Leber Congenital Amaurosis 2 (LCA2)
Alias:
Lca2
Amaurosis Congenita of Leber Ii
Amaurosis Congenita of Leber, Type 2
Leber Congenital Amaurosis, Type Ii
Leber Congenital Amaurosis Type Ii
Leber Congenital Amaurosis, Type 2
Basic Information
Medical Symptom
Gene & Mutation
Drugs
Disease Model
References
Leber Congenital Amaurosis 2, also known as lca2, is related to pathologic nystagmus and retinal disease. An important gene associated with Leber Congenital Amaurosis 2 is RPE65 (Retinoid Isomerohydrolase RPE65), and among its related pathways/superpathways are Visual phototransduction and Ciliary landscape. Affiliated tissues include retina and eye, and related phenotypes are nystagmus and reduced visual acuity
Basic Information
Inheritance
Age Of Onset
Prevalence
Related Gene
Related Models
Reference
MALACARDS
AR
Unknown
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1
16
131
Medical Symptom
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Categorization
Description
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Gene & Mutation
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MGI
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Comparison
Al agent
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