| Health / Medical Topics |
Allgrove Syndrome
A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused in some cases by mutations in the AAAS gene on chromosome 12 which encodes the ALADIN protein of nuclear pore complexes. Clinical signs usually appear during the first decade and include alacrima, achalasia, autonomic dysfunction and the sequelae of adrenocortical insufficiency: hypoglycemia and hypotension. For most patients, the clinical course includes a progression of neurologic disability and increased morbidity from autonomic dysfunction. (NCI Thesaurus)
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