Beckwith-Wiedemann Syndrome

Preferred Label : Beckwith-Wiedemann Syndrome;

NCIt related terms : Beckwith-Wiedemann; Beckwith-Wiedemann Syndrome/Isolated Hemihyperplasia;

NCIt 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.;

Alternative definition : NICHD: 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.; NCI-GLOSS: 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.;

Codes from synonyms : CDR0000304689;

Details

Origin ID

C34415;

UMLS CUI

C0004903;

Automatic exact mappings (from CISMeF team)
- Congenital malformation syndromes involving early overgrowth [ICD-10 Sub-category (who)]
- Congenital malformation syndromes involving early overgrowth [ICD-10 Sub-category]
Currated CISMeF NLP mapping
- Beckwith Wiedemann syndrome [Disease (Nov.)]
- Beckwith-Wiedemann syndrome [PASCAL descriptor]
- Beckwith-Wiedemann syndrome [DO Concept]
- Beckwith-Wiedemann syndrome [ICD-11 More detail]
- Beckwith-Wiedemann syndrome [MedDRA Preferred Term]
- Beckwith-Wiedemann syndrome [MeSH concept]
- Beckwith-Wiedemann syndrome [ORDO Disease]
- Beckwith-Wiedemann syndrome (disorder) [SNOMED CT concept]
- Beckwith-wiedemann syndrome [OMIM Phenotype]
- beckwith-wiedemann syndrome [MeSH Descriptor]
- beckwith-wiedemann syndrome [SNOMED Notion]
DO Cross reference
- Beckwith-Wiedemann syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Beckwith Wiedemann syndrome [Disease (Nov.)]
- Beckwith-Wiedemann syndrome [ORDO Disease]
- Beckwith-Wiedemann syndrome [PASCAL descriptor]
- Beckwith-Wiedemann syndrome [DO Concept]
- Beckwith-Wiedemann syndrome [ICD-11 More detail]
- Beckwith-Wiedemann syndrome [MedDRA Preferred Term]
- Beckwith-Wiedemann syndrome [MeSH concept]
- Beckwith-Wiedemann syndrome (disorder) [SNOMED CT concept]
- Beckwith-wiedemann syndrome [OMIM Phenotype]
- beckwith-wiedemann syndrome [SNOMED Notion]
- beckwith-wiedemann syndrome [MeSH Descriptor]
associated_with_malfunction_of_gene_product
- Histone-Lysine N-Methyltransferase, H3 Lysine-36 and H4 Lysine-20 Specific [NCIt concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- HL Authorized Value Terminology [NCIt concept]
- HL Medical History Table [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_associated_gene
- H19 Gene [NCIt concept]
- H19 wt Allele [NCIt concept]
- NSD1 wt Allele [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 11 [NCIt concept]
disease_mapped_to_gene
- Cyclin-Dependent Kinase Inhibitor Gene [NCIt concept]
disease_may_have_associated_disease
- Adrenal Cortical Carcinoma [NCIt concept]
- Gonadoblastoma [NCIt concept]
- Hepatoblastoma [NCIt concept]
- Kidney Wilms Tumor [NCIt concept]
- Rhabdomyosarcoma [NCIt concept]
disease_may_have_cytogenetic_abnormality
- del(11p15.5) [NCIt concept]
disease_may_have_molecular_abnormality
- CDKN1C Gene Mutation [NCIt concept]
may_be_associated_disease_of_disease
- Childhood Pancreatoblastoma [NCIt concept]
- Pancreatoblastoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- CDK2AP1 Gene [NCIt concept]
- CDK2AP1 wt Allele [NCIt concept]
- CDKN1A Gene [NCIt concept]
- CDKN1A wt Allele [NCIt concept]
- CDKN1B Gene [NCIt concept]
- CDKN1B wt Allele [NCIt concept]
- CDKN1C Gene [NCIt concept]
- CDKN1C wt Allele [NCIt concept]
- CDKN2A Gene [NCIt concept]
- CDKN2A wt Allele [NCIt concept]
- CDKN2B Gene [NCIt concept]
- CDKN2B wt Allele [NCIt concept]
- CDKN2C Gene [NCIt concept]
- CDKN2C wt Allele [NCIt concept]
- CDKN2D Gene [NCIt concept]
- CDKN2D wt Allele [NCIt concept]
- CDKN3 Gene [NCIt concept]
- CDKN3 wt Allele [NCIt concept]
- Cyclin-Dependent Kinase Inhibitor Gene [NCIt concept]
related_to_genetic_biomarker
- CDKN1C Gene [NCIt concept]
- H19 Gene [NCIt concept]
- IGF2 Gene [NCIt concept]
- KCNQ1OT1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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