MCID: WRS002
MIFTS: 32

Warsaw Breakage Syndrome malady

Categories: Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Warsaw Breakage Syndrome

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Aliases & Descriptions for Warsaw Breakage Syndrome:

Name: Warsaw Breakage Syndrome 52 11 25 54 70 27 12 13 68
Wabs 11 25 54
 
Wbrs 70

Characteristics:

Orphanet epidemiological data:

54
warsaw breakage syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
warsaw breakage syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 613398
Disease Ontology11 DOID:0060535
Orphanet54 ORPHA280558
MedGen37 C3150658
MeSH39 D000015

Summaries for Warsaw Breakage Syndrome

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Genetics Home Reference:25 Warsaw breakage syndrome is a condition that can cause multiple abnormalities. People with Warsaw breakage syndrome have intellectual disability that varies from mild to severe. They also have impaired growth from birth leading to short stature and a small head size (microcephaly). Affected individuals have distinctive facial features that may include a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks. Other common features include hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss) and heart malformations.

MalaCards based summary: Warsaw Breakage Syndrome, also known as wabs, is related to roberts syndrome and bejel, and has symptoms including tetralogy of fallot, wide mouth and high palate. An important gene associated with Warsaw Breakage Syndrome is DDX11 (DEAD/H-Box Helicase 11), and among its related pathways are Nucleotide excision repair and RNA Polymerase I Promoter Escape. Affiliated tissues include skin and heart, and related mouse phenotype Increased viability with MLN4924 (a NAE inhibitor).

Disease Ontology:11 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.

UniProtKB/Swiss-Prot:70 Warsaw breakage syndrome: A syndrome characterized by severe microcephaly, pre- and postnatal growth retardation, facial dysmorphism and abnormal skin pigmentation. Additional features include high arched palate, coloboma of the right optic disk, deafness, ventricular septal defect, toes and fingers abnormalities. At cellular level, drug-induced chromosomal breakage, a feature of Fanconi anemia, and sister chromatid cohesion defects, a feature of Roberts syndrome, coexist.

Description from OMIM:52 613398

Related Diseases for Warsaw Breakage Syndrome

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Diseases related to Warsaw Breakage Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1roberts syndrome10.0
2bejel9.8BRIP1, DDX11
33-methylglutaconic aciduria, type iii9.5BRIP1, ERCC2
4acrodermatitis enteropathica9.3BRIP1, DDX11, ERCC2
5lymphedema-distichiasis syndrome9.2BRIP1, DDX11, ERCC2
6anhidrosis, isolated, with normal sweat glands8.2BRIP1, DDX11, DGAT2L6, ERCC2, POLR1A

Graphical network of diseases related to Warsaw Breakage Syndrome:



Diseases related to warsaw breakage syndrome

Symptoms & Phenotypes for Warsaw Breakage Syndrome

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Symptoms by clinical synopsis from OMIM:

613398

Clinical features from OMIM:

613398

Human phenotypes related to Warsaw Breakage Syndrome:

 64 (show all 19)
id Description HPO Frequency HPO Source Accession
1 tetralogy of fallot64 rare (5%) HP:0001636
2 wide mouth64 HP:0000154
3 high palate64 HP:0000218
4 microcephaly64 HP:0000252
5 small face64 HP:0000274
6 epicanthus64 HP:0000286
7 sloping forehead64 HP:0000340
8 hearing impairment64 HP:0000365
9 cupped ear64 HP:0000378
10 optic nerve coloboma64 HP:0000588
11 single transverse palmar crease64 HP:0000954
12 cutis marmorata64 HP:0000965
13 intellectual disability64 HP:0001249
14 muscular hypotonia64 HP:0001252
15 global developmental delay64 HP:0001263
16 intrauterine growth retardation64 HP:0001511
17 ventricular septal defect64 HP:0001629
18 2-3 toe syndactyly64 HP:0004691
19 hypoplasia of the cochlea64 HP:0008586

GenomeRNAi Phenotypes related to Warsaw Breakage Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00250-A-38.5BRIP1, DGAT2L6, ERCC2

Drugs & Therapeutics for Warsaw Breakage Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Warsaw Breakage Syndrome

Genetic Tests for Warsaw Breakage Syndrome

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Genetic tests related to Warsaw Breakage Syndrome:

id Genetic test Affiliating Genes
1 Warsaw Breakage Syndrome27

Anatomical Context for Warsaw Breakage Syndrome

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MalaCards organs/tissues related to Warsaw Breakage Syndrome:

36
Skin, Heart

Publications for Warsaw Breakage Syndrome

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Articles related to Warsaw Breakage Syndrome:

idTitleAuthorsYear
1
The Warsaw breakage syndrome-related protein DDX11 is required for ribosomal RNA synthesis and embryonic development. (26089203)
2015
2
Warsaw Breakage Syndrome - A further report, emphasising cutaneous findings. (25701697)
2015
3
Tim/Timeless, a member of the replication fork protection complex, operates with the Warsaw breakage syndrome DNA helicase DDX11 in the same fork recovery pathway. (26503245)
2015
4
Molecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndrome. (24487782)
2014
5
Identification and biochemical characterization of a novel mutation in DDX11 causing warsaw breakage syndrome. (23033317)
2013
6
Biochemical characterization of Warsaw breakage syndrome helicase. (22102414)
2012
7
Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1. (20137776)
2010
8
Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome. (21490908)
2010

Variations for Warsaw Breakage Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Warsaw Breakage Syndrome:

70
id Symbol AA change Variation ID SNP ID
1DDX11p.Arg263GlnVAR_069099rs201968272

Clinvar genetic disease variations for Warsaw Breakage Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DDX11NM_030653.3(DDX11): c.788G> A (p.Arg263Gln)SNVPathogenicrs201968272GRCh37Chr 12, 31242081: 31242081
2DDX11NM_030653.3(DDX11): c.2271+2T> CSNVPathogenicrs730880279GRCh38Chr 12, 31102313: 31102313
3DDX11NM_030653.3(DDX11): c.2689_2691delAAG (p.Lys897del)deletionPathogenicrs730880280GRCh37Chr 12, 31256663: 31256665

Expression for genes affiliated with Warsaw Breakage Syndrome

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Search GEO for disease gene expression data for Warsaw Breakage Syndrome.

Pathways for genes affiliated with Warsaw Breakage Syndrome

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Pathways related to Warsaw Breakage Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4ERCC2, POLR1A
2
Show member pathways
9.4ERCC2, POLR1A
39.3BRIP1, ERCC2

GO Terms for genes affiliated with Warsaw Breakage Syndrome

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Cellular components related to Warsaw Breakage Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:00056548.4BRIP1, DDX11, ERCC2, POLR1A

Biological processes related to Warsaw Breakage Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1DNA duplex unwindingGO:00325089.9BRIP1, DDX11
2termination of RNA polymerase I transcriptionGO:00063639.9ERCC2, POLR1A
3transcription elongation from RNA polymerase I promoterGO:00063629.8ERCC2, POLR1A
4transcription initiation from RNA polymerase I promoterGO:00063619.4ERCC2, POLR1A

Molecular functions related to Warsaw Breakage Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1DNA-dependent ATPase activityGO:00080949.5DDX11, ERCC2
24 iron, 4 sulfur cluster bindingGO:00515399.4BRIP1, DDX11, ERCC2
3ATP-dependent DNA helicase activityGO:00040039.3BRIP1, DDX11, ERCC2

Sources for Warsaw Breakage Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet