Disorder that is characterized by the presence of 2 of 3 major clinical symptoms: ADDISON DISEASE, and/or HYPOPARATHYROIDISM, and/or CHRONIC MUCOCUTANEOUS CANDIDIASIS. MALABSORPTION SYNDROMES and DIARRHEA are also common. Germline mutations in the AIRE gene have been identified. OMIM: 240300
Also Known As:
Autoimmune polyendocrinopathy syndrome, type 1; Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant; Autoimmune Polyendocrinopathy Syndrome, Type I, With Reversible Metaphyseal Dysplasia; Autoimmune polyendocrine syndrome, type 1; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED); Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis; Polyglandular Deficiency Syndrome, Persian-Jewish Type