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Start free with EleplanAutoimmune polyendocrinopathy type 1
ORPHA:3453Disease
Also called 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
What it is
A rare, genetic, disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.
Key facts
- Prevalence
- 1-9 / 100 000 (Finland)
- Age of onset
- Adolescent, Childhood
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
9Common30–79%
12- Anti-21-hydroxylase antibody positivity
- Anti-side-chain cleavage enzyme antibody positivity
- Cataract
- Decreased circulating vitamin B12 concentration
- Ectodermal dysplasia
- Enamel hypoplasia
- Hyperpigmentation of the skin
- Keratoconjunctivitis
- Opacification of the corneal stroma
- Photophobia
- Premature ovarian insufficiency
- Type I diabetes mellitus
Sometimes5–29%
17- Alopecia
- Asplenia
- Atrophic gastritis
- Corneal ulceration
- Hashimoto thyroiditis
- Hepatitis
- Hypogonadism
- Hypopigmented skin patches
and 9 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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