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Standards Ontologies Notations
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
External Links
Disease Ontology
DOID:0110078
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
1576 CYP3A4 cytochrome P450 family 3 subfamily A member 4
2526 FUT4 fucosyltransferase 4
6120 RPE ribulose-5-phosphate-3-epimerase
6652 SORD sorbitol dehydrogenase
9468 PCYT1B phosphate cytidylyltransferase 1B, choline
60506 NYX nyctalopin
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 16 in total
HPO ID HPO Term
HP:0000639 Nystagmus
HP:0002269 Abnormality of neuronal migration
HP:0000512 Abnormal electroretinogram
HP:0001250 Seizure
HP:0000365 Hearing impairment
HP:0001263 Global developmental delay
HP:0004374 Hemiplegia/hemiparesis
HP:0001249 Intellectual disability
HP:0007703 Abnormality of retinal pigmentation
HP:0001252 Hypotonia
Displaying 1 entry
Gene ID Gene Symbol Description
5130 PCYT1A phosphate cytidylyltransferase 1A, choline
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: August 19, 2024