| H00914 | |
| H番号 | H00914 |
| 名称 | ワルシャワ破壊症候群 |
| 概要 | Warsaw breakage syndrome is a cohesinopathy characterized by cellular defects in sister chromatid cohesion and hypersensitivity to agents that induce replication stress. It is caused by defective DDX11/ChlR1, a XPD helicase family member. In Warsaw breakage syndrome, features of Fanconi anemia (chromosomal breakage) and Roberts syndrome (sister chromatid cohesion defects) coexist, and individuals with this disorder show severe microcephaly, facial dysmorphy, pre- and post- natal growth retardation, and abnormal skin pigmentation. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06512(H00914) Chromosome cohesion and segregation |
| 病因遺伝子 | DDX11 [HSA:1663] [KO:K11273] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Fanconi anemia and Roberts syndrome are described in H00238 and H00572, respectively. |
| リンク | ICD-11: LD2F.1Y OMIM: 613398 |
| 文献 | PMID:20137776 著者 van der Lelij P, Chrzanowska KH, Godthelp BC, Rooimans MA, Oostra AB, Stumm M, Zdzienicka MZ, Joenje H, de Winter JP タイトル Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1. 雑誌 Am J Hum Genet 86:262-6 (2010) DOI:10.1016/j.ajhg.2010.01.008 PMID:22102414 著者 Wu Y, Sommers JA, Khan I, de Winter JP, Brosh RM Jr タイトル Biochemical characterization of warsaw breakage syndrome helicase. 雑誌 J Biol Chem 287:1007-21 (2012) DOI:10.1074/jbc.M111.276022 |