Mutations of the AAAS gene in an Indian family with Allgrove's syndrome

Research output: Contribution to journalResearch articleContributedpeer-review


  • Ashis Mukhopadhya - , Christian Medical College (Author)
  • Sumita Danda - , Christian Medical College (Author)
  • Angela Huebner - , Department of Paediatrics (Author)
  • Ashok Chacko - , Christian Medical College (Author)


The triple A or Allgrove's syndrome is an autosomal recessive disorder characterized by the triad of achalasia cardia, alacrima and ACTH resistant adrenocortical insufficiency. Mutations of the Achalasia-Addisonianism-Alacrima-Syndrome (AAAS) gene on chromosome 12q13 are associated with this syndrome. We report an Indian family where two siblings were homozygous for a known mutation of the AAA5 gene and presented with the classical triad of symptoms. The mother and the brother were heterozygous and asymptomatic. The affected siblings had iron deficiency anemia and the younger sister had pes cavus and palmoplantar keratosis. Neurological symptoms were absent in both affected children. Recognition of this syndrome can lead to early treatment of adrenal insufficency and genetic counselling.


Original languageEnglish
Pages (from-to)4764-4766
Number of pages3
Journal World journal of gastroenterology : WJG
Issue number29
Publication statusPublished - 7 Aug 2006

External IDs

Scopus 33747675482
PubMed 16937455



  • Allgrove's syndrome, Autosomal recessive, Genetic mutation, India, Triple A syndrome