Night Blindness, Congenital Stationary, Autosomal Dominant 2 (CSNBAD2)

Alias:
Congenital Stationary Night Blindness Autosomal Dominant 2
Hemeralopia
Csnbad2
Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 2
Night Blindness, Congenital Stationary, Rambusch Type
Rambusch Type Congenital Stationary Night Blindness
Congenital Stationary Night Blindness Rambusch Type
Hemeralopia Congenital Essential
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Night Blindness, Congenital Stationary, Autosomal Dominant 2, also known as congenital stationary night blindness autosomal dominant 2, is related to night blindness, congenital stationary, type 1a and congenital stationary night blindness, and has symptoms including photophobia, amaurosis fugax and micropsia. An important gene associated with Night Blindness, Congenital Stationary, Autosomal Dominant 2 is PDE6B (Phosphodiesterase 6B), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Signaling by WNT. Affiliated tissues include retina and eye, and related phenotypes are congenital stationary night blindness and abnormal fundus morphology
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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8
41
5

Medical Symptom

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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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