loading...| Preferred Name |
Beckwith-Wiedemann Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34415 |
| ALT_DEFINITION |
A rare, overgrowth disorder in which babies are large at birth and may develop low blood sugar. Other common symptoms are a large tongue, large internal organs, and defects of the abdominal wall near the navel. Beckwith-Wiedemann syndrome increases the risk of developing certain cancers, especially Wilms tumor. A complex syndrome resulting from various genetic and epigenetic anomalies of the 11p15.5 chromosomal region, leading to dysregulated expression of imprinted genes. Specific genes involved include CDKN1C, H19, IGF2, and KCNQ1OT1. One of the key genetic anomalies is an imbalance between the paternally expressed IGF2 growth enhancer gene and the maternally expressed H19 growth suppressor gene, leading to fetal and postnatal overgrowth. The condition is typically characterized by macrosomia, macroglossia, umbilical hernia or more severe abdominal wall anomalies such as omphalocele, ear lobe indentations, and hypoglycemia associated with hyperinsulinemia due to pancreatic islet cell hyperplasia. Patients with this syndrome have an increased risk for development of embryonal tumors (particularly Wilms tumor and hepatoblastoma) and adrenal cortex carcinoma. |
| code |
C34415 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177537 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157711 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C186315 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177516 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C186341 |
| Contributing_Source |
NICHD CCPS GDC Cellosaurus PCDC |
| DEFINITION |
A genetic syndrome caused by abnormalities in chromosome 11. It is characterized by large birth weight, macroglossia, umbilical hernia, ear abnormalities, and hypoglycemia. Patients with this syndrome have an increased risk of developing embryonal tumors (gonadoblastoma, hepatoblastoma, Wilms tumor, rhabdomyosarcoma) and adrenal cortex carcinomas. |
| FULL_SYN |
Beckwith-Wiedemann Beckwith-Wiedemann Syndrome Beckwith-Wiedemann Syndrome/Isolated Hemihyperplasia Beckwith-Wiedemann syndrome |
| Is_Value_For_GDC_Property | |
| label |
Beckwith-Wiedemann Syndrome |
| Legacy Concept Name |
Beckwith-Wiedemann_Syndrome |
| Maps_To |
Beckwith-Wiedemann |
| Preferred_Name |
Beckwith-Wiedemann Syndrome |
| prefixIRI |
Thesaurus:C34415 |
| prefLabel |
Beckwith-Wiedemann Syndrome |
| Related_To_Genetic_Biomarker |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C24486 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20058 |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0004903 |
| subClassOf |