Achalasia Addisonianism Alacrima syndrome

Definition

Achalasia-Addisonianism-Alacrima (AAA) syndrome, also known as triple-A syndrome, is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic instability caused by mutation in the AAAS gene on 12q13. Recently, it has been reported that mutations in GMPPA cause alacrima, achalasia, and mental retardation syndrome (AAMR), that shows similarity to the triple A syndrome.

References:

[1]. Brian P Brooks, et al. Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report. BMC Ophthalmol. 2004 Jun 24;4:7. [Content Brief]

[2]. Cristhianna Viesti Advincula Collares, et al. Heterogeneity in the molecular basis of ACTH resistance syndrome. Eur J Endocrinol. 2008 Jul;159(1):61-8. [Content Brief]

[3]. Essam A Ismail, et al. Allgrove syndrome with features of familial dysautonomia: a novel mutation in the AAAS gene. Acta Paediatr. 2006 Sep;95(9):1140-3. [Content Brief]

[4]. Katrin Koehler, et al. Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. Am J Hum Genet. 2013 Oct 3;93(4):727-34. [Content Brief]

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