Leber Congenital Amaurosis 14 (LCA14)

Alias:
Lca14
Retinitis Pigmentosa, Juvenile, Lrat-Related
Retinal Dystrophy, Early-Onset Severe, Lrat-Related
Severe Early-Onset Retinal Dystrophy Lrat-Related
Retinitis Pigmentosa Juvenile Lrat-Related
Retinal Dystrophy, Early-Onset Severe
Leber Congenital Amaurosis, Type 14
Retinitis Pigmentosa, Juvenile
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Leber Congenital Amaurosis 14, also known as lca14, is related to severe early-childhood-onset retinal dystrophy and leber congenital amaurosis 4, and has symptoms including photophobia An important gene associated with Leber Congenital Amaurosis 14 is LRAT (Lecithin Retinol Acyltransferase), and among its related pathways/superpathways are Visual phototransduction and Visual Cycle in Retinal Rods. Affiliated tissues include retina and eye, and related phenotypes are nystagmus and photophobia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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8
71
6

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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References Literature

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