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Autoimmune polyendocrinopathy type 1

Disease definition

Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.

ORPHA:3453

  • Synonym(s):
    • APECED syndrome
    • APS type 1
    • APS1
    • Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome
    • Autoimmune polyendocrine syndrome type 1
    • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
    • Autoimmune polyglandular syndrome type 1
    • HAM syndrome
    • Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome
    • MEDAC syndrome
    • Multiple endocrine deficiency-Addison disease-candidiasis syndrome
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adolescent
  • ICD-10: E31.0
  • OMIM: 240300
  • UMLS: C0085859  C3494489
  • MeSH: C538275
  • GARD: 8466
  • MedDRA: -
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