エントリ 名称 McKusick-Kaufman 症候群
概要 McKusick-Kaufman syndrome (MKKS) is a rare, autosomal recessive syndrome reported mainly in infants and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital heart defect. It is caused by mutations in the MKKS gene, that encodes centrosome-shuttling protein.
カテゴリ 先天奇形
階層分類 ICD-11 による疾患分類 [BR:jp08403 ] BRITE hierarchy 病因遺伝子 リンク 文献 著者 David A, Bitoun P, Lacombe D, Lambert JC, Nivelon A, Vigneron J, Verloes A
タイトル Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.
雑誌 文献 著者 Slavotinek AM, Searby C, Al-Gazali L, Hennekam RC, Schrander-Stumpel C, Orcana-Losa M, Pardo-Reoyo S, Cantani A, Kumar D, Capellini Q, Neri G, Zackai E, Biesecker LG
タイトル Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.
雑誌 文献 著者 Hirayama S, Yamazaki Y, Kitamura A, Oda Y, Morito D, Okawa K, Kimura H, Cyr DM, Kubota H, Nagata K
タイトル MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.
雑誌 LinkDB All DBs
