WABS
MCID: WRS002
MIFTS: 47

Warsaw Breakage Syndrome (WABS)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Warsaw Breakage Syndrome

MalaCards integrated aliases for Warsaw Breakage Syndrome:

Name: Warsaw Breakage Syndrome 56 12 52 25 58 73 36 29 13 6 15 39 71
Wabs 56 12 25 58
Wbrs 73

Characteristics:

Orphanet epidemiological data:

58
warsaw breakage syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
warsaw breakage syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Warsaw Breakage Syndrome

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 cornelia de lange syndrome 1 and fanconi anemia, complementation group j. An important gene associated with Warsaw Breakage Syndrome is DDX11 (DEAD/H-Box Helicase 11), and among its related pathways/superpathways are Cell Cycle, Mitotic and Mitotic Metaphase and Anaphase. Affiliated tissues include skin and heart, and related phenotypes are tetralogy of fallot and clinodactyly

Disease Ontology : 12 A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11.

KEGG : 36 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.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Warsaw breakage syndrome is a rare genetic condition. Fewer than 10 cases have been reported by... more...

More information from OMIM: 613398

Related Diseases for Warsaw Breakage Syndrome

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

(show all 30)
# Related Disease Score Top Affiliating Genes
1 cornelia de lange syndrome 1 29.8 RAD21 NIPBL
2 fanconi anemia, complementation group j 29.6 RTEL1 H2AC18 DDX11 BRIP1
3 fanconi anemia, complementation group a 28.6 RTEL1 RAD17 H2AC18 DDX11 CDCA5 BRIP1
4 roberts syndrome 26.5 SMC3 SMC1A RAD21 PDS5A NIPBL H2AC18
5 cornelia de lange syndrome 26.1 SMC3 SMC1A RAD21 PDS5A NIPBL H2AC18
6 warsaw syndrome 11.9
7 microcephaly 10.5
8 alacrima, achalasia, and mental retardation syndrome 10.4
9 aphasia 10.4
10 sensorineural hearing loss 10.4
11 wilms tumor 1 10.2
12 fibrosarcoma 10.2
13 nijmegen breakage syndrome 10.2
14 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
15 bloom syndrome 10.0
16 premature centromere division 10.0
17 xeroderma pigmentosum, variant type 10.0
18 deficiency anemia 10.0
19 exanthem 10.0
20 telangiectasis 10.0
21 treacher collins syndrome 1 10.0 UBTF POLR1A ESCO1
22 xeroderma pigmentosum, complementation group d 9.8 RTEL1 H2AC18 DDX11
23 wiedemann-steiner syndrome 9.8 SMC3 SMC1A
24 fanconi anemia, complementation group n 9.6 H2AC18 BRIP1
25 diaphragmatic hernia, congenital 9.5 SMC3 SMC1A NIPBL
26 congenital hypoplastic anemia 9.5 RTEL1 H2AC18 DDX11 BRIP1
27 trichothiodystrophy 1, photosensitive 9.5 RTEL1 H2AC18 DDX11 BRIP1
28 fanconi anemia, complementation group d1 9.5 H2AC18 BRIP1
29 chronic atrial and intestinal dysrhythmia 8.3 SMC3 SMC1A RAD21 NIPBL H2AC18 ESCO2
30 sc phocomelia syndrome 7.9 SMC3 SMC1A RAD21 PDS5A NIPBL ESCO2

Graphical network of the top 20 diseases related to Warsaw Breakage Syndrome:



Diseases related to Warsaw Breakage Syndrome

Symptoms & Phenotypes for Warsaw Breakage Syndrome

Human phenotypes related to Warsaw Breakage Syndrome:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 tetralogy of fallot 31 occasional (7.5%) HP:0001636
2 clinodactyly 31 HP:0030084
3 intellectual disability 31 HP:0001249
4 high palate 31 HP:0000218
5 hearing impairment 31 HP:0000365
6 global developmental delay 31 HP:0001263
7 intrauterine growth retardation 31 HP:0001511
8 ventricular septal defect 31 HP:0001629
9 microcephaly 31 HP:0000252
10 sloping forehead 31 HP:0000340
11 generalized hypotonia 31 HP:0001290
12 epicanthus 31 HP:0000286
13 wide mouth 31 HP:0000154
14 2-3 toe syndactyly 31 HP:0004691
15 hypoplasia of the cochlea 31 HP:0008586
16 optic nerve coloboma 31 HP:0000588
17 cutis marmorata 31 HP:0000965
18 single transverse palmar crease 31 HP:0000954
19 cupped ear 31 HP:0000378
20 small face 31 HP:0000274
21 psychomotor retardation 31 HP:0025356

