Beckwith-wiedemann syndrome

Preferred Label : Beckwith-wiedemann syndrome;

Symbol : BWS;

CISMeF acronym : BWCR; BWS; WBS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Exomphalos-macroglossia-gigantism syndrome; Emg syndrome; Wiedemann-beckwith syndrome; WBS;

Included titles and symbols : Beckwith-wiedemann syndrome chromosome region; BWCR;

Description : Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by contiguous gene duplication of imprinted region of 11p15.5; Caused by mutation in the nuclear receptor binding SET domain protein 1 (NSD1, 606681.0011); Caused by mutation in the cyclin-dependent kinase inhibitor 1C gene (CDKN1C, 600856.0001); Caused by contiguous gene deletion of imprinted region of 11p15.5; Caused by mutation in the KCNQ1-overlapping transcript 1 gene (KCNQ1OT1, 604115.0001);

Neoplasia : Wilms tumor; Hepatoblastoma; Adrenal carcinoma; Gonadoblastoma;

Laboratory abnormalities : Duplication or deletion at 11p15.5;

Prefixed ID : #130650;

Details

Origin ID

130650;

UMLS CUI

C0004903;

Automatic exact mappings (from CISMeF team)
- CDKN1C wt Allele [NCIt concept]
- Congenital malformation syndromes involving early overgrowth [ICD-10 Sub-category]
- Congenital malformation syndromes involving early overgrowth [ICD-10 Sub-category (who)]
- ELN wt Allele [NCIt concept]
- H19 wt Allele [NCIt concept]
- elastin [ORDO Gene]
- symbol withdrawn BWS [HGNC gene]
Currated CISMeF NLP mapping
- Beckwith Wiedemann syndrome [Disease (Nov.)]
- Beckwith-Wiedemann Syndrome [NCIt concept]
- 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 [MeSH Descriptor]
- beckwith-wiedemann syndrome [SNOMED Notion]
DO Cross reference
- Beckwith-Wiedemann syndrome [DO Concept]
False automatic mappings
- Botswana [NCIt concept]
Genes related to phenotype
- Cyclin-dependent kinase inhibitor 1c [OMIM gene]
- H19/igf2-imprinting control region [OMIM gene]
- Kcnq1-opposite strand/antisense transcript 1 [OMIM gene]
HPO term(s)
- Accelerated skeletal maturation [HPO term]
- Adrenal carcinoma [HPO term]
- Adrenocortical carcinoma [HPO term]
- Adrenocortical cytomegaly [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cardiomegaly [HPO term]
- Cardiomyopathy [HPO term]
- Coarse facial features [HPO term]
- Cryptorchidism [HPO term]
- Dandy-Walker malformation [HPO term]
- Diastasis recti [HPO term]
- Enlarged kidney [HPO term]
- Gonadoblastoma [HPO term]
- Hemihypertrophy [HPO term]
- Hepatoblastoma [HPO term]
- Hepatomegaly [HPO term]
- Large fontanelles [HPO term]
- Macroglossia [HPO term]
- Midface retrusion [HPO term]
- Neonatal hypoglycemia [HPO term]
- Nephroblastoma [HPO term]
- Nephrocalcinosis [HPO term]
- Nephrolithiasis [HPO term]
- Nevus flammeus [HPO term]
- Omphalocele [HPO term]
- Overgrowth [HPO term]
- Overgrowth of external genitalia [HPO term]
- Pancreatic hyperplasia [HPO term]
- Placental mesenchymal dysplasia [HPO term]
- Posterior helix pit [HPO term]
- Prominent metopic ridge [HPO term]
- Prominent occiput [HPO term]
- Proptosis [HPO term]
- Renal cortical cysts [HPO term]
- Vesicoureteral reflux [HPO term]
ORDO concept(s)
- Beckwith-Wiedemann syndrome [ORDO Disease]
- Beckwith-Wiedemann syndrome due to CDKN1C mutation [ORDO Disease]
- Beckwith-Wiedemann syndrome due to NSD1 mutation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Beckwith Wiedemann syndrome [Disease (Nov.)]
- Beckwith-Wiedemann Syndrome [NCIt concept]
- Beckwith-Wiedemann syndrome [ORDO Disease]
- Beckwith-Wiedemann syndrome [MeSH concept]
- Beckwith-Wiedemann syndrome [MedDRA Preferred Term]
- Beckwith-Wiedemann syndrome [DO Concept]
- Beckwith-Wiedemann syndrome [PASCAL descriptor]
- Beckwith-Wiedemann syndrome [ICD-11 More detail]
- Beckwith-Wiedemann syndrome (disorder) [SNOMED CT concept]
- beckwith-wiedemann syndrome [SNOMED Notion]
- beckwith-wiedemann syndrome [MeSH Descriptor]

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