Retinitis Pigmentosa 50 (RP50)

Alias:
Retinitis Pigmentosa, Concentric
Rp50
Retinitis Pigmentosa, Type 50, Concentric
Retinitis Pigmentosa Concentric
Retinitis Pigmentosa-50
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Retinitis Pigmentosa 50, also known as retinitis pigmentosa, concentric, is related to macular dystrophy, vitelliform, 2 and acute closed-angle glaucoma. An important gene associated with Retinitis Pigmentosa 50 is BEST1 (Bestrophin 1), and among its related pathways/superpathways is Vitamin A and carotenoid metabolism. Affiliated tissues include retina and eye, and related phenotypes are abnormal electroretinogram and retinal detachment
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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15
120
2

Medical Symptom

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

Gene & Mutation

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Gene
Function
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
Year
IF
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