Night blindness, congenital stationary, type 2A ; CSNB2A
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: | 693 | |
| Name: | Night blindness, congenital stationary, type 2A ; CSNB2A | |
| Associated with: | 1 target | |
| Synonyms |
| Congenital stationary night blindness |
| Database Links |
|
Disease Ontology:
DOID:0050534 OMIM: 300071 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.
✖| Cav1.4 | |
| Role: | Decreased signaling from photoreceptors to secondary neurons |
| Drugs: | Not established |
| References: | 2,8,18 |
| Mutations: | Cav1.4 is associated with 106 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 2A ; CSNB2A
References
1. Audo I, Bujakowska KM, Léveillard T, Mohand-Saïd S, Lancelot ME, Germain A, Antonio A, Michiels C, Saraiva JP, Letexier M et al.. (2012) Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases. Orphanet J Rare Dis, 7: 8. [PMID:22277662]
2. Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM. (1998) Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Nat Genet, 19 (3): 264-7. [PMID:9662400]
3. Bech-Hansen T, Naylor MJ. (1999) Retinal calcium channel (alpha)1f-subunit gene. Patent number: CA2299611 A1. Priority date: 02/06/1998. Publication date: 09/12/1999.
4. Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM. (2013) Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. Ophthalmology, 120 (10): 2072-81. [PMID:23714322]
5. Boycott KM, Maybaum TA, Naylor MJ, Weleber RG, Robitaille J, Miyake Y, Bergen AA, Pierpont ME, Pearce WG, Bech-Hansen NT. (2001) A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants. Hum Genet, 108 (2): 91-7. [PMID:11281458]
6. Boycott KM, Pearce WG, Bech-Hansen NT. (2000) Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F. Can J Ophthalmol, 35 (4): 204-13. [PMID:10900517]
7. Burtscher V, Schicker K, Novikova E, Pöhn B, Stockner T, Kugler C, Singh A, Zeitz C, Lancelot ME, Audo I et al.. (2014) Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2. Biochim Biophys Acta, 1838 (8): 2053-65. [PMID:24796500]
8. Chang B, Heckenlively JR, Bayley PR, Brecha NC, Davisson MT, Hawes NL, Hirano AA, Hurd RE, Ikeda A, Johnson BA et al.. (2006) The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses. Vis Neurosci, 23 (1): 11-24. [PMID:16597347]
9. Hauke J, Schild A, Neugebauer A, Lappa A, Fricke J, Fauser S, Rösler S, Pannes A, Zarrinnam D, Altmüller J et al.. (2013) A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype. PLoS ONE, 8 (10): e76414. [PMID:24124559]
10. Hemara-Wahanui A, Berjukow S, Hope CI, Dearden PK, Wu SB, Wilson-Wheeler J, Sharp DM, Lundon-Treweek P, Clover GM, Hoda JC et al.. (2005) A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. Proc Natl Acad Sci USA, 102 (21): 7553-8. [PMID:15897456]
11. Hoda JC, Zaghetto F, Koschak A, Striessnig J. (2005) Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels. J Neurosci, 25 (1): 252-9. [PMID:15634789]
12. Hoda JC, Zaghetto F, Singh A, Koschak A, Striessnig J. (2006) Effects of congenital stationary night blindness type 2 mutations R508Q and L1364H on Cav1.4 L-type Ca2+ channel function and expression. J Neurochem, 96 (6): 1648-58. [PMID:16476079]
13. McRory JE, Hamid J, Doering CJ, Garcia E, Parker R, Hamming K, Chen L, Hildebrand M, Beedle AM, Feldcamp L et al.. (2004) The CACNA1F gene encodes an L-type calcium channel with unique biophysical properties and tissue distribution. J Neurosci, 24 (7): 1707-18. [PMID:14973233]
14. Nakamura M, Ito S, Piao CH, Terasaki H, Miyake Y. (2003) Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family. Arch Ophthalmol, 121 (7): 1028-33. [PMID:12860808]
15. Nakamura M, Ito S, Terasaki H, Miyake Y. (2001) Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness. Invest Ophthalmol Vis Sci, 42 (7): 1610-6. [PMID:11381068]
16. Singh A, Hamedinger D, Hoda JC, Gebhart M, Koschak A, Romanin C, Striessnig J. (2006) C-terminal modulator controls Ca2+-dependent gating of Ca(v)1.4 L-type Ca2+ channels. Nat Neurosci, 9 (9): 1108-16. [PMID:16921373]
17. Stockner T, Koschak A. (2013) What can naturally occurring mutations tell us about Ca(v)1.x channel function?. Biochim Biophys Acta, 1828 (7): 1598-607. [PMID:23219801]
18. Strom TM, Nyakatura G, Apfelstedt-Sylla E, Hellebrand H, Lorenz B, Weber BH, Wutz K, Gutwillinger N, Rüther K, Drescher B et al.. (1998) An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat Genet, 19 (3): 260-3. [PMID:9662399]
19. Wang Q, Gao Y, Li S, Guo X, Zhang Q. (2012) Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness. Int J Mol Med, 30 (3): 521-6. [PMID:22735794]
20. Weleber RG. (2002) Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture). Ophthalmic Genet, 23 (2): 71-97. [PMID:12187427]
21. Wutz K, Sauer C, Zrenner E, Lorenz B, Alitalo T, Broghammer M, Hergersberg M, de la Chapelle A, Weber BH, Wissinger B et al.. (2002) Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. Eur J Hum Genet, 10 (8): 449-56. [PMID:12111638]
22. Zeitz C, Labs S, Lorenz B, Forster U, Uksti J, Kroes HY, De Baere E, Leroy BP, Cremers FP, Wittmer M et al.. (2009) Genotyping microarray for CSNB-associated genes. Invest Ophthalmol Vis Sci, 50 (12): 5919-26. [PMID:19578023]
23. Zeitz C, Minotti R, Feil S, Mátyás G, Cremers FP, Hoyng CB, Berger W. (2005) Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness. Mol Vis, 11: 179-83. [PMID:15761389]
24. Zito I, Allen LE, Patel RJ, Meindl A, Bradshaw K, Yates JR, Bird AC, Erskine L, Cheetham ME, Webster AR et al.. (2003) Mutations in the CACNA1F and NYX genes in British CSNBX families. Hum Mutat, 21 (2): 169. [PMID:12552565]
