Statements (36)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
gptkb:BWS
|
| gptkbp:associatedWith |
gptkb:Wilms_tumor
gptkb:hepatoblastoma gptkb:rhabdomyosarcoma adrenocortical carcinoma |
| gptkbp:causedBy |
abnormal regulation of imprinted genes on chromosome 11p15
|
| gptkbp:characterizedBy |
hemihyperplasia
increased risk of childhood tumors macroglossia neonatal hypoglycemia omphalocele overgrowth |
| gptkbp:diagnosedBy |
genetic testing
clinical features |
| gptkbp:firstDescribed |
gptkb:Hans-Rudolf_Wiedemann
gptkb:J._Bruce_Beckwith |
| https://www.w3.org/2000/01/rdf-schema#label |
Beckwith-Wiedemann syndrome
|
| gptkbp:ICD-10_code |
Q87.3
|
| gptkbp:inheritance |
autosomal dominant
sporadic |
| gptkbp:MeSH_ID |
D001519
|
| gptkbp:OMIM |
130650
|
| gptkbp:prevalence |
1 in 13,700 births
|
| gptkbp:riskFactor |
assisted reproductive technology
|
| gptkbp:symptom |
abdominal wall defects
ear creases or pits macroglossia nephromegaly visceromegaly |
| gptkbp:treatment |
supportive care
surgical intervention tumor surveillance |
| gptkbp:bfsParent |
gptkb:chromosome_11p15.5_(HRAS)
gptkb:rhabdomyosarcoma |
| gptkbp:bfsLayer |
5
|