Leber Congenital Amaurosis 1 (LCA1)

Alias:
Lca1
Amaurosis Congenita of Leber, Type 1
Amaurosis Congenita of Leber I
Leber Congenital Amaurosis, Type 1
Leber Congenital Amaurosis Type I
Retinal Blindness, Congenital
Lca
Crb
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Leber Congenital Amaurosis 1, also known as lca1, is related to cone-rod dystrophy 6 and senior-loken syndrome 1, and has symptoms including photophobia An important gene associated with Leber Congenital Amaurosis 1 is GUCY2D (Guanylate Cyclase 2D, Retinal), and among its related pathways/superpathways are Visual phototransduction and Ciliopathies. The drugs Prednisolone and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include retina and eye, and related phenotypes are nystagmus and reduced visual acuity
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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32
196
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Medical Symptom

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

Gene & Mutation

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Mutations
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Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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