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CPT2. Mixed connective tissue disease, commonly abbreviated as MCTD, is an autoimmune disease characterized by the presence of elevated blood levels of a specific autoantibody, now called anti-U1 ribonucleoprotein (RNP), together with a mix of symptoms of systemic lupus erythematosus (SLE), scleroderma, and polymyositis. [2]
3 per 100,000 per year (systemic) [3] Scleroderma is a group of autoimmune diseases that may result in changes to the skin, blood vessels, muscles, and internal organs. [2] [6] [8] The disease can be either localized to the skin or involve other organs, as well. [2] Symptoms may include areas of thickened skin, stiffness, feeling tired, and ...
Neurology. Primary familial brain calcification [1] (PFBC), also known as familial idiopathic basal ganglia calcification ( FIBGC) and Fahr's disease, [1] is a rare, [2] genetically dominant or recessive, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement.
Symptoms. dry eyes, dry mouth, hair loss, joint inflammation, joint pain, mouth ulcers, positive ANA test, raynaud's phenomenon, sun-sensitive rash... Undifferentiated connective tissue disease ( UCTD) (also known as latent lupus or incomplete lupus [1]) is a disease in which the connective tissues are targeted by the immune system.
Less than 1 in 30,000. Common variable immunodeficiency ( CVID) is an inborn immune disorder characterized by recurrent infections and low antibody levels, specifically in immunoglobulin (Ig) types IgG, IgM, and IgA. [2] Symptoms generally include high susceptibility to pathogens, chronic lung disease, as well as inflammation and infection of ...
Mastocytosis, a type of mast cell disease, is a rare disorder affecting both children and adults caused by the accumulation of functionally defective mast cells (also called mastocytes) and CD34 + mast cell precursors. [1]
Systemic scleroderma, or systemic sclerosis, is an autoimmune rheumatic disease characterised by excessive production and accumulation of collagen, called fibrosis, in the skin and internal organs and by injuries to small arteries. There are two major subgroups of systemic sclerosis based on the extent of skin involvement: limited and diffuse.
Machado–Joseph disease ( MJD ), also known as Machado–Joseph Azorean disease, Machado's disease, Joseph's disease or spinocerebellar ataxia type 3 ( SCA3 ), is a rare autosomal dominantly inherited neurodegenerative disease that causes progressive cerebellar ataxia, [1] [2] which results in a lack of muscle control and coordination of the ...