triple-A syndrome
Findings
No curated finding names triple-A syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.
Definition from the Mondo Disease Ontology (MONDO:0009279), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
36 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.
- AchalasiaHPOHP:0002571
- 17 of 17 reported patients
- Very frequent (80% to 99% of cases)
- Adrenal insufficiencyHPOHP:0000846
- 15 of 17 reported patients
- Very frequent (80% to 99% of cases)
- AlacrimaHPOHP:0000522
- Very frequent (80% to 99% of cases)
- Generalized hyperpigmentationHPOHP:0007440
- Very frequent (80% to 99% of cases)
- CoughHPOHP:0012735
- Frequent (30% to 79% of cases)
- Decreased circulating cortisol levelHPOHP:0008163
- Frequent (30% to 79% of cases)
Show the remaining 24
- Impaired cortisol response to corticotropin releasing hormone stimulation testHPOHP:0031078
- Frequent (30% to 79% of cases)
- Increased circulating ACTH levelHPOHP:0003154
- Frequent (30% to 79% of cases)
- Palmoplantar keratodermaHPOHP:0000982
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- VomitingHPOHP:0002013
- Frequent (30% to 79% of cases)
- Weight lossHPOHP:0001824
- Frequent (30% to 79% of cases)
Genes
4 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.
- AAASHGNC:13666
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- NDC1HGNC:25525
- Strong · PanelApp Australia · Autosomal recessive · 2025
- GMPPAHGNC:22923
- Supportive · Orphanet · Autosomal recessive · 2021
- TRAPPC11HGNC:25751
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
9 names
Resolves to: triple-A syndrome
- Also called
- 2A syndrome3A syndrome4A syndromeAAA syndromeachalasia-addisonianism-alacrima syndromeadrenal insufficiency-achalasia-alacrima syndromeAllgrove syndromeDouble A syndromequaternary A syndrome