Mixed Connective Tissue Disease

About the Disease
Mixed Connective Tissue Disease, also known as sharp syndrome, is related to raynaud disease and systemic scleroderma. An important gene associated with Mixed Connective Tissue Disease is SNRNP70 (Small Nuclear Ribonucleoprotein U1 Subunit 70), and among its related pathways/superpathways are MIF Mediated Glucocorticoid Regulation and Processing of Capped Intron-Containing Pre-mRNA. The drugs Rituximab and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include lung, kidney and skin, and related phenotypes are arthritis and gastroesophageal reflux

Common Targets
HLA-B | MRPL39 | HLA-DRB1 | MIR145 | MIR155HG | IL17F | IL10 | MIR146A | CARMN

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Sleep Disorder | Osteomalacia | Sensorineural Hearing Loss | Beare-Stevenson Syndrome | Danon Disease | Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form | Chronic Idiopathic Myelofibrosis | Plasmacytoma | Chondrodysplasia Punctata 1, X-linked Recessive | Bullous Pemphigoid | Osteogenesis Imperfecta | Pantothenate Kinase-associated Neurodegeneration | Juvenile Xanthogranuloma | Hyperglycemia | Microcephalic Osteodysplastic Primordial Dwarfism, Type II | Leukemia-lymphoma, Adult T-cell | Temtamy Preaxial Brachydactyly Syndrome | Pneumococcal Meningitis | Coronary Restenosis | Encephalitis | Early Infantile Epileptic Encephalopathy | Osteogenesis Imperfecta Type III | Uremic Pruritus | Triple A Syndrome | Rhabdomyosarcoma | Myositis | Goldenhar Syndrome | Budd-Chiari Syndrome | Hereditary Inclusion Body Myopathy | Meckel-Gruber Syndrome | Hypokalemic Periodic Paralysis | Chronic Leukemia | Nephropathy | Carcinoma, Squamous Cell | Hepatitis A | Atherosclerosis | Hemolytic 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Bullosa Simplex, Dowling-Meara Type | Myoclonus | Thalassemia | Familial Hyperaldosteronism | Neutropenia | Fetal Alcohol Syndrome | Carpenter Syndrome | Adenosine Deaminase 2 Deficiency | Iron Metabolism Disorders | Early Infantile Epileptic Encephalopathy 4 | L-2-Hydroxyglutaric Aciduria | Pulmonary Vein Stenosis | Hemimegalencephaly | COACH Syndrome | Microphthalmia | Arthritis | HIBCH Deficiency | Chronic Neutrophilic Leukemia | Borderline Personality Disorder | Charcot-Marie-Tooth Disease Type 2D | Renal Dysplasia | Myotonic Disorders | Nager Acrofacial Dysostosis | Glycogen Storage Disease Type 0 | Hyperparathyroidism, Primary | Intestinal Tuberculosis | Allan-Herndon-Dudley Syndrome | Chloridorrhea, Congenital | Micro Syndrome | Thrombosis | Strabismus | Hyperlipidemia, Familial Combined | Parkinson Disease 6, Autosomal Recessive Early-onset | Citrullinemia | Congenital Heart Defects | Camptocormia | Hypertriglyceridemia | Ureteropelvic Junction Obstruction | Amelanotic Melanoma 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Fragility-woolly Hair Syndrome | 17-beta-hydroxysteroid Dehydrogenase X Deficiency | Facioscapulohumeral Muscular Dystrophy | Intracranial Hypertension | Neurofibromatosis Type 1 | Spinocerebellar Ataxia Type 17 | Keratocystic Odontogenic Tumor | Creatine Deficiency Syndrome | Celiac Disease | Tracheal Disorders | Vascular Calcification | Tatton-Brown-Rahman Syndrome | Cardiomyopathy, Dilated, 1L | Autosomal Recessive Spastic Paraplegia Type 54 | DNA Ligase IV Deficiency | Glomerulonephritis, Membranoproliferative | Renal Hypouricemia | Infantile Spasm | Zimmermann-Laband Syndrome | Mosaic Variegated Aneuploidy Syndrome 2 | Hyperparathyroidism-jaw Tumor Syndrome | Trachoma | Priapism | Craniometaphyseal Dysplasia | Dysfibrinogenemia | Sialoadenitis | Arthrogryposis | Multifocal Motor Neuropathy | Adenoma, Pituitary | N-acetylglutamate Synthase Deficiency | Odonto-onycho-dermal Dysplasia | Chronic Mucocutaneous Candidiasis | Dyslipidemia | Arterial Tortuosity Syndrome | Usher Syndrome 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