Williams-Beuren Syndrome (WBS)

Alias:
Williams Syndrome
Deletion 7q11.23
Monosomy 7q11.23
Wbs
Chromosome 7q11.23 Deletion Syndrome, 1.5- to 1.8-Mb
Hypercalcemia-Supravalvar Aortic Stenosis
Elfin Facies with Hypercalcemia
Fanconi Schlesinger Syndrome
Elfin Facies Syndrome
Beuren Syndrome
Wms
Ws
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Williams-Beuren Syndrome, also known as williams syndrome, is related to supravalvular aortic stenosis and williams-beuren region duplication syndrome, and has symptoms including hyperacusis, abnormal weight gain and chronic constipation. An important gene associated with Williams-Beuren Syndrome is ELN (Elastin), and among its related pathways/superpathways is 7q11.23 copy number variation syndrome. The drugs Buspirone and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include heart and bone, and related phenotypes are intellectual disability and hyperreflexia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
1-5/10000
140
1130
148

Medical Symptom

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Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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