| H01902 | |
| H番号 | H01902 |
| 名称 | 脆弱角膜症候群 |
| 概要 | Brittle cornea syndrome (BCS) is a rare autosomal recessive generalized connective tissue disorder. It is characterized by extreme thinning and fragility of the cornea that may rupture in the absence of significant trauma leading to blindness. Keratoconus or keratoglobus, high myopia, blue sclerae, hyperelasticity of the skin, and hypermobility of the small joints are additional features of BCS. Mutations in transcription factors ZNF469 and PRDM5 cause BCS. Both transcription factors are suggested to act on a common pathway regulating extracellular matrix genes, particularly fibrillar collagens. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (BCS1) ZNF469 [HSA:84627] (BCS2) PRDM5 [HSA:11107] [KO:K22534] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Formerly, BCS1 was called Ehlers-Danlos syndrome type VIB. See also H00802 Ehlers-Danlos syndrome (EDS). |
| リンク | ICD-11: LD28.1Y ICD-10: Q79.6 MeSH: C536192 OMIM: 229200 614170 |
| 文献 | PMID:23680354 著者 Rohrbach M, Spencer HL, Porter LF, Burkitt-Wright EM, Burer C, Janecke A, Bakshi M, Sillence D, Al-Hussain H, Baumgartner M, Steinmann B, Black GC, Manson FD, Giunta C タイトル ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. 雑誌 Mol Genet Metab 109:289-95 (2013) DOI:10.1016/j.ymgme.2013.04.014 PMID:26560304 著者 Porter LF, Gallego-Pinazo R, Keeling CL, Kamieniorz M, Zoppi N, Colombi M, Giunta C, Bonshek R, Manson FD, Black GC タイトル Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome. 雑誌 Orphanet J Rare Dis 10:145 (2015) DOI:10.1186/s13023-015-0360-4 PMID:18452888 (ZNF469) 著者 Abu A, Frydman M, Marek D, Pras E, Nir U, Reznik-Wolf H, Pras E タイトル Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. 雑誌 Am J Hum Genet 82:1217-22 (2008) DOI:10.1016/j.ajhg.2008.04.001 PMID:21664999 (PRDM5) 著者 Burkitt Wright EMM, Spencer HL, Daly SB, Manson FDC, Zeef LAH, Urquhart J, Zoppi N, Bonshek R, Tosounidis I, Mohan M, Madden C, Dodds A, Chandler KE, Banka S, Au L, Clayton-Smith J, Khan N, Biesecker LG, Wilson M, Rohrbach M, Colombi M, Giunta C, Black GCM タイトル Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. 雑誌 Am J Hum Genet 88:767-777 (2011) DOI:10.1016/j.ajhg.2011.05.007 |