| H00914 | |
| H number | H00914 |
| Name | Warsaw breakage syndrome |
| Description | 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. |
| Category | Congenital malformation |
| Network | nt06512(H00914) Chromosome cohesion and segregation |
| Gene | DDX11 [HSA:1663] [KO:K11273] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Fanconi anemia and Roberts syndrome are described in H00238 and H00572, respectively. |
| Other DBs | ICD-11: LD2F.1Y OMIM: 613398 |
| Reference | PMID:20137776 AUTHORS van der Lelij P, Chrzanowska KH, Godthelp BC, Rooimans MA, Oostra AB, Stumm M, Zdzienicka MZ, Joenje H, de Winter JP TITLE Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1. JOURNAL Am J Hum Genet 86:262-6 (2010) DOI:10.1016/j.ajhg.2010.01.008 PMID:22102414 AUTHORS Wu Y, Sommers JA, Khan I, de Winter JP, Brosh RM Jr TITLE Biochemical characterization of warsaw breakage syndrome helicase. JOURNAL J Biol Chem 287:1007-21 (2012) DOI:10.1074/jbc.M111.276022 |