ITCH

itchy E3 ubiquitin protein ligase
OMIM: 606409
PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autoimmune disease, multisystem, with facial dysmorphism, 613385, Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), Syndromic multisystem autoimmune disease due to Itch deficiency, Early-onset chronic lung disease (interstitial pneumonitis), autoimmunity (thyroiditis, type I diabetes, chronic diarrhea/enteropathy, and hepatitis), failure to thrive, developmental delay, dysmorphic facial features, Diseases of Immune Dysregulation