| H00663 | |
| H番号 | H00663 |
| 名称 | 拘束性皮膚障害 |
| 概要 | Restrictive dermopathy (RD) is a rare, lethal autosomal recessive genodermatosis caused by mutations in either LMNA or ZMPSTE24. Manifestations include a tight, thin, translucent skin, typical face, multiple joint contractures, enlarged fontanelles, and dysplasia of clavicles. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (RSDM1) ZMPSTE24 [HSA:10269] [KO:K06013] (RSDM2) LMNA [HSA:4000] [KO:K12641] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: EE6Y ICD-10: Q82.8 MeSH: C536920 OMIM: 275210 619793 |
| 文献 | PMID:19020898 著者 Morais P, Magina S, Ribeiro Mdo C, Rodrigues M, Lopes JM, Thanh Hle T, Wehnert M, Guimaraes H タイトル Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature. 雑誌 Eur J Pediatr 168:1007-12 (2009) DOI:10.1007/s00431-008-0868-x PMID:9217218 著者 Mau U, Kendziorra H, Kaiser P, Enders H タイトル Restrictive dermopathy: report and review. 雑誌 Am J Med Genet 71:179-85 (1997) DOI:10.1002/(SICI)1096-8628(19970808)71:2<179::AID-AJMG11>3.0.CO;2-B PMID:20635340 (ZMPSTE24) 著者 Miner JH タイトル Restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity. 雑誌 Am J Med Genet A 152A:2140-1; author reply 2142 (2010) DOI:10.1002/ajmg.a.33503 PMID:15317753 (LMNA, ZMPSTE24) 著者 Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Genevieve D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Levy N タイトル Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. 雑誌 Hum Mol Genet 13:2493-503 (2004) DOI:10.1093/hmg/ddh265 |