Leber Congenital Amaurosis 11 (LCA11)

Alias:
Lca11
Leber Congenital Amaurosis, Type 11
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Leber Congenital Amaurosis 11, also known as lca11, is related to chronic interstitial cystitis and severe early-childhood-onset retinal dystrophy. An important gene associated with Leber Congenital Amaurosis 11 is IMPDH1 (Inosine Monophosphate Dehydrogenase 1), and among its related pathways/superpathways are Ciliary landscape and Ciliopathies. Affiliated tissues include retina and eye, and related phenotypes are nystagmus and visual impairment
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
--
10
66
2

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