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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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Id | http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34415
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34415
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Preferred Name | Beckwith-Wiedemann Syndrome |
Definitions |
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.
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Synonyms |
Beckwith-Wiedemann
Beckwith-Wiedemann syndrome
Beckwith-Wiedemann Syndrome/Isolated Hemihyperplasia
Beckwith-Wiedemann Syndrome
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
label | Beckwith-Wiedemann Syndrome
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Maps_To | Beckwith-Wiedemann
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Legacy Concept Name | Beckwith-Wiedemann_Syndrome
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Is_Value_For_GDC_Property | |
Preferred_Name | Beckwith-Wiedemann Syndrome
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Semantic_Type | Disease or Syndrome
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prefixIRI | Thesaurus:C34415
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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.
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UMLS_CUI | C0004903
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code | C34415
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Related_To_Genetic_Biomarker | |
subClassOf | |
type | |
FULL_SYN |
Beckwith-Wiedemann
Beckwith-Wiedemann syndrome
Beckwith-Wiedemann Syndrome/Isolated Hemihyperplasia
Beckwith-Wiedemann Syndrome
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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.
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Contributing_Source |
Cellosaurus
CCPS
GDC
NICHD
PCDC
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