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Condition

Albinism

Genetic disorder

Albinism is a congenital condition marked by the absence or near-absence of melanin pigment, producing pale or white hair and skin and eyes that often appear pink, red or violet because underlying blood vessels show through the iris. It arises from mutations affecting melanin synthesis, most commonly involving the TYR gene that codes for the enzyme tyrosinase, though many other genes can contribute to the trait across species. In humans and most mammals it follows a recessive inheritance pattern, occurring in roughly one of every 10,000 births, while related pigment loss appears far more often in birds. Beyond appearance, people with albinism frequently experience vision problems, including poor visual acuity and light sensitivity, caused by abnormal development of the eye during infancy.

Facts
Classification
Body System
Integumentary System 1
Body System
Eye 1
ICD-10 Chapter
IV: Endocrine, Nutritional and Metabolic Diseases 2
Communicable or Non-communicable
Non-Communicable 3
Causative Agent
Causative Agent (category)
Genetic / Hereditary 3
Sources
1. National Library of Medicine: MeSH Descriptor Data: Albinism
National Library of Medicine
  • MeSH tree number C17.800.827.080
    General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
  • MeSH tree number C11.270.040
    General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
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2. Wikidata: Albinism
Wikidata P494 (E70.3)View the Source
3. Albinism (Wikipedia)
  • Lead: disease category
    Albinism is the congenital absence of pigmentation (in mammals, melanin) in an animal or plant resulting in "hair being white, red, or yellow", "feathers, scales, and skin being yellow", "eyes being red, pink, purple, violet, or blue", and "leaves or stems being white or yellow", if applicable.
  • Article text
    By definition albinism is a genetic condition, however a similar coloration could be caused by diet, living conditions, age, disease, or injury.
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