Pigmented Paravenous Chorioretinal Atrophy (PPCRA)

Alias:
Pigmented Paravenous Retinochoroidal Atrophy
Ppcra
Pprca
Atrophy, Chorioretinal, Pigmented Paravenous
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Pigmented Paravenous Chorioretinal Atrophy, also known as pigmented paravenous retinochoroidal atrophy, is related to leber congenital amaurosis 4 and macular retinal edema. An important gene associated with Pigmented Paravenous Chorioretinal Atrophy is CRB1 (Crumbs Cell Polarity Complex Component 1). Affiliated tissues include eye and bone, and related phenotypes are esotropia and hypermetropia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
XL
All ages
<1/1000000
13
88
8

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
Year
IF
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