Retinitis Pigmentosa 3 (RP3)

Alias:
Rp3
Choroidoretinal Degeneration with Retinal Reflex in Heterozygous Women
Retinitis Pigmentosa 15
Rp15
Cone-Rod Degeneration, X-Linked
X-Linked Retinitis Pigmentosa 3
X-Linked Cone-Rod Degeneration
Retinitis Pigmentosa Type 15
Retinitis Pigmentosa, Type 3
Retinitis Pigmentosa-3
Xlrp-3
Xlrp3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Retinitis Pigmentosa 3, also known as rp3, is related to peripheral retinal degeneration and night blindness. An important gene associated with Retinitis Pigmentosa 3 is RPGR (Retinitis Pigmentosa GTPase Regulator), and among its related pathways/superpathways are Ciliopathies and Joubert syndrome. Affiliated tissues include retina and eye, and related phenotypes are photophobia and reduced visual acuity
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
XL
XLR
Unknown
--
15
79
49

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

Name
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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