Albino

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Albino (Wikipedia)
"Albino" redirects here. For an overview, see Albinism in biology. For other uses, see Albino (disambiguation).
Albinism
Albinisitic man portrait.jpg
A boy of Black ethnicity with albinism
Classification and external resources
Specialty Dermatology
ICD-10 E70.3
ICD-9-CM 270.2
OMIM 203100 103470, 203200, 606952, 203290, 203300, 203310, 256710, 278400, 214450, 214500, 220900, 300500, 300600, 300650, 300700, 600501, 604228, 606574, 606952, 607624, 609227
DiseasesDB 318
MedlinePlus 001479
eMedicine derm/12
Patient UK Albinism
MeSH D000417

Albinism in humans (from the Latin albus, "white"; see extended etymology, also called achromia, achromasia, or achromatosis) is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect of tyrosinase, a copper-containing enzyme involved in the production of melanin. It is the opposite of melanism. Unlike humans, other animals have multiple pigments and for these, albinism is considered to be a hereditary condition characterised by the absence of melanin in particular, in the eyes, skin, hair, scales, feathers or cuticle.

Albinism results from inheritance of recessive gene alleles and is known to affect all vertebrates, including humans. While an organism with complete absence of melanin is called an albino (UK /ælˈbn/, or US /ælˈbn/) an organism with only a diminished amount of melanin is described as leucistic or albinoid.

Albinism is associated with a number of vision defects, such as photophobia, nystagmus and amblyopia. Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers. In rare cases such as Chédiak–Higashi syndrome, albinism may be associated with deficiencies in the transportation of melanin granules. This also affects essential granules present in immune cells leading to increased susceptibility to infection.

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