Bestrophinopathy, Autosomal Recessive (ARB)

Alias:
Autosomal Recessive Bestrophinopathy
Bestrophinopathy
Retinopathy, Burgess-Black Type
Arb
Retinopathy Burgess-Black Type
Bestrophinopathies
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Bestrophinopathy, Autosomal Recessive, also known as autosomal recessive bestrophinopathy, is related to macular retinal edema and macular holes. An important gene associated with Bestrophinopathy, Autosomal Recessive is BEST1 (Bestrophin 1), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Affiliated tissues include Eye and retina, and related phenotypes are reduced visual acuity and hypermetropia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
<1/1000000
21
158
71

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