Night blindness, congenital stationary, type 1C; CSNB1C
GtoPdb Disease Summaries
This section gives an overview of the disease, and where available shows the following:
- Synonyms: Shows known synonyms for the disease.
- Description: Gives a basic description/definition of the disease.
- Database Link: External links to the same disease at the Disease Ontology, OMIM or Orphanet sites.
- Immunopharmacology comments: General comments about the target's role in immunopharmacology, provided by GtoImmuPdb curators.
- Associated with: Counts are displayed for the total targets the disease is associated with in GtoPdb. The counts of targets and ligands of immunological relevance associated to the disease are also shown.
More information can be found in the help pages.
✖| Disease ID: | 692 | |
| Name: | Night blindness, congenital stationary, type 1C; CSNB1C | |
| Associated with: | 1 target | |
| Synonyms |
| Congenital stationary night blindness |
| Database Links |
|
Disease Ontology:
DOID:0050534 OMIM: 613216 Orphanet: ORPHA215 |
Targets
GtoPdb Disease Summaries - Targets
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖| TRPM1 | |
| References: | 1-4 |
| Mutations: | TRPM1 is associated with 19 mutation. Click here for details  |
Ligands
GtoPdb Disease Summaries - Ligands
Click ligand name to view ligand summary page
- Approved: If the ligand is an approved drug this is indicated, along with approval bodies.
- Immuno: Immuno icon indicates the ligand is immuno-relevant
Click the arrow in the final column to expand comments
- Immuno Disease Comments: Curatorial comments specifically added as part of GtoImmuPdb. They give more information on the association between the ligand and disease in the context of immunopharmacology.
- Clinical Use: General clinical comments relating to the ligand and may not necessarily be specific to the disease in question. With hyperlink to more details on the ligand summary pages.
- Bioactivty Comments: Curatorial comments specifically about the compounds biological activity - with hyperlink to more details on the ligand summary pages.
More information can be found in the help pages.
✖No ligand related data available for Night blindness, congenital stationary, type 1C; CSNB1C
References
1. Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M et al.. (2009) TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet, 85 (5): 720-9. [PMID:19896113]
2. Li Z, Sergouniotis PI, Michaelides M, Mackay DS, Wright GA, Devery S, Moore AT, Holder GE, Robson AG, Webster AR. (2009) Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans. Am J Hum Genet, 85 (5): 711-9. [PMID:19878917]
3. Nakamura M, Sanuki R, Yasuma TR, Onishi A, Nishiguchi KM, Koike C, Kadowaki M, Kondo M, Miyake Y, Furukawa T. (2010) TRPM1 mutations are associated with the complete form of congenital stationary night blindness. Mol Vis, 16: 425-37. [PMID:20300565]
4. van Genderen MM, Bijveld MM, Claassen YB, Florijn RJ, Pearring JN, Meire FM, McCall MA, Riemslag FC, Gregg RG, Bergen AA et al.. (2009) Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. Am J Hum Genet, 85 (5): 730-6. [PMID:19896109]
