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Achromatopsia 2; ACHM2

Disease ID:22
Name:Achromatopsia 2; ACHM2
Associated with:1 target
Database Links
Disease Ontology: DOID:13911
OMIM: 216900
Orphanet: ORPHA49382


Mutations:  CNGA3 is associated with 67 mutation. Click here for details


No ligand related data available for Achromatopsia 2; ACHM2


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1. Ahuja Y, Kohl S, Traboulsi EI. (2008) CNGA3 mutations in two United Arab Emirates families with achromatopsia. Mol Vis, 14: 1293-7. [PMID:18636117]

2. Azam M, Collin RW, Shah ST, Shah AA, Khan MI, Hussain A, Sadeque A, Strom TM, Thiadens AA, Roosing S et al.. (2010) Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. Mol Vis, 16: 774-81. [PMID:20454696]

3. Goto-Omoto S, Hayashi T, Gekka T, Kubo A, Takeuchi T, Kitahara K. (2006) Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia. Vis Neurosci, 23 (3-4): 395-402. [PMID:16961972]

4. Johnson S, Michaelides M, Aligianis IA, Ainsworth JR, Mollon JD, Maher ER, Moore AT, Hunt DM. (2004) Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. J Med Genet, 41 (2): e20. [PMID:14757870]

5. Koeppen K, Reuter P, Kohl S, Baumann B, Ladewig T, Wissinger B. (2008) Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C). Eur J Neurosci, 27 (9): 2391-401. [PMID:18445228]

6. Kohl S, Marx T, Giddings I, Jägle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B. (1998) Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat Genet, 19 (3): 257-9. [PMID:9662398]

7. Nishiguchi KM, Sandberg MA, Gorji N, Berson EL, Dryja TP. (2005) Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. Hum Mutat, 25 (3): 248-58. [PMID:15712225]

8. Reuter P, Koeppen K, Ladewig T, Kohl S, Baumann B, Wissinger B, Achromatopsia Clinical Study Group. (2008) Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia. Hum Mutat, 29 (10): 1228-36. [PMID:18521937]

9. Wissinger B, Gamer D, Jägle H, Giorda R, Marx T, Mayer S, Tippmann S, Broghammer M, Jurklies B, Rosenberg T, Jacobson SG, Sener EC, Tatlipinar S, Hoyng CB, Castellan C, Bitoun P, Andreasson S, Rudolph G, Kellner U, Lorenz B, Wolff G, Verellen-Dumoulin C, Schwartz M, Cremers FP, Apfelstedt-Sylla E, Zrenner E, Salati R, Sharpe LT, Kohl S. (2001) CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet, 69 (4): 722-37. [PMID:11536077]

10. Wiszniewski W, Lewis RA, Lupski JR. (2007) Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. Hum Genet, 121 (3-4): 433-9. [PMID:17265047]