Congenital Diarrhoea
Gene: AIRE
Autoimmune polyglandular syndrome type I is characterized by the presence of 2 of 3 major clinical symptoms: Addison disease, and/or hypoparathyroidism, and/or chronic mucocutaneous candidiasis. Malabsorption and diarrhoea can be very striking and even dominate the clinical picture.
Multiple families reported, the p.Arg257Ter variant is common.Created: 4 Jan 2021, 3 a.m. | Last Modified: 4 Jan 2021, 3 a.m.
Panel Version: 0.12
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Publications
Gene: aire has been classified as Green List (High Evidence).
Phenotypes for gene: AIRE were changed from to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Publications for gene: AIRE were set to
Mode of inheritance for gene: AIRE was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
gene: AIRE was added gene: AIRE was added to Congenital Diarrhoea_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AIRE was set to Unknown