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Scleroderma is caused by genetic and environmental factors. [ 4 ] [ 5 ] [ 17 ] [ 18 ] Mutations in HLA genes seem to play a crucial role in the pathogenesis of some cases; likewise silica , aromatic and chlorinated solvents, ketones , trichloroethylene , welding fumes, and white spirits exposure seems to contribute to the condition in a small ...
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 ...
A genetic mutation in FOXP3 that leads to autoimmune diseases, but not an autoimmune disorder itself. Ligneous conjunctivitis: No consistent evidence of association with autoimmunity. Majeed syndrome: No consistent evidence of association with autoimmunity. Narcolepsy: No evidence of association with autoimmunity. Research not reproducible ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Systemic sclerosis (progressive systemic scleroderma), a rare, chronic disease which affects the skin, and in some cases also blood vessels and internal organs. Tuberous sclerosis , a rare genetic disease which affects multiple systems.
Heredity, also called inheritance or biological inheritance, is the passing on of traits from parents to their offspring; either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents.
X-linked dominant traits do not necessarily affect males more than females (unlike X-linked recessive traits). The exact pattern of inheritance varies, depending on whether the father or the mother has the trait of interest. All fathers that are affected by an X-linked dominant disorder will have affected daughters but not affected sons.
Scleromyositis, is an autoimmune disease (a disease in which the immune system attacks the body). People with scleromyositis have symptoms of both systemic scleroderma and either polymyositis or dermatomyositis, and is therefore considered an overlap syndrome.