| H01095 | |
| H番号 | H01095 |
| 名称 | 合指症 |
| 概要 | Syndactyly (SDTY) is the common hereditary limb malformations depicting the fusion of certain fingers and/or toes. At least nine non-syndromic syndactylies with additional sub-types have been characterized. Most of the syndactyly types are inherited as autosomal dominant but two autosomal recessive and an X-linked recessive entity have also been described. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (SDTY2/5) HOXD13 [HSA:3239] [KO:K09298] (SDTY3) GJA1 [HSA:2697] [KO:K07372] (SDTY4) LMBR1 [HSA:64327] [KO:K25217] (SDTY9) BHLHA9 [HSA:727857] [KO:K24145] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | SDTY2 is also known as Synpolydactyly. |
| リンク | ICD-11: LB79 ICD-10: Q70 MeSH: D013576 OMIM: 185900 186000 186100 186200 186300 609432 |
| 文献 | PMID:22333904 著者 Malik S タイトル Syndactyly: phenotypes, genetics and current classification. 雑誌 Eur J Hum Genet 20:817-24 (2012) DOI:10.1038/ejhg.2012.14 PMID:15039974 著者 Malik S, Arshad M, Amin-Ud-Din M, Oeffner F, Dempfle A, Haque S, Koch MC, Ahmad W, Grzeschik KH タイトル A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin. 雑誌 Am J Med Genet A 126A:61-7 (2004) DOI:10.1002/ajmg.a.20555 PMID:8817328 (HOXD13, SDTY2) 著者 Akarsu AN, Stoilov I, Yilmaz E, Sayli BS, Sarfarazi M タイトル Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. 雑誌 Hum Mol Genet 5:945-52 (1996) DOI:10.1093/hmg/5.7.945 PMID:16222680 (HOXD13, SDTY5) 著者 Kjaer KW, Hansen L, Eiberg H, Utkus A, Skovgaard LT, Leicht P, Opitz JM, Tommerup N タイトル A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions. 雑誌 Am J Med Genet A 138:328-39 (2005) DOI:10.1002/ajmg.a.30971 PMID:14729836 (GJA1) 著者 Richardson R, Donnai D, Meire F, Dixon MJ タイトル Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly. 雑誌 J Med Genet 41:60-7 (2004) DOI:10.1136/jmg.2003.012005 PMID:18417549 (LMBR1) 著者 Sun M, Ma F, Zeng X, Liu Q, Zhao XL, Wu FX, Wu GP, Zhang ZF, Gu B, Zhao YF, Tian SH, Lin B, Kong XY, Zhang XL, Yang W, Lo WH, Zhang X タイトル Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer. 雑誌 J Med Genet 45:589-95 (2008) DOI:10.1136/jmg.2008.057646 PMID:25466284 (BHLHA9) 著者 Malik S, Percin FE, Bornholdt D, Albrecht B, Percesepe A, Koch MC, Landi A, Fritz B, Khan R, Mumtaz S, Akarsu NA, Grzeschik KH タイトル Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type. 雑誌 Am J Hum Genet 95:649-59 (2014) DOI:10.1016/j.ajhg.2014.10.012 |