| H00805 | |
| H番号 | H00805 |
| 名称 | 硝子体網膜変性 |
| 概要 | The inherited vitreoretinal degenerations are disorders of the eye characterized by early onset cataract, anomalies of the vitreous manifesting as optically empty vitreous, course fibrils, and membranes, and retinal detachment. These diseases include Stickler syndrome types I (STL1) and II (STL2), caused by mutations in COL2A1 and COL11A1 respectively. Snowflake vitreoretinal degeneration (SVD) is associated with a mutation in a KCNJ13, and Wagner syndrome (WGVRP) with mutations in CSPG2. Knobloch syndrome (KNO) may also be caused by mutations in a collagen gene, COL18A1. In addition to Stickler syndrome and other chondrodysplasias, enhanced S-cone syndrome (ESCS) and autosomal dominant vitreoretinochoroidopathy (VRCP) are associated with vitreoretinal degeneration. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (STL1) COL2A1 [HSA:1280] [KO:K19719] (STL2) COL11A1 [HSA:1301] [KO:K19721] (SVD) KCNJ13 [HSA:3769] [KO:K05006] (WGVRP) VCAN [HSA:1462] [KO:K06793] (KNO1) COL18A1 [HSA:80781] [KO:K06823] (ESCS) NR2E3 [HSA:10002] [KO:K08546] (VRCP) BEST1 [HSA:7439] [KO:K13878] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | STL1 and STL2 are also included in Type II and XI collagenopathies, respectively. [DS:H00520] [DS:H00519] |
| リンク | ICD-11: 9B80 ICD-10: H35.5 OMIM: 108300 604841 193230 143200 267750 268100 193220 |
| 文献 | PMID:18309337 著者 Edwards AO タイトル Clinical features of the congenital vitreoretinopathies. 雑誌 Eye (Lond) 22:1233-42 (2008) DOI:10.1038/eye.2008.38 PMID:1677770 (COL2A1) 著者 Ahmad NN, Ala-Kokko L, Knowlton RG, Jimenez SA, Weaver EJ, Maguire JI, Tasman W, Prockop DJ タイトル Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). 雑誌 Proc Natl Acad Sci U S A 88:6624-7 (1991) DOI:10.1073/pnas.88.15.6624 PMID:8872475 (COL11A1) 著者 Richards AJ, Yates JR, Williams R, Payne SJ, Pope FM, Scott JD, Snead MP タイトル A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. 雑誌 Hum Mol Genet 5:1339-43 (1996) DOI:10.1093/hmg/5.9.1339 PMID:18179896 (KCNJ13) 著者 Hejtmancik JF, Jiao X, Li A, Sergeev YV, Ding X, Sharma AK, Chan CC, Medina I, Edwards AO タイトル Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. 雑誌 Am J Hum Genet 82:174-80 (2008) DOI:10.1016/j.ajhg.2007.08.002 PMID:16043844 (VCAN) 著者 Miyamoto T, Inoue H, Sakamoto Y, Kudo E, Naito T, Mikawa T, Mikawa Y, Isashiki Y, Osabe D, Shinohara S, Shiota H, Itakura M タイトル Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome. 雑誌 Invest Ophthalmol Vis Sci 46:2726-35 (2005) DOI:10.1167/iovs.05-0057 PMID:10942434 (COL18A1) 著者 Sertie AL, Sossi V, Camargo AA, Zatz M, Brahe C, Passos-Bueno MR タイトル Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome). 雑誌 Hum Mol Genet 9:2051-8 (2000) DOI:10.1093/hmg/9.13.2051 PMID:10655056 (NR2E3) 著者 Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC タイトル Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 雑誌 Nat Genet 24:127-31 (2000) DOI:10.1038/72777 PMID:15452077 (BEST1) 著者 Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, Perveen R, Reddy MA, Bhattacharya SS, Traboulsi E, Baralle D, De Laey JJ, Puech B, Kestelyn P, Moore AT, Manson FD, Black GC タイトル Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). 雑誌 Invest Ophthalmol Vis Sci 45:3683-9 (2004) DOI:10.1167/iovs.04-0550 |