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Qué (quién) es tyrosinase-positive oculocutaneous albinism - definición
AUTOSOMAL RECESSIVE DISEASE CHARACTERIZED BY ABNORMAL PIGMENTATION OF THE SKIN, HAIR AND EYES
Oculocutaneous Albinism; Albinism, oculocutaneous; Oculocutaneous albinism - Hermansky-Pudlak; Oculocutaneous albinism - Chediak-Higashi; Oculocutaneous albinism - tyrosinase-negative (type 1); Oculocutaneous albinism type 4; Oculocutaneous albinism type 1a; Oculocutaneous albinism type 1b
Oculocutaneous albinism type I
MEDICAL CONDITION
Oculocutaneous albinism type 1; OCA1
Oculocutaneous albinism type I or type 1A is an autosomal recessive skin disease. This subtype of oculocutaneous albinism is caused when the gene for tyrosinase (symbol TYR or OCA1) does not function properly.
Albino
![OCA1a]]) with her offspring](https://commons.wikimedia.org/wiki/Special:FilePath/Albino Bennett's wallaby with joey in pouch.jpg?width=200 "OCA1a]]) with her offspring")
![A leucistic alligator at the [[Audubon Aquarium of the Americas]], New Orleans, Louisiana](https://commons.wikimedia.org/wiki/Special:FilePath/Albino Gator.jpg?width=200 "A leucistic alligator at the [[Audubon Aquarium of the Americas]], New Orleans, Louisiana")
![giant gourami]]](https://commons.wikimedia.org/wiki/Special:FilePath/Osphronemus goramy albino 2015 G1.jpg?width=200 "giant gourami]]")
![An albino [[Rebutia]] seedling. The two seedlings are of the same age, but the albino stopped developing once the seed's reserve was exhausted.](https://commons.wikimedia.org/wiki/Special:FilePath/Rebutia albino seedling.jpg?width=200 "An albino [[Rebutia]] seedling. The two seedlings are of the same age, but the albino stopped developing once the seed's reserve was exhausted.")
!["Snowflake"]], a blue-eyed western lowland gorilla caught in the wild with Type IV [[oculocutaneous albinism]]](https://commons.wikimedia.org/wiki/Special:FilePath/Snowflake - Barcelona Zoo White Gorilla3.jpg?width=200 "\"Snowflake\"]], a blue-eyed western lowland gorilla caught in the wild with Type IV [[oculocutaneous albinism]]")
![An albino [[killer whale]]](https://commons.wikimedia.org/wiki/Special:FilePath/White Killer Whale 2008-02-23 001.jpg?width=200 "An albino [[killer whale]]")
![An exhibit showing albino and normal specimens of nine local species of marine molluscs, both gastropods and bivalves (The [[Bailey-Matthews National Shell Museum]] in [[Sanibel, Florida]]).](https://commons.wikimedia.org/wiki/Special:FilePath/BMNSM.JPG?width=200 "An exhibit showing albino and normal specimens of nine local species of marine molluscs, both gastropods and bivalves (The [[Bailey-Matthews National Shell Museum]] in [[Sanibel, Florida]]).")
![Normal (left) and albinistic (right) forms of the [[land snail]] ''[[Pseudofusulus varians]]'', note that in the albino both the body and the shell are lacking the normal pigmentation.](https://commons.wikimedia.org/wiki/Special:FilePath/Pseudofusulus varians.png?width=200 "Normal (left) and albinistic (right) forms of the [[land snail]] ''[[Pseudofusulus varians]]'', note that in the albino both the body and the shell are lacking the normal pigmentation.")
![Albino freshwater snail ''[[Biomphalaria glabrata]]'' showing the red oxygen-transport pigment [[haemoglobin]]. Without its normal pigment, the shell of this species is translucent.](https://commons.wikimedia.org/wiki/Special:FilePath/Biomphalaria glabrata.jpg?width=200 "Albino freshwater snail ''[[Biomphalaria glabrata]]'' showing the red oxygen-transport pigment [[haemoglobin]]. Without its normal pigment, the shell of this species is translucent.")
