AIRE

autoimmune regulator
OMIM: 607358
PanelMode of inheritanceDetails
6 panels
R-numbers: R150
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ideopathic Primary Adrenal Failure, Congenital Adrenal Hypoplasia
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 240300
R-numbers: R153
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia 240300
R-numbers: R15
Signed-off version 2.1
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia, 240300, Chronic mucocutaneous candidiasis (CMC), Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), Autoimmune hypoparathyroidism chronic candidiasis Addison disease syndrome, Hypoparathyroidism Addison disease mucocutaneous candidiasis syndrome, Multiple endocrine deficiency Addison disease candidiasis syndrome, Autoimmunity: hypoparathyroidism hypothyroidism, adrenal insufficiency, diabetes, gonadal dysfunction and other endocrine abnormalities, chronic mucocutaneous candidiasis, dental enamel hypoplasia, alopecia areata enteropathy, pernicious anemia, Diseases of Immune Dysregulation
R-numbers: R332
Signed-off version 1.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, APS1
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300