Autoimmune Polyendocrine Syndrome Type 1 (APS1)

Alias:

Autoimmune Hypoparathyroidism-Chronic Candidiasis-Addison Disease Syndrome

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome

Hypoparathyroidism-Addison Disease-Mucocutaneous Candidiasis Syndrome

Multiple Endocrine Deficiency-Addison Disease-Candidiasis Syndrome

Autoimmune Polyglandular Syndrome Type 1

Autoimmune Polyendocrinopathy Type 1

Whitaker Syndrome

Apeced Syndrome

Medac Syndrome

Ham Syndrome

Aps Type 1

Aps1

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

Polyglandular Type I Autoimmune Syndrome

Autoimmune Polyglandular Syndrome I

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Autoimmune Polyendocrine Syndrome Type 1, also known as autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome, is related to autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia and polyendocrinopathy, and has symptoms including diarrhea An important gene associated with Autoimmune Polyendocrine Syndrome Type 1 is AIRE (Autoimmune Regulator), and among its related pathways/superpathways are MAP kinase activation and Allograft rejection. The drugs Hydroxyurea and Glutamic acid have been mentioned in the context of this disorder. Affiliated tissues include eye and thyroid, and related phenotypes are visual impairment and photophobia

Related ID：

MALACARDS：ATM002