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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 3000 | GUCY2D | guanylate cyclase 2D, retinal | |
| 4647 | MYO7A | myosin VIIA | |
| 5961 | PRPH2 | peripherin 2 | |
| 10576 | CCT2 | chaperonin containing TCP1 subunit 2 | |
| 23418 | CRB1 | crumbs cell polarity complex component 1 | |
| 51109 | RDH11 | retinol dehydrogenase 11 | |
| 57665 | RDH14 | retinol dehydrogenase 14 | |
| 64398 | PALS1 | protein associated with LIN7 1, MAGUK p55 family member |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 19133 | Prph2 | peripherin 2 | |
| 56217 | Pals1 | protein associated with LIN7 1, MAGUK family member | |
| 170788 | Crb1 | crumbs family member 1, photoreceptor morphogenesis associated | |
| 216274 | Cep290 | centrosomal protein 290 | |
| 241324 | Crb2 | crumbs family member 2 |
