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BWS
MCID: BCK002
MIFTS: 59
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Beckwith-Wiedemann Syndrome (BWS)
Categories:
Cancer diseases, Fetal diseases, Genetic diseases, Liver diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Beckwith-Wiedemann Syndrome:
Characteristics:Orphanet epidemiological data:59
beckwith-wiedemann syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: adolescent,late childhood;
beckwith-wiedemann syndrome due to cdkn1c mutation
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
most cases are isolated wide phenotypic spectrum associated with assisted reproductive technologies occurs in 1 in 10,500 live births imprinting at 11p15.5 HPO:32GeneReviews:24
Penetrance
Penetrance in familial cases is high if the parent-of-origin effect of imprinted domains is considered. for example, a person may inherit a cdkn1c pathogenic variant but have no features of bws because the cdkn1c pathogenic variant was on the paternally derived allele, which is normally not expressed (i.e., the pathogenic variant is silenced by the normal imprinting process)...
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Cancer diseases Anatomical: Nephrological diseases Liver diseases
ICD10:
33
34
External Ids:
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NIH Rare Diseases
:
53
Beckwith-Wiedemann syndrome (BWS) is a growth disorder that can affect several parts of the body. Babies and children are larger than normal usually until age 8, when growth slows down, resulting in an average height in adults. Symptoms may include one side or area of the body growing more than the other side (asymmetric growth or hemihyperplasia), omphalocele or other abdominal wall defect at birth, low blood sugar (hypoglycemia) in infancy, an abnormally large tongue (macroglossia), abnormally large abdominal organs, creases or pits in the skin near the ears, and kidney abnormalities. Affected children have an increased risk to develop tumors, particularly a rare form of kidney cancer called Wilms tumor, a cancer of muscle tissue called rhabdomyosarcoma, and a form of liver cancer called hepatoblastoma. Some people only have one symptom while others may have many of the symptoms.
The cause of BWS is complex and is different for different people, but involves genes that control body growth. The genes, including the CDKN1C, H19, IGF2, and KCNQ1OT1 genes, are located on chromosome 11. In most cases BWS is caused by problems with the genomic imprinting of these genes. Genomic imprinting refers to having some genes that are active (expressed) only when inherited from the father and others that are active only when inherited from the mother. Less commonly, changes or mutations in the CDKN1C gene or larger changes to chromosome 11, such as a translocation, deletion, or duplication, may cause BWS.
Diagnosis of BWS is based on symptoms with the support of genetic testing. At present however, there is no clearly accepted diagnostic criteria as doctors are trying to understand the full spectrum of possible symptoms. While there is no cure for BWS, there are treatments available for many of the symptoms. Treatment may include medication for hypoglycemia, surgery to repair an omphalocele or other birth defect, or surgery to reduce size of the tongue (macroglossia repair). Early intervention, speech therapy, occupational therapy, and physical therapy may also be recommended. Evaluation by an orthopedic surgeon may be helpful depending on the areas of the body affected by overgrowth. Recommended management of BWS includes screening for the development of Wilms tumor, rhabdomyosarcoma, and hepatoblastoma.
MalaCards based summary : Beckwith-Wiedemann Syndrome, also known as wiedemann-beckwith syndrome, is related to beckwith-wiedemann syndrome due to imprinting defect of 11p15 and macroglossia. An important gene associated with Beckwith-Wiedemann Syndrome is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C), and among its related pathways/superpathways is Cell cycle. The drugs Vincristine and Dactinomycin have been mentioned in the context of this disorder. Affiliated tissues include Kidney, kidney and tongue, and related phenotypes are obesity and hypothyroidism Disease Ontology : 12 A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations. Genetics Home Reference : 25 Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal (macrosomia) and tend to be taller than their peers during childhood. Growth begins to slow by about age 8, and adults with this condition are not unusually tall. In some children with Beckwith-Wiedemann syndrome, specific parts of the body on one side or the other may grow abnormally large, leading to an asymmetric or uneven appearance. This unusual growth pattern, which is known as hemihyperplasia, usually becomes less apparent over time. OMIM : 57 Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010). Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder. (130650) UniProtKB/Swiss-Prot : 75 Beckwith-Wiedemann syndrome: A disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumors. Wikipedia : 76 Beckwith�??Wiedemann syndrome (/�?b�?k�?wɪθ �?viːd�?.m�?n/; abbreviated BWS) is an overgrowth disorder... more...
GeneReviews:
NBK1394
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:130650Human phenotypes related to Beckwith-Wiedemann Syndrome:59 32 (show top 50) (show all 84)
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Drugs for Beckwith-Wiedemann Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 24)
Interventional clinical trials:
Cochrane evidence based reviews: beckwith-wiedemann syndrome |
MalaCards organs/tissues related to Beckwith-Wiedemann Syndrome:41
Kidney,
Tongue,
Liver,
Skin,
Testes,
Placenta,
Breast
Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Beckwith-Wiedemann Syndrome:
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Articles related to Beckwith-Wiedemann Syndrome:(show top 50) (show all 642)
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Genes related to Beckwith-Wiedemann Syndrome (14 elite genes):(show all 50) - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Beckwith-Wiedemann Syndrome:75
ClinVar genetic disease variations for Beckwith-Wiedemann Syndrome:6 (show top 50) (show all 848)
Cosmic variations for Beckwith-Wiedemann Syndrome:9
Copy number variations for Beckwith-Wiedemann Syndrome from CNVD:7 (show all 12)
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Search
GEO
for disease gene expression data for Beckwith-Wiedemann Syndrome.
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Pathways related to Beckwith-Wiedemann Syndrome according to KEGG:37
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Biological processes related to Beckwith-Wiedemann Syndrome according to GeneCards Suite gene sharing:
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