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MIRAGE
Leber congenital amaurosis 1

Summary
Synonym
  • LCA1
  • amaurosis congenita of Leber I
Definition
A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13.
Super Class
Leber congenital amaurosis autosomal recessive disease
Disease Ontology
DOID:0110078
Mondo Disease Ontology
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3000 GUCY2D guanylate cyclase 2D, retinal
Displaying 1 entry
Gene ID Gene Symbol Description Source
14919 Gucy2e guanylate cyclase 2e
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q02846 Retinal guanylyl cyclase 1
Displaying 1 entry
UniProt ID Protein Name Source
P52785 Retinal guanylyl cyclase 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 16 in total
HPO ID HPO Term
HP:0001250 Seizure
HP:0012795 Abnormal optic disc morphology
HP:0000563 Keratoconus
HP:0002269 Abnormality of neuronal migration
HP:0000512 Abnormal electroretinogram
HP:0001263 Global developmental delay
HP:0006817 Aplasia/Hypoplasia of the cerebellar vermis
HP:0001141 Severely reduced visual acuity
HP:0000365 Hearing impairment
HP:0001252 Hypotonia
Displaying 1 entry
Gene ID Gene Symbol Description
5130 PCYT1A phosphate cytidylyltransferase 1A, choline
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 7, 2025