CONGENITAL DISORDER CAUSING SKIN TO LACK PIGMENTATION
Albino; Albinos; Oculocutaneous albinism, tyrosinase positive; The Albino; Ocular Albinism; Oculocutaneous albinism type 2; Oculocutaneous albinism type 3; Albinism, ocular; Albinic; Albinoid; Albinoidism; Forsius-Eriksson ocular albinism; Hypomelanism; Hypomelanosis; Albinoids; Albinistic; Albinistics; Person with albinism; Albino person; Albino humans; Albino animal; Albino animals; Human albinism; Human with albinism; Humans with albinism; Animal with albinism; Animals with albinism; Albinistic people; Albinistic person; Albinistic persons; Albinistic human; Albinistic humans; Albinistic animal; Albinistic animals; Human albino; Albinoes; Human albinos; Human hypomelanism; Human hypomelanosis; Hypomelanics; Hypomelanoid; Hypomelanoids; Hypomelanistic; Hypomelanic; Albinoism; Achromasia; Achromatosis; Albino (color); Hypomelanotic disorder; Achromasias; Hypomelanist; Hypomelanoses; Amelanist; Amelanists; Amelanotic; Amelanoid; Achromia; Albanism; Partial albinism; Albino lion; Albino lions; Albinism on white animals; Albinism in animals; Albinism in plants; Plant albinism; Animal albinism; Albino plant; Albino plants; Zoological albinism; Botanical albinism; White alligator; User:Ashleybrian001/sandbox; Draft:White Alligators; White Alligators; Albinism in biology; Albinism (biology); Albinism in nature; Albinism (genetics)
·noun A person, whether negro, Indian, or white, in whom by some defect of organization the substance which gives color to the skin, hair, and eyes is deficient or in a morbid state. An albino has a skin of a milky hue, with hair of the same color, and eyes with deep red pupil and pink or blue iris. The term is also used of the lower animals, as white mice, elephants, ·etc.; and of plants in a whitish condition from the absence of chlorophyll.
Albinoism
CONGENITAL DISORDER CAUSING SKIN TO LACK PIGMENTATION
Albino; Albinos; Oculocutaneous albinism, tyrosinase positive; The Albino; Ocular Albinism; Oculocutaneous albinism type 2; Oculocutaneous albinism type 3; Albinism, ocular; Albinic; Albinoid; Albinoidism; Forsius-Eriksson ocular albinism; Hypomelanism; Hypomelanosis; Albinoids; Albinistic; Albinistics; Person with albinism; Albino person; Albino humans; Albino animal; Albino animals; Human albinism; Human with albinism; Humans with albinism; Animal with albinism; Animals with albinism; Albinistic people; Albinistic person; Albinistic persons; Albinistic human; Albinistic humans; Albinistic animal; Albinistic animals; Human albino; Albinoes; Human albinos; Human hypomelanism; Human hypomelanosis; Hypomelanics; Hypomelanoid; Hypomelanoids; Hypomelanistic; Hypomelanic; Albinoism; Achromasia; Achromatosis; Albino (color); Hypomelanotic disorder; Achromasias; Hypomelanist; Hypomelanoses; Amelanist; Amelanists; Amelanotic; Amelanoid; Achromia; Albanism; Partial albinism; Albino lion; Albino lions; Albinism on white animals; Albinism in animals; Albinism in plants; Plant albinism; Animal albinism; Albino plant; Albino plants; Zoological albinism; Botanical albinism; White alligator; User:Ashleybrian001/sandbox; Draft:White Alligators; White Alligators; Albinism in biology; Albinism (biology); Albinism in nature; Albinism (genetics)
·noun The state or condition of being an albino; albinism.
Wikipedia
Oculocutaneous albinism
Oculocutaneous albinism is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and the hair. Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes. Seven types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders.: 864 Oculocutaneous albinism is also found in non-human animals.
