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Orphan definition
Orphan definition












Many types of poisoning could be listed as rare conditions, but often are not. For example, mesothelioma is a cancer typically caused by exposure to asbestos. Toxic agents: Exposure to natural or manufactured toxic substances can also cause rare diseases.

orphan definition

Infectious diseases can be rare but well publicized and feared (such as rabies, botulism and Rocky Mountain spotted fever), while others are truly obscure (such as Lemierre syndrome). Tuberculosis, for example, was common in wealthy countries before preventative measures and treatments were discovered and widely applied, but remains a major cause of morbidity and mortality in developing countries.

  • Infectious agents: Some infections are thought to be rare worldwide, while others are rare in wealthy countries but common in less economically developed countries.
  • They can be inherited or arise in sporadic or chance mutations. Sometimes one gene (as in alpha-1 antitrypsin deficiency) or multiple genes (as in Williams-Beuren syndrome) contribute to manifestations of the disorder.
  • Genetic causes: 80% or more of rare diseases are genetic in origin.
  • The Institute of Medicine’s 2010 report on rare diseases and orphan products outlines four potential causes for rare diseases: Even if the cause of a rare disease is identified, researchers may still not understand how the disease functions or how to properly treat it. While most rare diseases are genetic in origin, many causes are not well understood.
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    Orphan definition