KEGG   DISEASE: Cone-rod dystrophy and cone dystrophyHelp
Entry
H00481                      Disease                                

Name
Cone-rod dystrophy and cone dystrophy
  Subgroup
Cone-rod dystrophy (CORD)
Cone dystrophy (COD)
Retinal cone dystrophy (RCD)
  Supergrp
Macular dystrophy [DS:H01770]
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
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Eye disease
   H00481  Cone-rod dystrophy and cone dystrophy
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the eyeball posterior segment
   Disorders of the retina
    9B70  Inherited retinal dystrophies
     H00481  Cone-rod dystrophy and cone dystrophy
BRITE hierarchy
Pathway
hsa04744  Phototransduction
hsa00230  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
ICD-11: 9B70
ICD-10: H35.5
MeSH: D000071700
OMIM: 120970 604116 600977 601777 603649 612775 610283 610381 612657 608194 602093 613660 614500 615374 615860 615973 616502 304020 300476 613093 610024 180020 610356 610478
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
  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
  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
  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
  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
  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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