Details of Disease | DrugMAP

General Information of Disease (ID: DIS1AE2E)

Disease Name	Warsaw breakage syndrome
Synonyms	WARSAW breakage syndrome; Warsaw breakage syndrome; WABS
Definition	A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11.
Disease Hierarchy	DISYKSRF: Genetic disease DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DIS1AE2E: Warsaw breakage syndrome
Disease Identifiers	MONDO ID MONDO_0013252 UMLS CUI C3150658 OMIM ID 613398 MedGen ID 462008 Orphanet ID 280558 SNOMED CT ID 702829000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RAD17	OT1I93DT	Limited	Biomarker	[1]
DDX11	OT1WR3MD	Definitive	Autosomal recessive	[2]
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References

1	Warsaw breakage syndrome DDX11 helicase acts jointly with RAD17 in the repair of bulky lesions and replication through abasic sites.Proc Natl Acad Sci U S A. 2018 Aug 14;115(33):8412-8417. doi: 10.1073/pnas.1803110115. Epub 2018 Jul 30.
2	Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome. Hum Mutat. 2013 Jan;34(1):103-7. doi: 10.1002/humu.22226. Epub 2012 Oct 17.