Log In|Sign Up
ENBietti Crystalline Corneoretinal Dystrophy (BCD)
Alias:
Bietti Crystalline Dystrophy
Bcd
Bietti Crystalline Retinopathy
Bietti Tapetoretinal Degeneration with Marginal Corneal Dystrophy
Bietti's Crystalline Dystrophy
Dystrophy, Corneoretinal, Crystalline, Bietti
Crystalline Retinopathy
加入收藏
Bietti Crystalline Corneoretinal Dystrophy, also known as bietti crystalline dystrophy, is related to macular holes and peripheral retinal degeneration. An important gene associated with Bietti Crystalline Corneoretinal Dystrophy is CYP4V2 (Cytochrome P450 Family 4 Subfamily V Member 2), and among its related pathways/superpathways are Fatty acid metabolism and Metapathway biotransformation Phase I and II. Affiliated tissues include retina and eye, and related phenotypes are visual impairment and nyctalopia
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
