Diseases

Schimke Immunoosseous Dysplasia

schimke immunoosseous dysplasia

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Description: NCI2016_02D:A rare genetic syndrome characterized by autoantibodies production against more than one endocrine organ. The range of endocrinopathies includes hypoparathyroidism, adrenal insufficiency, hypogonadism, type 1 diabetes mellitus and hypothyroidism.|MSH2017_2016_08_12:Autoimmune diseases affecting multiple endocrine organs. Type I is characterized by childhood onset and chronic mucocutaneous candidiasis (CANDIDIASIS, CHRONIC MUCOCUTANEOUS), while type II exhibits any combination of adrenal insufficiency (ADDISON'S DISEASE), lymphocytic thyroiditis (THYROIDITIS, AUTOIMMUNE;), HYPOPARATHYROIDISM; and gonadal failure. In both types organ-specific ANTIBODIES against a variety of ENDOCRINE GLANDS have been detected. The type II syndrome differs from type I in that it is associated with HLA-A1 and B8 haplotypes, onset is usually in adulthood, and candidiasis is not present.|CHV2011_02:an autoimmune diseases affecting multiple endocrine organs|CHV2011_02:an autoimmune diseases affecting multiple endocrine organs|CHV2011_02:an autoimmune diseases affecting multiple endocrine organs|CHV2011_02:an autoimmune diseases affecting multiple endocrine organs

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ankyrin repeat and sterile alpha motif domain containing 4B

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