WBRS
MCID: WRS002
MIFTS: 30

Warsaw Breakage Syndrome (WBRS) malady

Categories: Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Warsaw Breakage Syndrome

Aliases & Descriptions for Warsaw Breakage Syndrome:

Name: Warsaw Breakage Syndrome 54 12 24 25 56 66 29 13 14 69
Wabs 12 25 56
Wbrs 66

Characteristics:

Orphanet epidemiological data:

56
warsaw breakage syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
warsaw breakage syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 613398
Disease Ontology 12 DOID:0060535
Orphanet 56 ORPHA280558
MedGen 40 C3150658
MeSH 42 D000015

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 roberts syndrome and autoimmune disease 3, and has symptoms including high palate, intellectual disability and muscular hypotonia. An important gene associated with Warsaw Breakage Syndrome is DDX11 (DEAD/H-Box Helicase 11). Affiliated tissues include heart and skin.

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 : 66 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: 613398

Related Diseases for Warsaw Breakage Syndrome

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

id Related Disease Score Top Affiliating Genes
1 roberts syndrome 10.0
2 autoimmune disease 3 9.9 BRIP1 DDX11
3 arrhythmogenic right ventricular dysplasia 9 9.1 BRIP1 DDX11 DGAT2L6 POLR1A TIMELESS

Symptoms & Phenotypes for Warsaw Breakage Syndrome

Symptoms by clinical synopsis from OMIM:

613398

Clinical features from OMIM:

613398

Human phenotypes related to Warsaw Breakage Syndrome:

32 (show all 19)
id Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 intellectual disability 32 HP:0001249
3 muscular hypotonia 32 HP:0001252
4 hearing impairment 32 HP:0000365
5 global developmental delay 32 HP:0001263
6 microcephaly 32 HP:0000252
7 epicanthus 32 HP:0000286
8 wide mouth 32 HP:0000154
9 intrauterine growth retardation 32 HP:0001511
10 tetralogy of fallot 32 HP:0001636
11 ventricular septal defect 32 HP:0001629
12 hypoplasia of the cochlea 32 HP:0008586
13 optic nerve coloboma 32 HP:0000588
14 sloping forehead 32 HP:0000340
15 cutis marmorata 32 HP:0000965
16 single transverse palmar crease 32 HP:0000954
17 cupped ear 32 HP:0000378
18 2-3 toe syndactyly 32 HP:0004691
19 small face 32 HP:0000274

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:

id Genetic test Affiliating Genes
1 Warsaw Breakage Syndrome 29 24 DDX11

Anatomical Context for Warsaw Breakage Syndrome

MalaCards organs/tissues related to Warsaw Breakage Syndrome:

39
Heart, Skin

Publications for Warsaw Breakage Syndrome

Articles related to Warsaw Breakage Syndrome:

id Title Authors Year
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
Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome. ( 21490908 )
2010
8
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:

66
id Symbol AA change Variation ID SNP ID
1 DDX11 p.Arg263Gln VAR_069099 rs201968272

ClinVar genetic disease variations for Warsaw Breakage Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DDX11 NM_030653.3(DDX11): c.2271+2T> C single nucleotide variant Pathogenic rs730880279 GRCh38 Chromosome 12, 31102313: 31102313
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.788G> A (p.Arg263Gln) single nucleotide variant Pathogenic rs201968272 GRCh37 Chromosome 12, 31242081: 31242081

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:

id Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 8.62 DDX11 TIMELESS

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

id Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.61 BRIP1 DDX11 TIMELESS
2 DNA replication GO:0006260 9.5 BRIP1 DDX11 TIMELESS
3 nucleobase-containing compound metabolic process GO:0006139 9.4 BRIP1 DDX11
4 DNA duplex unwinding GO:0032508 9.37 BRIP1 DDX11
5 cellular response to hydroxyurea GO:0072711 9.26 DDX11 TIMELESS
6 positive regulation of double-strand break repair GO:2000781 9.16 DDX11 TIMELESS
7 cellular response to cisplatin GO:0072719 8.96 DDX11 TIMELESS
8 cellular response to bleomycin GO:1904976 8.62 DDX11 TIMELESS

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

id Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.5 BRIP1 DDX11 POLR1A
2 helicase activity GO:0004386 9.4 BRIP1 DDX11
3 iron-sulfur cluster binding GO:0051536 9.37 BRIP1 DDX11
4 4 iron, 4 sulfur cluster binding GO:0051539 9.26 BRIP1 DDX11
5 ATP-dependent helicase activity GO:0008026 9.16 BRIP1 DDX11
6 ATP-dependent DNA helicase activity GO:0004003 8.96 BRIP1 DDX11
7 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 8.62 BRIP1 DDX11

Sources for Warsaw Breakage Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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