BWS
MCID: BCK002
MIFTS: 61
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Beckwith-Wiedemann Syndrome (BWS)
Categories:
Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Beckwith-Wiedemann Syndrome:
Characteristics:Inheritance:
Beckwith-Wiedemann Syndrome Due to Cdkn1c Mutation:
Autosomal dominant 58
Prevelance:
1-9/100000 (Europe, Spain, Japan, Jamaica)
1-5/10000 (Italy) 58
Age Of Onset:
Beckwith-Wiedemann Syndrome:
Antenatal,Neonatal 58
Beckwith-Wiedemann Syndrome Due to Cdkn1c Mutation:
Infancy,Neonatal 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
imprinted disorder most cases are isolated wide phenotypic spectrum associated with assisted reproductive technologies occurs in 1 in 10,500 live births imprinting at 11p15.5 GeneReviews: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 Anatomical: Nephrological diseases
ICD10:
31
32
Orphanet: 58
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MedlinePlus Genetics: 42 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 larger than normal (macrosomia), and some may 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 body parts may grow abnormally large on one side of the body, leading to an asymmetric or uneven appearance. This unusual growth pattern, which is known as hemihyperplasia, usually becomes less apparent over time.The signs and symptoms of Beckwith-Wiedemann syndrome vary among affected individuals. Some children with this condition are born with an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the belly-button. Other abdominal wall defects, such as a soft out-pouching around the belly-button (an umbilical hernia), are also common. Some infants with Beckwith-Wiedemann syndrome have an abnormally large tongue (macroglossia), which may interfere with breathing, swallowing, and speaking. Other major features of this condition include abnormally large abdominal organs (visceromegaly), creases or pits in the skin near the ears, low blood sugar (hypoglycemia) in infancy, and kidney abnormalities.Children with Beckwith-Wiedemann syndrome are at an increased risk of developing several types of cancerous and noncancerous tumors, particularly a form of kidney cancer called Wilms tumor and a form of liver cancer called hepatoblastoma. Tumors develop in about 10 percent of people with this condition and almost always appear in childhood.Most children and adults with Beckwith-Wiedemann syndrome do not have serious medical problems associated with the condition. Their life expectancy is usually normal. MalaCards based summary: Beckwith-Wiedemann Syndrome, also known as wiedemann-beckwith syndrome, is related to hepatoblastoma and macroglossia. An important gene associated with Beckwith-Wiedemann Syndrome is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C). The drugs Acetylcholine and Vincristine have been mentioned in the context of this disorder. Affiliated tissues include Kidney, tongue and liver, and related phenotypes are tall stature and large for gestational age GARD: 19 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, changess 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. 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) (Updated 08-Dec-2022) UniProtKB/Swiss-Prot: 73 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. Orphanet: 58 Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations. Disease Ontology: 11 A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations. Wikipedia: 75 Beckwith-Wiedemann syndrome (/ˈbɛkˌwɪθ ˈviːdə.mən/; abbreviated BWS) is an overgrowth disorder usually... more...
GeneReviews:
NBK1394
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Human phenotypes related to Beckwith-Wiedemann Syndrome:58 30 (show top 50) (show all 85)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:130650 (Updated 08-Dec-2022) |
Drugs for Beckwith-Wiedemann Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 19)
Interventional clinical trials:
Cochrane evidence based reviews: beckwith-wiedemann syndrome |
Organs/tissues related to Beckwith-Wiedemann Syndrome:
MalaCards :
Kidney,
Tongue,
Liver,
Skin,
Placenta,
Pancreas,
Pituitary
![]() 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 1622)
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ClinVar genetic disease variations for Beckwith-Wiedemann Syndrome:5 (show top 50) (show all 1069)
UniProtKB/Swiss-Prot genetic disease variations for Beckwith-Wiedemann Syndrome:73
Copy number variations for Beckwith-Wiedemann Syndrome from CNVD:6 (show all 12)
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Search
GEO
for disease gene expression data for Beckwith-Wiedemann Syndrome.
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Biological processes related to Beckwith-Wiedemann Syndrome according to GeneCards Suite gene sharing:
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