| H00481 | |
| H number | H00481 |
| Name | Cone-rod dystrophy and cone dystrophy |
| 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 |
| Network | - |
| Gene | (CORD2) CRX [HSA:1406] [KO:K09337] (CORD3) ABCA4 [HSA:24] [KO:K05644] (CORD5) PITPNM3 [HSA:83394] [KO:K24069] (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] [KO:K25226] (CORD18) RAB28 [HSA:9364] [KO:K07915] (CORD19) TTLL5 [HSA:23093] [KO:K16602] (CORD20) POC1B [HSA:282809] [KO:K16482] (CORD21) DRAM2 [HSA:128338] [KO:K21956] (CORD22) TLCD3B [HSA:83723] [KO:K26600] (CORD24) UNC119 [HSA:9094] [KO:K23539] (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| 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 619531 620342 304020 300476 613093 610024 610356 610478 |
| Reference | PMID:17270046 (CRX, ABCA4, RIMS1, ADAM9, RPGRIP1, GUCY2D, GUCA1A, RPGR, CACNA1F) AUTHORS Hamel CP TITLE Cone rod dystrophies. JOURNAL Orphanet J Rare Dis 2:7 (2007) DOI:10.1186/1750-1172-2-7 PMID:17896309 (RPGRIP1, RPGR) AUTHORS Adams NA, Awadein A, Toma HS TITLE The retinal ciliopathies. JOURNAL Ophthalmic Genet 28:113-25 (2007) DOI:10.1080/13816810701537424 PMID:17377520 (PITPNM3) AUTHORS Kohn L, Kadzhaev K, Burstedt MS, Haraldsson S, Hallberg B, Sandgren O, Golovleva I TITLE Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families. JOURNAL Eur J Hum Genet 15:664-71 (2007) DOI:10.1038/sj.ejhg.5201817 PMID:21552474 (GUCY2D) 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) PMID:16199541 (SEMA4A) AUTHORS Abid A, Ismail M, Mehdi SQ, Khaliq S TITLE Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases. JOURNAL J Med Genet 43:378-81 (2006) DOI:10.1136/jmg.2005.035055 PMID:20087419 (CDHR1) AUTHORS Henderson RH, Li Z, Abd El Aziz MM, Mackay DS, Eljinini MA, Zeidan M, Moore AT, Bhattacharya SS, Webster AR TITLE Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans. JOURNAL Mol Vis 16:46-52 (2010) PMID:22177090 (CFAP418) 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 PMID:23746546 (RAB28) 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 PMID:24791901 (TTLL5) 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 PMID:24945461 (POC1B) 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 PMID:25983245 (DRAM2) 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 PMID:33077892 (TLCD3B) AUTHORS Bertrand RE, Wang J, Xiong KH, Thangavel C, Qian X, Ba-Abbad R, Liang Q, Simoes RT, Sampaio SAM, Carss KJ, Lucy Raymond F, Robson AG, Webster AR, Arno G, Porto FBO, Chen R TITLE Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy. JOURNAL Genet Med 23:488-497 (2021) DOI:10.1038/s41436-020-01003-x PMID:11006213 (UNC119) AUTHORS Kobayashi A, Higashide T, Hamasaki D, Kubota S, Sakuma H, An W, Fujimaki T, McLaren MJ, Weleber RG, Inana G TITLE HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. JOURNAL Invest Ophthalmol Vis Sci 41:3268-77 (2000) PMID:33001157 (PDE6C, PDE6H) AUTHORS Daich Varela M, Ullah E, Yousaf S, Brooks BP, Hufnagel RB, Huryn LA TITLE PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults. JOURNAL Invest Ophthalmol Vis Sci 61:1 (2020) DOI:10.1167/iovs.61.12.1 PMID:21882291 (KCNV2) 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 PMID:17033974 (CACNA2D4) AUTHORS Wycisk KA, Zeitz C, Feil S, Wittmer M, Forster U, Neidhardt J, Wissinger B, Zrenner E, Wilke R, Kohl S, Berger W TITLE Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. JOURNAL Am J Hum Genet 79:973-7 (2006) DOI:10.1086/508944 |