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
psychomotor retardation
hypotonia
mental retardation

Cardiovascular Heart:
tetralogy of fallot (rare)
ventricular septal defect (vsd)

Growth Other:
intrauterine growth retardation (iugr)

Skeletal Hands:
single palmar crease
bilateral clinodactyly of the fifth fingers

Skin Nails Hair Skin:
cutis marmorata (in some patients)
hypopigmented patches (in some patients)
hyperpigmented patches (in some patients)

Head And Neck Face:
small face
elongated face
narrow bifrontal diameter
receding forehead

Head And Neck Mouth:
high-arched palate
large mouth

Head And Neck Ears:
cup-shaped ears
deafness, sensorineural
bilateral hypoplastic cochlea

Skeletal Feet:
syndactyly of the second and third toes

Head And Neck Eyes:
bilateral epicanthal folds
coloboma of the right optic disc

Cardiovascular Vascular:
jugular hypoplasia

Clinical features from OMIM:

613398

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.02 BRIP1 RAD17 RAD21 SMC1A SMC3

MGI Mouse Phenotypes related to Warsaw Breakage Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.61 CDCA5 DDX11 ESCO2 NIPBL PDS5A POLR1A
2 mortality/aging MP:0010768 9.44 CDCA5 DDX11 ESCO2 NIPBL PDS5A POLR1A

Drugs & Therapeutics for Warsaw Breakage Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Role of Bacterial Toxins in Human Skin Disease Recruiting NCT02910791

Search NIH Clinical Center for Warsaw Breakage Syndrome

Genetic Tests for Warsaw Breakage Syndrome

Genetic tests related to Warsaw Breakage Syndrome:

# Genetic test Affiliating Genes
1 Warsaw Breakage Syndrome 29 DDX11

Anatomical Context for Warsaw Breakage Syndrome

MalaCards organs/tissues related to Warsaw Breakage Syndrome:

40
Skin, Heart

Publications for Warsaw Breakage Syndrome

Articles related to Warsaw Breakage Syndrome:

(show all 41)
# Title Authors PMID Year
1
Warsaw breakage syndrome: Further clinical and genetic delineation. 61 56 6
30216658 2018
2
Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome. 61 56 6
23033317 2013
3
Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1. 61 56 6
20137776 2010
4
The Warsaw breakage syndrome-related protein DDX11 is required for ribosomal RNA synthesis and embryonic development. 61 6
26089203 2015
5
Warsaw Syndrome 6
31169992 2019
6
Non-redundant roles in sister chromatid cohesion of the DNA helicase DDX11 and the SMC3 acetyl transferases ESCO1 and ESCO2. 61
31935221 2020
7
The expanding phenotypes of cohesinopathies: one ring to rule them all! 61
31516082 2019
8
Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases. 61
31287223 2019
9
Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible? 61
30924321 2019
10
Spotlight on Warsaw Breakage Syndrome. 61
31824187 2019
11
Molecular and Cellular Functions of the Warsaw Breakage Syndrome DNA Helicase DDX11. 61
30469382 2018
12
Interaction of the Warsaw breakage syndrome DNA helicase DDX11 with the replication fork-protection factor Timeless promotes sister chromatid cohesion. 61
30303954 2018
13
Warsaw breakage syndrome DDX11 helicase acts jointly with RAD17 in the repair of bulky lesions and replication through abasic sites. 61
30061412 2018
14
A Retrospective 10-Year Analysis of Water Absorbent Bead Ingestion in Children. 61
29854461 2018
15
The lipopolysaccharide core oligosaccharide of Burkholderia plays a critical role in maintaining a proper gut symbiosis with the bean bug Riptortus pedestris. 61
28972189 2017
16
Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae. 61
28960803 2017
17
How many roads lead to cohesinopathies? 61
28422453 2017
18
Exploring and exploiting the systemic effects of deregulated replication licensing. 61
26707000 2016
19
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. 61
26503245 2016
20
Defective sister chromatid cohesion is synthetically lethal with impaired APC/C function. 61
26423134 2015
21
Warsaw Breakage Syndrome--A further report, emphasising cutaneous findings. 61
25701697 2015
22
The role of collecting bladder wash fluid before biopsy procedure to help the cytological diagnosis of residual tumor. 61
26229243 2015
23
DNA helicases FANCM and DDX11 are determinants of PARP inhibitor sensitivity. 61
25583207 2015
24
A distinct triplex DNA unwinding activity of ChlR1 helicase. 61
25561740 2015
25
The Q Motif Is Involved in DNA Binding but Not ATP Binding in ChlR1 Helicase. 61
26474416 2015
26
Molecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndrome. 61
24487782 2014
27
Density Functional Theory of Open-Shell Systems. The 3d-Series Transition-Metal Atoms and Their Cations. 61
26579895 2014
28
Specialization among iron-sulfur cluster helicases to resolve G-quadruplex DNA structures that threaten genomic stability. 61
23935105 2013
29
Roles of ChlR1 DNA helicase in replication recovery from DNA damage. 61
23797032 2013
30
Disease-causing missense mutations in human DNA helicase disorders. 61
23276657 2013
31
Atrial activity extraction from single lead ECG recordings: evaluation of two novel methods. 61
23318044 2013
32
Decomposing atrial activity signal by combining ICA and WABS. 61
24111069 2013
33
DNA helicases associated with genetic instability, cancer, and aging. 61
23161009 2013
34
Chl1 DNA helicase regulates Scc2 deposition specifically during DNA-replication in Saccharomyces cerevisiae. 61
24086532 2013
35
Causes of morbidity and mortality of wild aquatic birds at Billabong Sanctuary, Townsville, North Queensland, Australia. 61
22545556 2012
36
Monitoring of wild birds for Newcastle disease virus in north Queensland, Australia. 61
21945812 2012
37
Biochemical characterization of Warsaw breakage syndrome helicase. 61
22102414 2012
38
Mammalian ChlR1 has a role in heterochromatin organization. 61
21854770 2011
39
Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome. 61
21490908 2010
40
Mixed-type autoimmune hemolytic anemia: differential diagnosis and a critical review of reported cases. 61
18564390 2008
41
Aortic stiffness, left ventricular hypertrophy and weekly averaged blood pressure (WAB) in patients on haemodialysis. 61
17255132 2007

