Condition characterized by partial or complete absence of pigment in the skin, hair and eyes
Medical condition
Albinism
Other names
Achromia, achromasia, achromatosis
Young African boy with albinism
Pronunciation
albino (UK: /ælˈbiːnoʊ/,[1] or US: /ælˈbaɪnoʊ/)[2]
Specialty
Dermatology
Albinism is a congenital condition characterized in humans by the partial or complete absence of pigment in the skin, hair and eyes. 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.[3]
Albinism results from inheritance of recessive gene alleles and is known to affect all vertebrates, including humans. It is due to absence or defect of tyrosinase, a copper-containing enzyme involved in the production of melanin. 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.[4] While an organism with complete absence of melanin is called an albino, an organism with only a diminished amount of melanin is described as leucistic or albinoid.[5] The term is from the Latin albus, "white".
^"albino". Random House Dictionary. 2017. Retrieved 10 November 2017 – via Dictionary.Reference.com.
^"American Pronunciation of albino". Macmillan Dictionary. 2017. Retrieved 10 November 2017.
^Kaplan, J.; De Domenico, I.; Ward, D. M. (2008). "Chediak-Higashi syndrome". Current Opinion in Hematology. 15 (1): 22–29. doi:10.1097/MOH.0b013e3282f2bcce. PMID 18043242. S2CID 43243529.
^"Albinism". Encyclopædia Britannica. Retrieved 27 January 2015.
^Tietz, W. (1963). "A Syndrome of Deaf-Mutism Associated with Albinism Showing Dominant Autosomal Inheritance". American Journal of Human Genetics. 15 (3): 259–264. PMC 1932384. PMID 13985019.
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Albinism is a congenital condition characterized inhumans by the partial or complete absence of pigment in the skin, hair and eyes. Albinism is associated...
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...
determined failure of tyrosine synthesis. "What is Albinism?". The National Organization for Albinism and Hypopigmentation. Archived from the original on...
cause the reduction in all types of pigment. This is in contrast to albinism, for which leucism is often mistaken. Albinism results in the reduction of melanin...
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that inhumans is encoded by the oculocutaneous albinism II (OCA2) gene. The P protein is believed to be an integral membrane protein involved in small...
Albinism organisations and others have expressed criticism over the portrayal of individuals with albinismin popular culture, specifically in movies and...
with albinism have been persecuted, killed and dismembered, and graves of albinos dug up and desecrated. At the same time, people with albinism have also...
true albinism. The vision problems associated with albinism are not usually present as eye pigmentation is normal. Piebaldism differs from albinismin that...
violet-colored eyes occur only due to albinism. Eyes that appear red or violet under certain conditions due to albinism are less than 1 percent of the world's...
He was rebuked for his albinism and derogatory comments made about his appearance. Many ignorantly attributed his albinism as having caused by severe...
albinism. Later on, in its resolution 26/10 of June 26, 2014, the Human Rights Council recommended June 13 to be proclaimed as International Albinism...
than others, due to differences in their genotype: a striking example is people with the inherited trait of albinism, who do not tan at all and are very...
type of albinism is oculocutaneous albinism or OCA, which has many subtypes caused by different genetic mutations. Albinism is a serious problem in areas...
Murray H.; King, Richard A. (August 1996). "The clinical spectrum of albinisminhumans". Molecular Medicine Today. 2 (8): 330–335. doi:10.1016/1357-4310(96)81798-9...
Humans (Homo sapiens) or modern humans are the most common and widespread species of primate, and the last surviving species of the genus Homo. They are...
human type IV oculocutaneous albinism (OCA4). Type IV oculocutaneous albinism, like other types of humanalbinism, results in hypopigmentation of the skin...
is even higher, ranging from 1 in 2,000 to 1 in 5,000. Another form of Albinism, the "yellow oculocutaneous albinism", appears to be more prevalent among...
desirable or indicative of higher class, especially among women. Albinisminhumans Black people Brown (racial classification) Olive skin Light skin skinned...
wrinkling. Dark skin Olive skin High yellow Skin whitening Blond Red hair Albinisminhumans light-skinned Princeton University "Light-skinned". thefreedictionary...
Mendelian traits inhumans are human traits that are substantially influenced by Mendelian inheritance. Most – if not all – Mendelian traits are also...
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the Color locus, cause oculocutaneous albinism type 1 inhumans and the familiar red-eyed albino conditions in mice and other mammals. Other vertebrates...
a subtype of Ocular Albinism (OA) that is linked to Ocular albinism type I (OA1). OA1 is the most common form of ocular albinism, affecting at least 1/60...
stems not from an absence of melanocytes "What is Albinism?". The National Organization for Albinism and Hypopigmentation. Archived from the original on...
Tietz syndrome, also called Tietz albinism-deafness syndrome or albinism and deafness of Tietz, is an autosomal dominant congenital disorder characterized...