Decreased or absent pigmentation of the hair, skin, and eyes.
Usual onset
Is inherited and phenotypically present beginning at birth
Types
OCA 1-7
Causes
Mutation in the TYR gene on chromosome 11
Treatment
No currently known treatment
Frequency
Autosomal Recessive Pattern, 1/20,000 people in world
Oculocutaneous albinism type I or type 1A[1] 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.
The location of OCA1 may be written as "11q1.4–q2.1", meaning it is on chromosome 11, long arm, somewhere in the range of band 1, sub-band 4, and band 2, sub-band 1. Since the disorder is autosomal recessive, genetic counseling can be used to determine if both parents are heterozygous for the condition when considering having children. If both parents are heterozygous, their child has a 25% chance of inheriting both recessive copies of OCA1 and having the skin disease.[2]
This symptoms in this disease include absence of pigmentation, due to a mutation that affects melanin levels in the eyes, hair, and skin. This rare disease is found in 1 out of 20,000 people around the world, being much more prevalent in Caucasians.[3] There is no known cure for this disease as of present, but there are various ways to manage this disease, including safety around the sun and regular checks for other skin diseases such as skin cancer.
^Online Mendelian Inheritance in Man (OMIM): 203100
^Cite error: The named reference Lewis_1993 was invoked but never defined (see the help page).
^Cite error: The named reference Hutton was invoked but never defined (see the help page).
and 26 Related for: Oculocutaneous albinism type I information
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in all types of pigment. This is in contrast to albinism, for which leucism is often mistaken. Albinism results in the reduction of melanin production...
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associated with brown pelage and in the human TYRP1 gene with oculocutaneousalbinismtype 3 (OCA3). An allele of TYRP1 common in Solomon Islanders results...
cells (also known as iPS cells or iPSCs) are a type of pluripotent stem cell that can be generated directly from a somatic cell. The iPSC technology was...
tyrosinase gene resulting in impaired tyrosinase production leads to typeIoculocutaneousalbinism, a hereditary disorder that affects one in every 20,000 people...
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patients with amelanotic melanomas are white, and those with oculocutaneousalbinism or typeI skin and red hair are more likely to have them. According...
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