Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia (APS1)

Alias:

Apeced

Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

Polyglandular Autoimmune Syndrome, Type 1

Pga I

Aps1

Hypoadrenocorticism with Hypoparathyroidism and Superficial Moniliasis

Polyglandular Type I Autoimmune Syndrome

Autoimmune Polyendocrine Syndrome 1, with or Without Reversible Metaphyseal Dysplasia

Polyendocrinopathy Autoimmune, Type 1, with/without Reversible Metaphyseal Dysplasia

Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy

Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant

Autosomal Dominant Autoimmune Polyendocrinopathy Syndrome Type I

Polyglandular Deficiency Syndrome Persian-Jewish Type

Autoimmune Polyendocrinopathy Syndrome Type 1

Autoimmune Polyendocrinopathy Syndrome Type I

Autoimmune Polyglandular Syndrome, Type I

Polyglandular Autoimmune Syndrome, Type I

Autoimmune Polyglandular Syndrome, Type 1

Autoimmune Polyendocrine Syndrome Type I

Polyglandular Autoimmune Syndrome Type I

Whitaker Syndrome

Aire Deficiency

Aps Type 1

Aps I

Aps-1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia, also known as apeced, is related to autoimmune polyendocrine syndrome, type ii and autoimmune polyendocrine syndrome type 1, and has symptoms including diarrhea An important gene associated with Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia is AIRE (Autoimmune Regulator), and among its related pathways/superpathways are Metabolism and Oxidation by cytochrome P450. The drugs Hydroxyurea and Glutamic acid have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland and skin, and related phenotypes are pigmentary retinopathy and constriction of peripheral visual field

Related ID：

MALACARDS：ATM096

OMIM：240300

MESH：D016884