Beckwith-Wiedemann Syndrome malady
Categories: Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases
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Aliases & Descriptions for Beckwith-Wiedemann Syndrome:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: adolescent,late childhood
Inheritance: autosomal dominant inheritance
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)...
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Nephrological diseases
ICD10: 30 29
NIH Rare Diseases:47 Beckwith-Wiedemann syndrome (BWS) is a growth disorder that can affect several parts of the body. Affected infants are larger than normal and are taller than their peers during childhood. Growth slows down in several years, and affected adults are not unusually tall. Some children have asymmetric growth which usually becomes less apparent over time. Other signs and symptoms may include an 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 Wilms tumor and hepatoblastoma. BWS may be caused by several types of genetic changes, but in about 85% of cases only one person in a family is diagnosed with the disorder. Last updated: 8/24/2015
MalaCards based summary: Beckwith-Wiedemann Syndrome, also known as wiedemann-beckwith syndrome, is related to beckwith-wiedemann syndrome due to cdkn1c mutation and beckwith-wiedemann syndrome due to 11p15 microdeletion, and has symptoms including tall stature, cryptorchidism and nephropathy. An important gene associated with Beckwith-Wiedemann Syndrome is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C). Affiliated tissues include tongue, kidney and skin.
Disease Ontology:11 A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations.
UniProtKB/Swiss-Prot:69 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.
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:51 Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The... (130650) more...
Wikipedia:70 Beckwith–Wiedemann syndrome (/ˈbɛkˌwɪθ ˈviːdə.mən/; abbreviated BWS) is an overgrowth... more...
GeneReviews for NBK1394
Human phenotypes related to Beckwith-Wiedemann Syndrome:63 53 (show all 74)
UMLS symptoms related to Beckwith-Wiedemann Syndrome:hepatomegaly
Drugs for Beckwith-Wiedemann Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 20)
Interventional clinical trials:
Search NIH Clinical Center for Beckwith-Wiedemann Syndrome
MalaCards organs/tissues related to Beckwith-Wiedemann Syndrome:35
Tongue, Kidney, Skin, Liver, Adrenal gland, Heart, Pancreas
Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Beckwith-Wiedemann Syndrome:
Articles related to Beckwith-Wiedemann Syndrome:(show top 50) (show all 542)
UniProtKB/Swiss-Prot genetic disease variations for Beckwith-Wiedemann Syndrome:69
Clinvar genetic disease variations for Beckwith-Wiedemann Syndrome:5 (show all 28)
Copy number variations for Beckwith-Wiedemann Syndrome from CNVD:6 (show all 12)
Search GEO for disease gene expression data for Beckwith-Wiedemann Syndrome.
Biological processes related to Beckwith-Wiedemann Syndrome according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet