
What it is
Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- All ages
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
14- Cough
- Decreased circulating cortisol level
- Failure to thrive in infancy
- Feeding difficulties in infancy
- Hypernasal speech
- Hypoglycemia
- Hypoglycemic seizures
- Hypotension
- Impaired cortisol response to corticotropin releasing hormone stimulation test
- Increased circulating ACTH level
- Palmoplantar keratoderma
- Short stature
- Vomiting
- Weight loss
Sometimes5–29%
16- Abnormality of the hypothenar eminence
- Ataxia
- Corneal ulceration
- Developmental regression
- Hyperreflexia
- Hypotonia
- Intellectual disability
- Keratoconjunctivitis sicca
and 8 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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