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GENATLAS PHENOTYPE
last update : 12-07-2017
Symbol PGA1
Location 21q22.3
Name autoimmune polyglandular disease type I
Other name(s)
  • autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
  • Whitaker syndrome
    • Corresponding gene AIRE
    Other symbol(s) APECED, APS1
    Main clinical features
  • hypoparathyroidism, Addison, independent diabetes mellitus, gonadal failure, hypothyroidism, chronic candidiasis secondary to a T cell defect and ectodermal dysplasia mainly of the dental enamel, with enamel hypoplasia and nails (see TMEM1), pernicious anemia, hepatitis with autoantibodies against the affected organs (AIRE), may be associated to fat malabsorption with cholecystokinin deficiency
  • keratopathy can be an early and severe manifestation, which contributes to the global prognosis of the disease, onset of keratopathy ranged from 4 to 20 years; ocular symptoms varied from mild photophobia to severe pain, and visual acuity was from light perception to 20/20 Snellen equivalent (PMID: 26114819))
    • Genetic determination autosomal recessive
    Prevalence 1/129000
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name autoimmune regulator, AIRE
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/gain of function in the multimerization domain SAND, G228W, preventing the protein from forming the complexes needed for transactivation
    unknown   truncated protein prevalent R257X mutation
    Remark(s) . NLRP5-specific autoantibodies were detected in 49p100 of the patients with PGA1 and hypoparathyroidism but were absent in all patients with PGA1 but without hypoparathyroidism (PMID: 18322283))