WABS
MCID: WRS002
MIFTS: 41

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 57 12 53 25 59 74 37 29 13 6 15 40 72
Wabs 57 12 25 59
Wbrs 74

Characteristics:

Orphanet epidemiological data:

59
warsaw breakage syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
warsaw breakage syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060535
OMIM 57 613398
KEGG 37 H00914
MeSH 44 D000015
Orphanet 59 ORPHA280558
MedGen 42 C3150658
UMLS 72 C3150658

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 warsaw syndrome and microcephaly. An important gene associated with Warsaw Breakage Syndrome is DDX11 (DEAD/H-Box Helicase 11), and among its related pathways/superpathways are RNA Polymerase I Promoter Escape and Assembly of RNA Polymerase-I Initiation Complex. 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 : 37
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 : 74 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 : 75 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

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:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 tetralogy of fallot 32 occasional (7.5%) HP:0001636
2 clinodactyly 32 HP:0030084
3 high palate 32 HP:0000218
4 intellectual disability 32 HP:0001249
5 hearing impairment 32 HP:0000365
6 global developmental delay 32 HP:0001263
7 microcephaly 32 HP:0000252
8 generalized hypotonia 32 HP:0001290
9 epicanthus 32 HP:0000286
10 intrauterine growth retardation 32 HP:0001511
11 wide mouth 32 HP:0000154
12 ventricular septal defect 32 HP:0001629
13 hypoplasia of the cochlea 32 HP:0008586
14 optic nerve coloboma 32 HP:0000588
15 sloping forehead 32 HP:0000340
16 cutis marmorata 32 HP:0000965
17 single transverse palmar crease 32 HP:0000954
18 cupped ear 32 HP:0000378
19 2-3 toe syndactyly 32 HP:0004691
20 small face 32 HP:0000274
21 psychomotor retardation 32 HP:0025356

Symptoms via clinical synopsis from OMIM:

57
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 Reduced mammosphere formation GR00396-S 8.8 POLR1A RAD17 TIMELESS

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:

41
Skin, Heart

Publications for Warsaw Breakage Syndrome

Articles related to Warsaw Breakage Syndrome:

(show all 38)
# Title Authors PMID Year
1
Warsaw breakage syndrome: Further clinical and genetic delineation. 38 8 71
30216658 2018
2
Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome. 38 8 71
23033317 2013
3
Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1. 38 8 71
20137776 2010
4
The Warsaw breakage syndrome-related protein DDX11 is required for ribosomal RNA synthesis and embryonic development. 38 71
26089203 2015
5
Warsaw Syndrome 71
31169992 2019
6
Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases. 38
31287223 2019
7
Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible? 38
30924321 2019
8
Molecular and Cellular Functions of the Warsaw Breakage Syndrome DNA Helicase DDX11. 38
30469382 2018
9
Interaction of the Warsaw breakage syndrome DNA helicase DDX11 with the replication fork-protection factor Timeless promotes sister chromatid cohesion. 38
30303954 2018
10
Warsaw breakage syndrome DDX11 helicase acts jointly with RAD17 in the repair of bulky lesions and replication through abasic sites. 38
30061412 2018
11
A Retrospective 10-Year Analysis of Water Absorbent Bead Ingestion in Children. 38
29854461 2018
12
Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae. 38
28960803 2017
13
How many roads lead to cohesinopathies? 38
28422453 2017
14
The lipopolysaccharide core oligosaccharide of Burkholderia plays a critical role in maintaining a proper gut symbiosis with the bean bug Riptortus pedestris. 38
28972189 2017
15
Exploring and exploiting the systemic effects of deregulated replication licensing. 38
26707000 2016
16
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. 38
26503245 2016
17
Defective sister chromatid cohesion is synthetically lethal with impaired APC/C function. 38
26423134 2015
18
Warsaw Breakage Syndrome--A further report, emphasising cutaneous findings. 38
25701697 2015
19
The role of collecting bladder wash fluid before biopsy procedure to help the cytological diagnosis of residual tumor. 38
26229243 2015
20
DNA helicases FANCM and DDX11 are determinants of PARP inhibitor sensitivity. 38
25583207 2015
21
A distinct triplex DNA unwinding activity of ChlR1 helicase. 38
25561740 2015
22
The Q Motif Is Involved in DNA Binding but Not ATP Binding in ChlR1 Helicase. 38
26474416 2015
23
Molecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndrome. 38
24487782 2014
24
Density Functional Theory of Open-Shell Systems. The 3d-Series Transition-Metal Atoms and Their Cations. 38
26579895 2014
25
Specialization among iron-sulfur cluster helicases to resolve G-quadruplex DNA structures that threaten genomic stability. 38
23935105 2013
26
Roles of ChlR1 DNA helicase in replication recovery from DNA damage. 38
23797032 2013
27
Disease-causing missense mutations in human DNA helicase disorders. 38
23276657 2013
28
Atrial activity extraction from single lead ECG recordings: evaluation of two novel methods. 38
23318044 2013
29
Chl1 DNA helicase regulates Scc2 deposition specifically during DNA-replication in Saccharomyces cerevisiae. 38
24086532 2013
30
DNA helicases associated with genetic instability, cancer, and aging. 38
23161009 2013
31
Decomposing atrial activity signal by combining ICA and WABS. 38
24111069 2013
32
Causes of morbidity and mortality of wild aquatic birds at Billabong Sanctuary, Townsville, North Queensland, Australia. 38
22545556 2012
33
Monitoring of wild birds for Newcastle disease virus in north Queensland, Australia. 38
21945812 2012
34
Biochemical characterization of Warsaw breakage syndrome helicase. 38
22102414 2012
35
Mammalian ChlR1 has a role in heterochromatin organization. 38
21854770 2011
36
Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome. 38
21490908 2010
37
Mixed-type autoimmune hemolytic anemia: differential diagnosis and a critical review of reported cases. 38
18564390 2008
38
Aortic stiffness, left ventricular hypertrophy and weekly averaged blood pressure (WAB) in patients on haemodialysis. 38
17255132 2007

