Retinal Cone Dystrophy 4 (RCD4)

Alias:
Rcd4
Dystrophy, Retinal Cone, Type 4
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Retinal Cone Dystrophy 4, also known as rcd4, is related to cone-rod dystrophy 2 and night blindness, congenital stationary, type 1c, and has symptoms including photophobia An important gene associated with Retinal Cone Dystrophy 4 is CACNA2D4 (Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 4), and among its related pathways/superpathways are G-Beta Gamma Signaling and Development Ligand-independent activation of ESR1 and ESR2. Affiliated tissues include t cells and monocytes, and related phenotypes are visual impairment and photophobia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
8
60
3

Medical Symptom

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

Gene & Mutation

#
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

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top