Leber congenital amaurosis

Summary
Synonym
  • LCA
  • Leber's amaurosis
  • Leber's congenital amaurosis
  • Leber's disease
Definition
A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
Super Class
physical disorder retinal disease
External Links
Disease Ontology
DOID:14791
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 7 entries
Gene ID Gene Symbol Description Source
131 ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide
2026 ENO2 enolase 2
5130 PCYT1A phosphate cytidylyltransferase 1A, choline
6785 ELOVL4 ELOVL fatty acid elongase 4
8630 HSD17B6 hydroxysteroid 17-beta dehydrogenase 6
10908 PNPLA6 patatin like phospholipase domain containing 6
79888 LPCAT1 lysophosphatidylcholine acyltransferase 1

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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