Variations for Warsaw Breakage Syndrome

ClinVar genetic disease variations for Warsaw Breakage Syndrome:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DDX11 NM_030653.4(DDX11):c.2689_2691del (p.Lys897del)deletion Pathogenic 8370 rs730880280 12:31256661-31256663 12:31103727-31103729
2 DDX11 NM_030653.4(DDX11):c.2271+2T>CSNV Pathogenic 8369 rs730880279 12:31255247-31255247 12:31102313-31102313
3 DDX11 NM_030653.4(DDX11):c.788G>A (p.Arg263Gln)SNV Pathogenic 39995 rs201968272 12:31242081-31242081 12:31089147-31089147
4 DDX11 NM_030653.4(DDX11):c.1763-1G>CSNV Pathogenic 252749 rs148856317 12:31250818-31250818 12:31097884-31097884
5 DDX11 NM_030653.4(DDX11):c.2457+1G>TSNV Pathogenic 638411 12:31255955-31255955 12:31103021-31103021
6 DDX11 NM_030653.4(DDX11):c.2576T>G (p.Val859Gly)SNV Conflicting interpretations of pathogenicity 624563 rs1565941025 12:31256550-31256550 12:31103616-31103616
7 DDX11 NM_030653.4(DDX11):c.1133G>C (p.Arg378Pro)SNV Uncertain significance 421308 rs368266910 12:31244696-31244696 12:31091762-31091762
8 DDX11 NM_030653.4(DDX11):c.1819G>C (p.Ala607Pro)SNV Likely benign 802830 12:31250875-31250875 12:31097941-31097941
9 DDX11 NM_030653.4(DDX11):c.2572G>A (p.Val858Ile)SNV Benign 802831 12:31256546-31256546 12:31103612-31103612
10 DDX11 NM_030653.4(DDX11):c.1699C>G (p.Gln567Glu)SNV Benign 802829 12:31249861-31249861 12:31096927-31096927
11 DDX11 NM_030653.4(DDX11):c.1888del (p.Arg630fs)deletion not provided 585158 rs766936952 12:31253580-31253580 12:31100646-31100646
12 DDX11 NM_030653.4(DDX11):c.2635C>T (p.Arg879Ter)SNV not provided 585157 rs780059558 12:31256609-31256609 12:31103675-31103675

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

73
# Symbol AA change Variation ID SNP ID
1 DDX11 p.Arg263Gln VAR_069099 rs201968272

