Log In|Sign Up
ENLeber Plus Disease (CRB)
Alias:
Leber Congenital Amaurosis
Amaurosis Congenita of Leber
Lhon Plus Disease
Leber's Disease
Congenital Amaurosis of Retinal Origin
Leber's Amaurosis
Lca
Leber's Congenital Tapetoretinal Degeneration
Leber Congenital Tapetoretinal Degeneration
Hereditary Epithelial Dysplasia of Retina
Dysgenesis Neuroepithelialis Retinae
Amaurosis Congenita of Leber, Type 1
Optic Atrophy, Hereditary, Leber
Heredoretinopathia Congenitalis
Leber's Congenital Amaurosis
Congenital Retinal Blindness
Amaurosis, Leber Congenital
Lebers Congenital Amaurosis
Hereditary Retinal Aplasia
Leber Abiotrophy
Crb
Favorite
Leber Plus Disease, also known as leber congenital amaurosis, is related to leber congenital amaurosis 16 and leber congenital amaurosis 12, and has symptoms including ataxia, static tremor and photophobia. An important gene associated with Leber Plus Disease is GUCY2D (Guanylate Cyclase 2D, Retinal), and among its related pathways/superpathways are Visual phototransduction and Ciliary landscape. The drugs Idebenone and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include Eye and retina, and related phenotypes are abnormality of retinal pigmentation and severely reduced visual acuity
Related ID：
MESH：D057130
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
