WABS
MCID: WRS002
MIFTS: 35

Warsaw Breakage Syndrome (WABS)

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

Aliases & Classifications for Warsaw Breakage Syndrome

MalaCards integrated aliases for Warsaw Breakage Syndrome:

Name: Warsaw Breakage Syndrome 58 12 54 26 60 76 38 30 13 6 15 41 74
Wabs 58 12 26 60
Wbrs 76

Characteristics:

Orphanet epidemiological data:

60
warsaw breakage syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
warsaw breakage syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Warsaw Breakage Syndrome

Genetics Home Reference : 26 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 fanconi anemia, complementation group a and roberts syndrome. 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 related phenotypes are tetralogy of fallot and clinodactyly

Disease Ontology : 12 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 : 76 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 : 77 Warsaw breakage syndrome is a rare genetic condition. Fewer than 10 cases have been reported by... more...

Description 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:

# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group a 10.1
2 roberts syndrome 10.1

Symptoms & Phenotypes for Warsaw Breakage Syndrome

Human phenotypes related to Warsaw Breakage Syndrome:

33 (show all 21)
# Description HPO Frequency HPO Source Accession
1 tetralogy of fallot 33 occasional (7.5%) HP:0001636
2 clinodactyly 33 HP:0030084
3 high palate 33 HP:0000218
4 intellectual disability 33 HP:0001249
5 hearing impairment 33 HP:0000365
6 global developmental delay 33 HP:0001263
7 microcephaly 33 HP:0000252
8 epicanthus 33 HP:0000286
9 intrauterine growth retardation 33 HP:0001511
10 wide mouth 33 HP:0000154
11 ventricular septal defect 33 HP:0001629
12 hypoplasia of the cochlea 33 HP:0008586
13 optic nerve coloboma 33 HP:0000588
14 sloping forehead 33 HP:0000340
15 generalized hypotonia 33 HP:0001290
16 cutis marmorata 33 HP:0000965
17 single transverse palmar crease 33 HP:0000954
18 cupped ear 33 HP:0000378
19 2-3 toe syndactyly 33 HP:0004691
20 small face 33 HP:0000274
21 psychomotor retardation 33 HP:0025356

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
hypotonia
mental retardation
psychomotor 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:

27 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.73 UBTF
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.73 RAD17
3 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.73 RAD17
4 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.73 RAD17 UBTF
5 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.73 UBTF
6 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.73 UBTF
7 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.73 RAD17
8 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.73 UBTF
9 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.73 UBTF
10 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.73 UBTF
11 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.73 UBTF
12 Reduced mammosphere formation GR00396-S 8.8 POLR1A RAD17 TIMELESS

Drugs & Therapeutics for Warsaw Breakage Syndrome

Search Clinical Trials , 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 30 DDX11

Anatomical Context for Warsaw Breakage Syndrome

MalaCards organs/tissues related to Warsaw Breakage Syndrome:

42
Skin

Publications for Warsaw Breakage Syndrome

Articles related to Warsaw Breakage Syndrome:

(show all 15)
# Title Authors Year
1
Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible? ( 30924321 )
2019
2
Warsaw breakage syndrome DDX11 helicase acts jointly with RAD17 in the repair of bulky lesions and replication through abasic sites. ( 30061412 )
2018
3
Warsaw breakage syndrome: Further clinical and genetic delineation. ( 30216658 )
2018
4
Interaction of the Warsaw breakage syndrome DNA helicase DDX11 with the replication fork-protection factor Timeless promotes sister chromatid cohesion. ( 30303954 )
2018
5
Molecular and Cellular Functions of the Warsaw Breakage Syndrome DNA Helicase DDX11. ( 30469382 )
2018
6
Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae. ( 28960803 )
2017
7
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 )
2016
8
Warsaw Breakage Syndrome--A further report, emphasising cutaneous findings. ( 25701697 )
2015
9
The Warsaw breakage syndrome-related protein DDX11 is required for ribosomal RNA synthesis and embryonic development. ( 26089203 )
2015
10
Molecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndrome. ( 24487782 )
2014
11
Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome. ( 23033317 )
2013
12
Decomposing atrial activity signal by combining ICA and WABS. ( 24111069 )
2013
13
Biochemical characterization of Warsaw breakage syndrome helicase. ( 22102414 )
2012
14
Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome. ( 21490908 )
2010
15
Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1. ( 20137776 )
2010

Variations for Warsaw Breakage Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 DDX11 p.Arg263Gln VAR_069099 rs201968272

ClinVar genetic disease variations for Warsaw Breakage Syndrome:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 DDX11 NM_030653.3(DDX11): c.2689_2691delAAG (p.Lys897del) deletion Pathogenic rs730880280 GRCh38 Chromosome 12, 31103729: 31103731
2 DDX11 NM_030653.3(DDX11): c.2689_2691delAAG (p.Lys897del) deletion Pathogenic rs730880280 GRCh37 Chromosome 12, 31256663: 31256665
3 DDX11 NM_030653.3(DDX11): c.2271+2T> C single nucleotide variant Pathogenic rs730880279 GRCh38 Chromosome 12, 31102313: 31102313
4 DDX11 NM_030653.3(DDX11): c.2271+2T> C single nucleotide variant Pathogenic rs730880279 GRCh37 Chromosome 12, 31255247: 31255247
5 DDX11 NM_030653.3(DDX11): c.788G> A (p.Arg263Gln) single nucleotide variant Pathogenic rs201968272 GRCh37 Chromosome 12, 31242081: 31242081
6 DDX11 NM_030653.3(DDX11): c.788G> A (p.Arg263Gln) single nucleotide variant Pathogenic rs201968272 GRCh38 Chromosome 12, 31089147: 31089147
7 DDX11 NM_030653.4(DDX11): c.1133G> C (p.Arg378Pro) single nucleotide variant Uncertain significance rs368266910 GRCh37 Chromosome 12, 31244696: 31244696
8 DDX11 NM_030653.4(DDX11): c.1133G> C (p.Arg378Pro) single nucleotide variant Uncertain significance rs368266910 GRCh38 Chromosome 12, 31091762: 31091762
9 DDX11 NM_030653.3(DDX11): c.1888delC (p.Arg630Glyfs) deletion not provided GRCh38 Chromosome 12, 31100647: 31100647
10 DDX11 NM_030653.3(DDX11): c.1888delC (p.Arg630Glyfs) deletion not provided GRCh37 Chromosome 12, 31253581: 31253581
11 DDX11 NM_030653.3(DDX11): c.2635C> T (p.Arg879Ter) single nucleotide variant not provided GRCh37 Chromosome 12, 31256609: 31256609
12 DDX11 NM_030653.3(DDX11): c.2635C> T (p.Arg879Ter) single nucleotide variant not provided GRCh38 Chromosome 12, 31103675: 31103675
13 DDX11 NM_030653.4(DDX11): c.2576T> G (p.Val859Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 31103616: 31103616
14 DDX11 NM_030653.4(DDX11): c.2576T> G (p.Val859Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 31256550: 31256550

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 POLR1A UBTF
2 9.62 POLR1A UBTF

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

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

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 DDX11 POLR1A TIMELESS UBTF
2 chromatin binding GO:0003682 8.92 DDX11 POLR1A RAD17 UBTF

Sources for Warsaw Breakage Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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