KEGG   DISEASE: H00481Help
Entry
H00481                      Disease                                

Name
Cone-rod dystrophy and cone dystrophy, including:
Cone-rod dystrophy (CORD);
Cone dystrophy (COD);
Retinal cone dystrophy (RCD)
Description
Cone-rod dystrophy (CORD) and cone dystrophy (COD) are a subgroup of inherited retinal dystrophies characterized by progressive loss of photoreceptor function. In contrast to retinitis pigmentosa (RP), deterioration of the cone cells is more severe than the rod cells. In CORD, there is a progressive loss of cone photoreceptor function followed by gradual loss of rod photoreceptor function and retinal degeneration. In COD, cone function decreases progressively from its onset, though rod function is well preserved until the late stages of the disease.
Category
Inherited metabolic disease; Nervous system disease; Eye disease
BRITE hierarchy
Pathway
Phototransduction
Purine metabolism
Gene
(CORD2) CRX [HSA:1406] [KO:K09337]
(CORD3) ABCA4 [HSA:24] [KO:K05644]
(CORD5) PITPNM3 [HSA:83394]
(CORD6/RCD2) GUCY2D [HSA:3000] [KO:K12321]
(CORD7) RIMS1 [HSA:22999] [KO:K15291]
(CORD9) ADAM9 [HSA:8754] [KO:K06834]
(CORD10) SEMA4A [HSA:64218] [KO:K06521]
(CORD11) RAX2 [HSA:84839] [KO:K09333]
(CORD12) PROM1 [HSA:8842] [KO:K06532]
(CORD13) RPGRIP1 [HSA:57096] [KO:K16512]
(CORD14/ COD3) GUCA1A [HSA:2978] [KO:K08328]
(CORD15) CDHR1 [HSA:92211] [KO:K16501]
(CORDX1/COD1) RPGR [HSA:6103]
(CORDX3) CACNA1F [HSA:778] [KO:K04853]
(COD4) PDE6C [HSA:5146] [KO:K13757]
(RCD3A) PDE6H [HSA:5149] [KO:K13760]
(RCD3B) KCNV2 [HSA:169522] [KO:K04935]
(RCD4) CACNA2D4 [HSA:93589] [KO:K04861]
Comment
Other mapped loci for autosomal CORD include CORD1 on chromosome 18q21.1-q21.3 and CORD8 on chromosome 1q12-q24.
Other DBs
Reference
  Authors
Hamel CP
  Title
Cone rod dystrophies.
  Journal
Orphanet J Rare Dis 2:7 (2007)
Reference
  Authors
Adams NA, Awadein A, Toma HS
  Title
The retinal ciliopathies.
  Journal
Ophthalmic Genet 28:113-25 (2007)
Reference
  Authors
Garcia-Hoyos M, Auz-Alexandre CL, Almoguera B, Cantalapiedra D, Riveiro-Alvarez R, Lopez-Martinez MA, Gimenez A, Blanco-Kelly F, Avila-Fernandez A, Trujillo-Tiebas MJ, Garcia-Sandoval B, Ramos C, Ayuso C
  Title
Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.
  Journal
Mol Vis 17:1103-9 (2011)
Reference
  Authors
Wissinger B, Schaich S, Baumann B, Bonin M, Jagle H, Friedburg C, Varsanyi B, Hoyng CB, Dollfus H, Heckenlively JR, Rosenberg T, Rudolph G, Kellner U, Salati R, Plomp A, De Baere E, Andrassi-Darida M, Sauer A, Wolf C, Zobor D, Bernd A, Leroy BP, Enyedi P, Cremers FP, Lorenz B, Zrenner E, Kohl S
  Title
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
  Journal
Hum Mutat 32:1398-406 (2011)

» Japanese version

DBGET integrated database retrieval system