KEGG   DISEASE: Cone-rod dystrophy and cone dystrophyHelp
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]
(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
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)
PMID:22177090 (gene)
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
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
Am J Hum Genet 90:102-9 (2012)
PMID:23746546 (gene)
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
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.
Am J Hum Genet 93:110-7 (2013)
PMID:24791901 (gene)
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
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.
Am J Hum Genet 94:760-9 (2014)
PMID:24945461 (gene)
Durlu YK, Koroglu C, Tolun A
Novel recessive cone-rod dystrophy caused by POC1B mutation.
JAMA Ophthalmol 132:1185-91 (2014)
PMID:25983245 (gene)
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
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.
Am J Hum Genet 96:948-54 (2015)

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