Renal Tubulopathies and related disorders
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 (Neufeld et al., 1981). However, variable APS1 phenotypes have been observed, even among sibs. In addition, some patients may exhibit apparent isolated hypoparathyroidism, an early manifestation of APS1 with peak incidence at around age 5 years; over longterm follow-up, the development of additional features of APS1 may be observed
Sources: Expert listCreated: 28 Nov 2022, 9:18 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM #240300
Publications
AD inheritance has been reported in a single family (OMIM)
p.G228W has been shown to have a dominant-negative effect by binding to WT AIRE (OMIM)Created: 3 Mar 2020, 12:34 a.m. | Last Modified: 3 Mar 2020, 12:34 a.m.
Panel Version: 0.1590
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
Mode of pathogenicity
Other
Gene: aire has been classified as Green List (High Evidence).
gene: AIRE was added gene: AIRE was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: AIRE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AIRE were set to 35521792 Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM #240300