| H00511 | |
| H番号 | H00511 |
| 名称 | 短肋骨多指症候群 |
| 概要 | Short-rib polydactyly syndromes (SRPS) are most frequent autosomal recessive osteochondrodysplasias ascribed to mutations in DYNC2H1, a cytoplasmic dynein. The fetus with SRP develops polydactyly, shortened tubular bones, and other malformations such as cleft lip/palate. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (SRPS1/2B/3) DYNC2H1 [HSA:79659] [KO:K10414] (SRPS2A) NEK1 [HSA:4750] [KO:K08857] (SRPS5) WDR35 [HSA:57539] [KO:K19674] (SRPS6) DYNC2I1 [HSA:55112] [KO:K22869] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD24.B0 ICD-10: Q77.2 MeSH: D012779 OMIM: 613091 263520 614091 615503 |
| 文献 | PMID:19361615 (DYNC2H1) 著者 Merrill AE, Merriman B, Farrington-Rock C, Camacho N, Sebald ET, Funari VA, Schibler MJ, Firestein MH, Cohn ZA, Priore MA, Thompson AK, Rimoin DL, Nelson SF, Cohn DH, Krakow D タイトル Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. 雑誌 Am J Hum Genet 84:542-9 (2009) DOI:10.1016/j.ajhg.2009.03.015 PMID:19442771 (DYNC2H1) 著者 Dagoneau N, Goulet M, Genevieve D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V タイトル DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. 雑誌 Am J Hum Genet 84:706-11 (2009) DOI:10.1016/j.ajhg.2009.04.016 PMID:21211617 (NEK1) 著者 Thiel C, Kessler K, Giessl A, Dimmler A, Shalev SA, von der Haar S, Zenker M, Zahnleiter D, Stoss H, Beinder E, Abou Jamra R, Ekici AB, Schroder-Kress N, Aigner T, Kirchner T, Reis A, Brandstatter JH, Rauch A タイトル NEK1 mutations cause short-rib polydactyly syndrome type majewski. 雑誌 Am J Hum Genet 88:106-14 (2011) DOI:10.1016/j.ajhg.2010.12.004 PMID:28400947 (WDR35) 著者 Duran I, Taylor SP, Zhang W, Martin J, Qureshi F, Jacques SM, Wallerstein R, Lachman RS, Nickerson DA, Bamshad M, Cohn DH, Krakow D タイトル Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. 雑誌 Cilia 6:7 (2017) DOI:10.1186/s13630-017-0051-y PMID:23910462 (DYNC2I1) 著者 McInerney-Leo AM, Schmidts M, Cortes CR, Leo PJ, Gener B, Courtney AD, Gardiner B, Harris JA, Lu Y, Marshall M, Scambler PJ, Beales PL, Brown MA, Zankl A, Mitchison HM, Duncan EL, Wicking C タイトル Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. 雑誌 Am J Hum Genet 93:515-23 (2013) DOI:10.1016/j.ajhg.2013.06.022 |