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GENATLAS PHENOTYPE
last update : 29-01-2009
Symbol AAAS
Location 12q13.13
Name ACTH resistant adrenal insufficiency
Other name(s)
  • achalasia, addisonianism, alacrima syndrome
  • Allgrove syndrome
  • triple A syndrome
    • Corresponding gene AAAS
    Other symbol(s) AAA
    Main clinical features
  • failure to thrive, weakness and fatigue, or adrenal crisis with achalasia of the oesophageal cardia and alacryma, progressive neurologic symptoms associated with pupil and cranial nerve abnormalities, frequent optic atrophy, distal motor neuropathy and amyotrophy
    • Genetic determination autosomal recessive
    Related entries . including cerebellar ataxia, and mild dementia, progressive axonal motor neuropathy, and with predominant wasting of hypothenars and calves
    Function/system disorder digestive tract/gastrointestinal
    eye
    endocrinology
    Type disease
    Gene product
    Name aladin
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   truncated protein R194X causing protein mislocalization in the cytoplasm
    unknown     mutation I482S, having no effect on imports of KPNB2, RANBP5, histone H1/importin 7, the ubiquitin conjugating enzyme UbcM2/importin 11, or the spliceosome protein U1A, indicating selectively impaired transport of discrete import complexes through nuclear pore complex histone, causing selective failure of nuclear protein import and hypersensitivity to oxidative stress
    unknown     R155P in exon 6
    Remark(s)