Expression for Warsaw Breakage Syndrome

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

Pathways for Warsaw Breakage Syndrome

GO Terms for Warsaw Breakage Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.19 UBTF TIMELESS SMC3 SMC1A RTEL1 RAD21
2 nuclear chromatin GO:0000790 9.91 TIMELESS RAD17 NIPBL H2AC18 DDX11 CDCA5
3 nucleoplasm GO:0005654 9.86 UBTF TIMELESS SMC3 SMC1A RTEL1 RAD21
4 chromosome, centromeric region GO:0000775 9.77 SMC3 SMC1A RAD21 PDS5A CDCA5
5 chromatin GO:0000785 9.7 SMC3 RAD21 PDS5A NIPBL ESCO2 ESCO1
6 nuclear matrix GO:0016363 9.63 SMC3 SMC1A RAD21
7 cohesin complex GO:0008278 9.62 SMC3 SMC1A RAD21 CDCA5
8 meiotic cohesin complex GO:0030893 9.58 SMC3 SMC1A RAD21
9 mitotic spindle pole GO:0097431 9.48 SMC3 SMC1A
10 chromosome GO:0005694 9.36 TIMELESS SMC3 SMC1A RAD21 PDS5A NIPBL

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.91 TIMELESS SMC3 SMC1A RAD21 PDS5A CDCA5
2 cellular response to DNA damage stimulus GO:0006974 9.91 TIMELESS SMC3 SMC1A RTEL1 RAD21 RAD17
3 cell cycle GO:0007049 9.85 TIMELESS SMC3 SMC1A RAD21 RAD17 PDS5A
4 DNA replication GO:0006260 9.8 TIMELESS RTEL1 RAD17 DDX11 BRIP1
5 meiotic cell cycle GO:0051321 9.78 SMC3 SMC1A RAD21
6 double-strand break repair GO:0006302 9.77 RAD21 NIPBL ESCO2 CDCA5 BRIP1
7 DNA duplex unwinding GO:0032508 9.74 RTEL1 DDX11 BRIP1
8 stem cell population maintenance GO:0019827 9.72 SMC3 SMC1A NIPBL
9 nucleobase-containing compound metabolic process GO:0006139 9.7 RTEL1 DDX11 BRIP1
10 transcription initiation from RNA polymerase I promoter GO:0006361 9.65 UBTF POLR1A
11 DNA damage checkpoint GO:0000077 9.64 RAD17 BRIP1
12 termination of RNA polymerase I transcription GO:0006363 9.64 UBTF POLR1A
13 transcription elongation from RNA polymerase I promoter GO:0006362 9.63 UBTF POLR1A
14 chromosome organization GO:0051276 9.63 SMC3 SMC1A
15 regulation of DNA replication GO:0006275 9.63 SMC3 ESCO2 ESCO1
16 replication fork processing GO:0031297 9.62 RTEL1 DDX11
17 regulation of mitotic spindle assembly GO:1901673 9.62 SMC3 SMC1A
18 mitotic sister chromatid cohesion GO:0007064 9.62 SMC1A PDS5A NIPBL CDCA5
19 negative regulation of DNA replication GO:0008156 9.61 RAD17 PDS5A
20 DNA repair GO:0006281 9.61 TIMELESS SMC3 SMC1A RTEL1 RAD21 RAD17
21 mitotic chromosome condensation GO:0007076 9.6 NIPBL CDCA5
22 protein localization to chromatin GO:0071168 9.59 RAD21 ESCO2
23 positive regulation of double-strand break repair GO:2000781 9.58 TIMELESS DDX11
24 cellular response to hydroxyurea GO:0072711 9.58 TIMELESS DDX11
25 DNA replication checkpoint GO:0000076 9.56 TIMELESS RAD17
26 cellular response to cisplatin GO:0072719 9.54 TIMELESS DDX11
27 positive regulation of sister chromatid cohesion GO:0045876 9.51 RAD21 DDX11
28 post-translational protein acetylation GO:0034421 9.49 ESCO2 ESCO1
29 cellular response to bleomycin GO:1904976 9.48 TIMELESS DDX11
30 sister chromatid cohesion GO:0007062 9.1 SMC3 SMC1A RAD21 ESCO2 ESCO1 DDX11

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

# Name GO ID Score Top Affiliating Genes
1 helicase activity GO:0004386 9.61 RTEL1 DDX11 BRIP1
2 DNA helicase activity GO:0003678 9.54 RTEL1 DDX11 BRIP1
3 iron-sulfur cluster binding GO:0051536 9.5 RTEL1 DDX11 BRIP1
4 4 iron, 4 sulfur cluster binding GO:0051539 9.43 RTEL1 DDX11 BRIP1
5 acetyltransferase activity GO:0016407 9.4 ESCO2 ESCO1
6 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.33 RTEL1 DDX11 BRIP1
7 chromatin binding GO:0003682 9.32 UBTF SMC3 SMC1A RAD21 RAD17 POLR1A
8 mediator complex binding GO:0036033 9.13 SMC3 SMC1A NIPBL

Sources for Warsaw Breakage Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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