| H00485 | |
| H番号 | H00485 |
| 名称 | ロビノウ症候群 |
| 概要 | Robinow syndrome (RS) is a rare genetically heterogeneous condition characterized by hypertelorism, nasal features (large nasal bridge, short upturned nose, and anteverted nares), midface hypoplasia, mesomelic limb shortening, brachydactyly, clinodactyly, micropenis, and short stature. Both autosomal recessive and autosomal dominant inheritance have been described. The phenotypic presentation in both types of RS overlaps; however, subtle variances in the severity of craniofacial, musculoskeletal, cardiovascular, and urogenital characteristics may be present. In general, autosomal recessive RS (RRS) patients have more severe dysmorphology than autosomal dominant RS (DRS), especially in the musculoskeletal system. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06505 WNT signaling |
| 病因遺伝子 | (RRS1) ROR2 [HSA:4920] [KO:K05123] (RRS2) NXN [HSA:64359] [KO:K17609] (DRS1) WNT5A [HSA:7474] [KO:K00444] (DRS2) DVL1 [HSA:1855] [KO:K02353] (DRS3) DVL3 [HSA:1857] [KO:K02353] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD24.A ICD-10: Q87.1 MeSH: C562492 C535863 OMIM: 268310 180700 616331 616894 618529 |
| 文献 | PMID:19790289 著者 Mundlos S タイトル The brachydactylies: a molecular disease family. 雑誌 Clin Genet 76:123-36 (2009) DOI:10.1111/j.1399-0004.2009.01238.x PMID:12011143 (RRS1) 著者 Patton MA, Afzal AR タイトル Robinow syndrome. 雑誌 J Med Genet 39:305-10 (2002) DOI:10.1136/jmg.39.5.305 PMID:20301418 (RRS1) 著者 Bacino C タイトル ROR2-Related Robinow Syndrome 雑誌 GeneReviews (1993) PMID:21496006 著者 Beiraghi S, Leon-Salazar V, Larson BE, John MT, Cunningham ML, Petryk A, Lohr JL タイトル Craniofacial and intraoral phenotype of Robinow syndrome forms. 雑誌 Clin Genet 80:15-24 (2011) DOI:10.1111/j.1399-0004.2011.01683.x PMID:17256787 著者 Mazzeu JF, Pardono E, Vianna-Morgante AM, Richieri-Costa A, Ae Kim C, Brunoni D, Martelli L, de Andrade CE, Colin G, Otto PA タイトル Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. 雑誌 Am J Med Genet A 143:320-5 (2007) DOI:10.1002/ajmg.a.31592 PMID:19918918 (DRS1) 著者 Person AD, Beiraghi S, Sieben CM, Hermanson S, Neumann AN, Robu ME, Schleiffarth JR, Billington CJ Jr, van Bokhoven H, Hoogeboom JM, Mazzeu JF, Petryk A, Schimmenti LA, Brunner HG, Ekker SC, Lohr JL タイトル WNT5A mutations in patients with autosomal dominant Robinow syndrome. 雑誌 Dev Dyn 239:327-37 (2010) DOI:10.1002/dvdy.22156 PMID:25817016 (DRS2) 著者 White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MC, Penney S, Saraiva JM, Hove H, Skovby F, Kayserili H, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, Sutton VR, Gibbs RA, Lupski JR, Brunner HG, van Bon BW, Carvalho CM タイトル DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. 雑誌 Am J Hum Genet 96:612-22 (2015) DOI:10.1016/j.ajhg.2015.02.015 PMID:26924530 (DRS3) 著者 White JJ, Mazzeu JF, Hoischen A, Bayram Y, Withers M, Gezdirici A, Kimonis V, Steehouwer M, Jhangiani SN, Muzny DM, Gibbs RA, van Bon BW, Sutton VR, Lupski JR, Brunner HG, Carvalho CM タイトル DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. 雑誌 Am J Hum Genet 98:553-61 (2016) DOI:10.1016/j.ajhg.2016.01.005 PMID:29276006 (RRS1/2, DRS1/2/3) 著者 White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HG, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BM, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA, Brunner HG, Sutton VR, Lupski JR, Carvalho CMB タイトル WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. 雑誌 Am J Hum Genet 102:27-43 (2018) DOI:10.1016/j.ajhg.2017.10.002 |