Variations for Warsaw Breakage Syndrome

ClinVar genetic disease variations for Warsaw Breakage Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DDX11 NM_030653.4(DDX11): c.2689_2691del (p.Lys897del) deletion Pathogenic rs730880280 12:31256663-31256665 12:31103729-31103731
2 DDX11 NM_030653.4(DDX11): c.2271+2T> C single nucleotide variant Pathogenic rs730880279 12:31255247-31255247 12:31102313-31102313
3 DDX11 NM_030653.4(DDX11): c.788G> A (p.Arg263Gln) single nucleotide variant Pathogenic rs201968272 12:31242081-31242081 12:31089147-31089147
4 DDX11 NM_030653.4(DDX11): c.2576T> G (p.Val859Gly) single nucleotide variant Pathogenic 12:31256550-31256550 12:31103616-31103616
5 DDX11 NM_030653.4(DDX11): c.2457+1G> T single nucleotide variant Pathogenic 12:31255955-31255955 12:31103021-31103021
6 DDX11 NM_030653.4(DDX11): c.1133G> C (p.Arg378Pro) single nucleotide variant Uncertain significance rs368266910 12:31244696-31244696 12:31091762-31091762
7 DDX11 NM_030653.4(DDX11): c.1888del (p.Arg630fs) deletion not provided 12:31253581-31253581 12:31100647-31100647
8 DDX11 NM_030653.4(DDX11): c.2635C> T (p.Arg879Ter) single nucleotide variant not provided 12:31256609-31256609 12:31103675-31103675

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

74
# 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11 UBTF POLR1A
2 9.62 UBTF POLR1A

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 9.72 UBTF TIMELESS RAD17 POLR1A DDX11
2 nucleolus GO:0005730 9.46 UBTF RAD17 POLR1A DDX11
3 nucleoplasm GO:0005654 9.35 UBTF TIMELESS RAD17 POLR1A DDX11
4 fibrillar center GO:0001650 9.26 UBTF DDX11
5 nuclear chromatin GO:0000790 8.8 TIMELESS RAD17 DDX11

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.63 TIMELESS RAD17 DDX11
2 DNA repair GO:0006281 9.61 TIMELESS RAD17 DDX11
3 DNA replication GO:0006260 9.48 RAD17 DDX11
4 transcription initiation from RNA polymerase I promoter GO:0006361 9.4 UBTF POLR1A
5 termination of RNA polymerase I transcription GO:0006363 9.37 UBTF POLR1A
6 positive regulation of double-strand break repair GO:2000781 9.32 TIMELESS DDX11
7 DNA replication checkpoint GO:0000076 9.26 TIMELESS RAD17
8 cellular response to hydroxyurea GO:0072711 9.16 TIMELESS DDX11
9 cellular response to cisplatin GO:0072719 8.96 TIMELESS DDX11
10 cellular response to bleomycin GO:1904976 8.62 TIMELESS DDX11

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.26 UBTF TIMELESS POLR1A DDX11
2 chromatin binding GO:0003682 8.92 UBTF RAD17 POLR1A DDX11

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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