Albinism, Ocular, Type I (OA1)
Alias:
Ocular Albinism
Oa1
Ocular Albinism, Type I
Ocular Albinism Type 1
Albinism, Ocular
Xloa
Ocular Albinism, Type I, Nettleship-Falls Type
Ocular Albinism, Nettleship-Falls Type
Nettleship-Falls Type Ocular Albinism
X-Linked Recessive Ocular Albinism
Albinism Ocular 1
Oa
Ocular Albinism 1
Albinism Ocular
Oa-1
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Albinism, Ocular, Type I, also known as ocular albinism, is related to aland island eye disease and albinism, ocular, with late-onset sensorineural deafness. An important gene associated with Albinism, Ocular, Type I is GPR143 (G Protein-Coupled Receptor 143), and among its related pathways/superpathways are Prader-Willi and Angelman syndrome and GPR143 in melanocytes and retinal pigment epithelium cells. The drug Lutein has been mentioned in the context of this disorder. Affiliated tissues include eye and skin, and related phenotypes are nystagmus and photophobia
Related ID:
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Newborn
1-9/1000000
43
841
42
Medical Symptom
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Description
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No data available
Gene & Mutation
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No data available
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MGI
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References Literature
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Comparison
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