Synonym(s): - 2A syndrome - 3A syndrome - 4A syndrome - AAA syndrome - Achalasia - addisonianism - alacrima syndrome - Adrenal insufficiency - achalasia - alacrima - Allgrove syndrome - Double A syndrome - Quaternary A syndrome
Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare neurologic disease Entire classification		Classification (ICD10): - Endocrine, nutritional and metabolic diseases - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive		External references: 2 OMIM references - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
AAAS	Q9NRG9	605378
GMPPA	Q96IJ6	615495

- Autosomal recessive inheritance
- Cortico-adrenal hypoplasia / insufficiency
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia
- Seizures / epilepsy / absences / spasms / status epilepticus

- Mild visual loss / impaired visual acuity
- Palmoplantar hyperkeratosis / keratoderma
- Short stature / dwarfism / nanism

- Ataxia / incoordination / trouble of the equilibrium
- Coloboma of iris
- Hypereflexia
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Hypotonia
- Microcephaly
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Psychic / psychomotor regression / dementia / intellectual decline
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Sensorineural deafness / hearing loss