Leber Congenital Amaurosis 16 (LCA16)

Alias:
Lca16
Leber Congenital Amaurosis, Type 16
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Leber Congenital Amaurosis 16, also known as lca16, is related to vitreoretinal degeneration, snowflake type and leber plus disease, and has symptoms including photophobia An important gene associated with Leber Congenital Amaurosis 16 is KCNJ13 (Potassium Inwardly Rectifying Channel Subfamily J Member 13), and among its related pathways/superpathways are Ciliopathies and Visual Cycle in Retinal Rods. Affiliated tissues include retina and eye, and related phenotypes are nystagmus and cataract
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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13
94
4

Medical Symptom

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Description
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Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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