Retinitis Pigmentosa 40 (RP40)

Alias:
Rp40
Retinitis Pigmentosa, Type 40
Retinitis Pigmentosa-40
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Retinitis Pigmentosa 40, also known as rp40, is related to night blindness, congenital stationary, autosomal dominant 2 and macular dystrophy, dominant cystoid. An important gene associated with Retinitis Pigmentosa 40 is PDE6B (Phosphodiesterase 6B), and among its related pathways/superpathways is Digestion and absorption. Affiliated tissues include retina and eye, and related phenotypes are cataract and nyctalopia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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10
106
21

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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