Blau Syndrome

About the Disease
Blau Syndrome, also known as arthrocutaneouveal granulomatosis, is related to uveitis and sarcoidosis 1. An important gene associated with Blau Syndrome is NOD2 (Nucleotide Binding Oligomerization Domain Containing 2), and among its related pathways/superpathways are Innate Immune System and Disease. Affiliated tissues include skin, eye and kidney, and related phenotypes are arthralgia and joint swelling

Common Targets
Serine/Threonine Kinase (nonspecified subtype) | NOD2 | ACVR1 | G114548 | RIPK2

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Anti-glomerular Basement Membrane Disease | Optic Atrophy 2 | Hypertension, Renal | Leukocyte Adhesion Deficiency Type 1 | Epidermolysis Bullosa Simplex | Chronic Thromboembolic Pulmonary Hypertension | Epidermolytic Palmoplantar Keratoderma | Vertigo | Kawasaki Disease | Schistosomiasis Mansoni | Gerodermia Osteodysplastica | Glycogen Storage Disease Type 4 | Keratoconjunctivitis | Pelvic Inflammatory Disease | Nephronophthisis | Galloway-Mowat Syndrome | Vascular Calcification | Multiple Mitochondrial Dysfunctions Syndrome Type 1 | Lipid Metabolism Disorders | Bone Giant Cell Tumor | Esophageal Motility Disorders | Spasticity | Acne Vulgaris | Liver Failure, Acute Infantile | Glioblastoma | Familial Glucocorticoid Deficiency | Hypogonadism | Glycogen Storage Disease Type 9 | Obsessive-compulsive Disorder | Myasthenia | Polycythemia | Chronic Enteropathy Associated With SLCO2A1 Gene | Mycosis Fungoides | Pontocerebellar Hypoplasia | Diabetes Gestational | Spinocerebellar Ataxia Type 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