autoimmune polyendocrine syndrome type 1
Findings
No curated finding names autoimmune polyendocrine syndrome type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009411), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
76 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Anti-side-chain cleavage enzyme antibody positivityHPOHP:0034055
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Constriction of peripheral visual fieldHPOHP:0001133
- 3 of 3 reported patients
- Decreased circulating parathyroid hormone levelHPOHP:0031817
- 23 of 23 reported patients
- Hypocalcemic tetanyHPOHP:0003472
- 1 of 1 reported patient
- PancreatitisHPOHP:0001733
- 1 of 1 reported patient
- Pigmentary retinopathyHPOHP:0000580
- 5 of 5 reported patients
Show the remaining 64
- Abnormal circulating calcium-phosphate regulating hormone concentrationHPOHP:0100530
- Very frequent (80% to 99% of cases)
- Adrenal hyperplasiaHPOHP:0008221
- Very frequent (80% to 99% of cases)
- AutoimmunityHPOHP:0002960
- Very frequent (80% to 99% of cases)
- Decreased circulating aldosterone concentrationHPOHP:0004319
- Very frequent (80% to 99% of cases)
- Increased circulating cortisol levelHPOHP:0003118
- Very frequent (80% to 99% of cases)
- Reduced visual acuityHPOHP:0007663
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- AIREHGNC:360
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2022
- Definitive · Natera · Autosomal recessive · 2022
- Definitive · Natera · Autosomal dominant · 2022
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Semidominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
16 names
Resolves to: autoimmune polyendocrine syndrome type 1
- Also called
- AIRE autoimmune polyendocrinopathyAPECED syndromeAPS type 1APS1autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndromeautoimmune polyendocrinopathy caused by mutation in AIREautoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasiaautoimmune polyendocrinopathy-candidiasis-ectodermal dystrophyautoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndromeAutoimmune Polyglandular Syndrome Type 1ham syndromehypoparathyroidism-Addison disease-mucocutaneous candidiasis syndromeMEDAC syndromemultiple endocrine deficiency-Addison disease-candidiasis syndrome