KEGG DISEASE: Warsaw breakage syndrome

KEGG

DISEASE: Warsaw breakage syndrome

Entry

H00914                      Disease

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00914  Warsaw breakage syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06512  Chromosome cohesion and segregation
   H00914  Warsaw breakage syndrome

Pathway

hsa04110 Cell cycle

Network

nt06512 Chromosome cohesion and segregation

Gene

DDX11 [HSA:1663] [KO:K11273]

Comment

Fanconi anemia and Roberts syndrome are described in H00238 and H00572, respectively.

Other DBs

ICD-11:

OMIM:

Reference

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

Reference

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

LinkDB

» Japanese version

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