KEGG DISEASE: 錐体杆体ジストロフィおよび錐体ジストロフィー

DISEASE: 錐体杆体ジストロフィおよび錐体ジストロフィー

エントリ

H00481

名称

錐体杆体ジストロフィおよび錐体ジストロフィー

下位グループ

錐体杆体ジストロフィー
錐体ジストロフィー
網膜錐体ジストロフィー

上位グループ

黄斑ジストロフィー [DS:H01770]

概要

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.

カテゴリ

神経系疾患

階層分類

ICD-11 による疾患分類 [BR:jp08403]
09 視覚系の疾患
  眼球後極部の疾患
   網膜の疾患
    9B70  遺伝性網膜ジストロフィ
     H00481  錐体杆体ジストロフィおよび錐体ジストロフィー
パスウェイに基づく疾患分類 [BR:jp08402]
シグナル伝達
  nt06528  カルシウムシグナリング
   H00481  錐体杆体ジストロフィおよび錐体ジストロフィー

パスウェイ

hsa04020

Calcium signaling pathway

ネットワーク

nt06528 Calcium signaling

病因遺伝子

(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]
(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]

リンク

ICD-11:

9B70

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

文献

PMID:17270046 (CRX, ABCA4, RIMS1, ADAM9, RPGRIP1, GUCY2D, GUCA1A, RPGR, CACNA1F)

著者

Hamel CP

タイトル

Cone rod dystrophies.

雑誌

Orphanet J Rare Dis 2:7 (2007)
DOI:10.1186/1750-1172-2-7

文献

PMID:17896309 (RPGRIP1, RPGR)

著者

Adams NA, Awadein A, Toma HS

タイトル

The retinal ciliopathies.

雑誌

Ophthalmic Genet 28:113-25 (2007)
DOI:10.1080/13816810701537424

文献

PMID:17377520 (PITPNM3)

著者

Kohn L, Kadzhaev K, Burstedt MS, Haraldsson S, Hallberg B, Sandgren O, Golovleva I

タイトル

Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.

雑誌

Eur J Hum Genet 15:664-71 (2007)
DOI:10.1038/sj.ejhg.5201817

文献

PMID:21552474 (GUCY2D)

著者

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

タイトル

Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.

雑誌

Mol Vis 17:1103-9 (2011)

文献

PMID:16199541 (SEMA4A)

著者

Abid A, Ismail M, Mehdi SQ, Khaliq S

タイトル

Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases.

雑誌

J Med Genet 43:378-81 (2006)
DOI:10.1136/jmg.2005.035055

文献

PMID:20087419 (CDHR1)

著者

Henderson RH, Li Z, Abd El Aziz MM, Mackay DS, Eljinini MA, Zeidan M, Moore AT, Bhattacharya SS, Webster AR

タイトル

Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans.

雑誌

Mol Vis 16:46-52 (2010)

文献

PMID:22177090 (CFAP418)

著者

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

タイトル

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.

雑誌

Am J Hum Genet 90:102-9 (2012)
DOI:10.1016/j.ajhg.2011.11.015

文献

PMID:23746546 (RAB28)

著者

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

タイトル

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.

雑誌

Am J Hum Genet 93:110-7 (2013)
DOI:10.1016/j.ajhg.2013.05.005

文献

PMID:24791901 (TTLL5)

著者

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

タイトル

Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.

雑誌

Am J Hum Genet 94:760-9 (2014)
DOI:10.1016/j.ajhg.2014.04.003

文献

PMID:24945461 (POC1B)

著者

Durlu YK, Koroglu C, Tolun A

タイトル

Novel recessive cone-rod dystrophy caused by POC1B mutation.

雑誌

JAMA Ophthalmol 132:1185-91 (2014)
DOI:10.1001/jamaophthalmol.2014.1658

文献

PMID:25983245 (DRAM2)

著者

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

タイトル

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.

雑誌

Am J Hum Genet 96:948-54 (2015)
DOI:10.1016/j.ajhg.2015.04.006

文献

PMID:33077892 (TLCD3B)

著者

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

タイトル

Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.

雑誌

Genet Med 23:488-497 (2021)
DOI:10.1038/s41436-020-01003-x

文献

PMID:11006213 (UNC119)

著者

Kobayashi A, Higashide T, Hamasaki D, Kubota S, Sakuma H, An W, Fujimaki T, McLaren MJ, Weleber RG, Inana G

タイトル

HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model.

雑誌

Invest Ophthalmol Vis Sci 41:3268-77 (2000)

文献

PMID:33001157 (PDE6C, PDE6H)

著者

Daich Varela M, Ullah E, Yousaf S, Brooks BP, Hufnagel RB, Huryn LA

タイトル

PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.

雑誌

Invest Ophthalmol Vis Sci 61:1 (2020)
DOI:10.1167/iovs.61.12.1

文献

PMID:21882291 (KCNV2)

著者

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

タイトル

Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.

雑誌

Hum Mutat 32:1398-406 (2011)
DOI:10.1002/humu.21580

文献

PMID:17033974 (CACNA2D4)

著者

Wycisk KA, Zeitz C, Feil S, Wittmer M, Forster U, Neidhardt J, Wissinger B, Zrenner E, Wilke R, Kohl S, Berger W

タイトル

Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.

雑誌

Am J Hum Genet 79:973-7 (2006)
DOI:10.1086/508944

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