KEGG   DISEASE: Cone-rod dystrophy and cone dystrophyHelp
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
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
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]
(CORD16) C8orf37 [HSA:157657]
(CORD18) RAB28 [HSA:9364] [KO:K07915]
(CORD19) TTLL5 [HSA:23093] [KO:K16602]
(CORD20) POC1B [HSA:282809] [KO:K16482]
(CORD21) DRAM2 [HSA:128338] [KO:K21956]
(CORDX1/COD1) RPGR [HSA:6103] [KO:K19607]
(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 DBs
Reference
  Authors
Hamel CP
  Title
Cone rod dystrophies.
  Journal
Orphanet J Rare Dis 2:7 (2007)
DOI:10.1186/1750-1172-2-7
Reference
  Authors
Adams NA, Awadein A, Toma HS
  Title
The retinal ciliopathies.
  Journal
Ophthalmic Genet 28:113-25 (2007)
DOI:10.1080/13816810701537424
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)
DOI:10.1002/humu.21580
Reference
PMID:22177090 (gene)
  Authors
Estrada-Cuzcano A, Neveling K, Kohl S, Banin E, Rotenstreich Y, Sharon D, Falik-Zaccai TC, Hipp S, Roepman R, Wissinger B, Letteboer SJ, Mans DA, Blokland EA, Kwint MP, Gijsen SJ, van Huet RA, Collin RW, Scheffer H, Veltman JA, Zrenner E, den Hollander AI, Klevering BJ, Cremers FP
  Title
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
  Journal
Am J Hum Genet 90:102-9 (2012)
DOI:10.1016/j.ajhg.2011.11.015
Reference
PMID:23746546 (gene)
  Authors
Roosing S, Rohrschneider K, Beryozkin A, Sharon D, Weisschuh N, Staller J, Kohl S, Zelinger L, Peters TA, Neveling K, Strom TM, van den Born LI, Hoyng CB, Klaver CC, Roepman R, Wissinger B, Banin E, Cremers FP, den Hollander AI
  Title
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.
  Journal
Am J Hum Genet 93:110-7 (2013)
DOI:10.1016/j.ajhg.2013.05.005
Reference
PMID:24791901 (gene)
  Authors
Sergouniotis PI, Chakarova C, Murphy C, Becker M, Lenassi E, Arno G, Lek M, MacArthur DG, Bhattacharya SS, Moore AT, Holder GE, Robson AG, Wolfrum U, Webster AR, Plagnol V
  Title
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.
  Journal
Am J Hum Genet 94:760-9 (2014)
DOI:10.1016/j.ajhg.2014.04.003
Reference
PMID:24945461 (gene)
  Authors
Durlu YK, Koroglu C, Tolun A
  Title
Novel recessive cone-rod dystrophy caused by POC1B mutation.
  Journal
JAMA Ophthalmol 132:1185-91 (2014)
DOI:10.1001/jamaophthalmol.2014.1658
Reference
PMID:25983245 (gene)
  Authors
El-Asrag ME, Sergouniotis PI, McKibbin M, Plagnol V, Sheridan E, Waseem N, Abdelhamed Z, McKeefry D, Van Schil K, Poulter JA, Johnson CA, Carr IM, Leroy BP, De Baere E, Inglehearn CF, Webster AR, Toomes C, Ali M
  Title
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.
  Journal
Am J Hum Genet 96:948-54 (2015)
DOI:10.1016/j.ajhg.2015.04.006

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