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Autoimmune polyendocrinopathy type 2

Disease definition

A rare, endocrine disease characterized by autoimmune Addison disease associated with autoimmune thyroid disease or type I diabetes mellitus, or both, and without chronic candidiasis. Additional endocrine (hypogonadism, hypoparathyroidism) and non-endocrine diseases (vitiligo, autoimmune hepatitis, autoimmune gastritis, pernicious anemia, and myasthenia gravies) may be present.

ORPHA:3143

Classification level: Disorder
  • Synonym(s):
    • APS type 2
    • APS2
    • Autoimmune polyendocrine syndrome type 2
    • Autoimmune polyglandular syndrome type 2
    • Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome
    • Schmidt syndrome
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Adult
  • ICD-10: E31.0
  • ICD-11: 5B00
  • OMIM: 269200
  • UMLS: C0085860
  • MeSH: -
  • GARD: 7611
  • MedDRA: -

  A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018) Polski ()

Detailed information

Genetic Testing

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Newborn screening

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.