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This section gives an overview of the disease, and where available shows the following:
More information can be found in the help pages.
✖Disease ID: | 691 | |
Name: | Night blindness, congenital stationary, type 1B; CSNB1B | |
Associated with: | 1 target |
Synonyms |
Congenital stationary night blindness |
Database Links |
Disease Ontology:
DOID:0050534 OMIM: 257270 Orphanet: ORPHA215 |
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.
✖mGlu6 receptor | |
Comments: | Single nucleotide polymorphisms. Loss of function mutations in the human mGlu6 gene are associated with night blindness and abnormal cone electroretinogram ON responses. |
References: | 1-2 |
Click ligand name to view ligand summary page
Click the arrow in the final column to expand comments
More information can be found in the help pages.
✖No ligand related data available for Night blindness, congenital stationary, type 1B; CSNB1B
1. Dryja TP, McGee TL, Berson EL, Fishman GA, Sandberg MA, Alexander KR, Derlacki DJ, Rajagopalan AS. (2005) Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. Proc Natl Acad Sci USA, 102 (13): 4884-9. [PMID:15781871]
2. Zeitz C, van Genderen M, Neidhardt J, Luhmann UF, Hoeben F, Forster U, Wycisk K, Mátyás G, Hoyng CB, Riemslag F et al.. (2005) Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. Invest Ophthalmol Vis Sci, 46 (11): 4328-35. [PMID:16249515]