KEGG   DISEASE: H00481Help
H00481                      Disease                                

Cone-rod dystrophy and cone dystrophy, including:
Cone-rod dystrophy (CORD);
Cone dystrophy (COD);
Retinal cone dystrophy (RCD)
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.
Inherited metabolic disease; Nervous system disease; Eye disease
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H00481  Cone-rod dystrophy (CORD) and cone dystrophy (COD)
Human diseases in ICD-10 classification [BR:br08403]
 7. Diseases of the eye and adnexa (H00-H59)
  H30-H36  Disorders of choroid and retina
   H35  Other retinal disorders
    H00481  Cone-rod dystrophy (CORD) and cone dystrophy (COD)
BRITE hierarchy
Purine metabolism
(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]
(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]
Other mapped loci for autosomal CORD include CORD1 on chromosome 18q21.1-q21.3 and CORD8 on chromosome 1q12-q24.
Other DBs
Hamel CP
Cone rod dystrophies.
Orphanet J Rare Dis 2:7 (2007)
Adams NA, Awadein A, Toma HS
The retinal ciliopathies.
Ophthalmic Genet 28:113-25 (2007)
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
Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.
Mol Vis 17:1103-9 (2011)
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
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
Hum Mutat 32:1398-406 (2011)

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