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Triple-A syndrome (Allgrove syndrome; Achalasia-Addisonianism-Alacrima)
AAAS, aladin (for 'alacrima-achalasia-adrenal insufficiency neurologic disorder'); aka adracalin
Triple-A (Allgrove) syndrome is a rare, autosomal recessive disorder characterized by the triad of familial adrenoinsufficiency due to corticotropin (ACTH) resistance, achalasia (swallowing difficulties), and alacrima (deficient secretion of tears). Other features include progressive peripheral and/or autonomic neuropathy, punctate palmoplantar keratoderma, dry mouth, angular cheilitis and fissured tongue, mild mental retardation, osteoporosis and, rarely, short stature. Life-threatening hypoglycemic episodes and severe feeding difficulties may ensue. Approximately one-half of all patients with Triple-A syndrome have been shown to have mutations in the AAAS gene on chromosome 12q13, which result in loss or non-function of the encoded Aladin protein, thus perturbing the normal development of neuroendocrine tissues as well as the peripheral and central nervous system.
Exons 1-16 of the AAAS gene are examined using bi-directional sequencing of DNA obtained from blood in EDTA or buccal (cheek) swabs. Mutations are of all types, and occur throughout the gene, with the majority being nonsense mutations. Carrier testing of relatives and prenatal diagnosis in at-risk pregnancies is available once the mutation(s) in a family have been defined.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
Allgrove Syndrome, Alacrima, achalasia, adrenal insufficiency;, Glucocorticoid Deficiency, ACTH-Resistance, ACTH, palmoplantar keratoderma;, peripheral neuropathy, autonomic dysfunction, amyotrophy, AAAS, aladin, Triple A, Triple-A,
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