Beckwith-Wiedemann Syndrome (BWS)

Alias:
Exomphalos-Macroglossia-Gigantism Syndrome
Wiedemann-Beckwith Syndrome
Bws
Beckwith-Wiedemann Syndrome Due to Cdkn1c Mutation
Emg Abnormality
Emg Syndrome
Beckwith-Wiedemann Syndrome Due to Nsd1 Mutation
Macroglossia Exomphalos Gigantism
Beckwith-Wiedemann Spectrum
Bwsp
Wbs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Beckwith-Wiedemann Syndrome, also known as exomphalos-macroglossia-gigantism syndrome, is related to hepatoblastoma and macroglossia. An important gene associated with Beckwith-Wiedemann Syndrome is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C). The drugs Acetylcholine and Vincristine have been mentioned in the context of this disorder. Affiliated tissues include Kidney and tongue, and related phenotypes are neoplasm and tall stature
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
1-9/100000
105
1168
198

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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