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Williams Syndrome (Williams-Beuren Syndrome)

A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
Also Known As:
Williams-Beuren Syndrome; Syndrome, Williams; Beuren Syndrome; Chromosome 7q11.23 Deletion Syndrome; Hypercalcemia-Supravalvar Aortic Stenosis; Supravalvar Aortic Stenosis Syndrome; Williams Contiguous Gene Syndrome; Aortic Stenoses, Hypercalcemia-Supravalvar; Aortic Stenosis, Hypercalcemia-Supravalvar; Hypercalcemia Supravalvar Aortic Stenosis; Hypercalcemia-Supravalvar Aortic Stenoses; Stenoses, Hypercalcemia-Supravalvar Aortic; Stenosis, Hypercalcemia-Supravalvar Aortic; Syndrome, Beuren; Syndrome, Williams-Beuren; Williams Beuren Syndrome; Contiguous Gene Syndrome, Williams
Networked: 463 relevant articles (9 outcomes, 21 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Hypercalcemia (Milk Alkali Syndrome)
2. Pathologic Constriction (Stenosis)
3. Vomiting
4. Osteoporosis
5. Constipation

Experts

1. Kozel, Beth A: 12 articles (06/2022 - 12/2011)
2. Bayarsaihan, Dashzeveg: 10 articles (07/2019 - 01/2004)
3. Pober, Barbara R: 9 articles (01/2021 - 05/2008)
4. Knutsen, Russell H: 8 articles (06/2022 - 12/2011)
5. Morris, Colleen A: 7 articles (01/2020 - 07/2003)
6. Fujiki, Ryoji: 7 articles (02/2014 - 06/2003)
7. Kato, Shigeaki: 7 articles (02/2014 - 06/2003)
8. Kitagawa, Hirochika: 7 articles (02/2014 - 06/2003)
9. Mecham, Robert P: 6 articles (01/2021 - 02/2008)
10. Makeyev, Aleksandr V: 6 articles (05/2013 - 07/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Williams Syndrome:
1. CalciumIBA
2. Vitamin DFDA LinkGeneric
3. Pamidronate (Aredia)FDA LinkGeneric
4. Growth Hormone (Somatotropin)IBA
5. Verapamil (Calan)FDA LinkGeneric
6. CurcuminIBA
7. TOR Serine-Threonine KinasesIBA
8. NADPH Oxidases (NAD(P)H oxidase)IBA
9. Endothelins (Endothelin)IBA
10. DenosumabFDA Link

Therapies and Procedures

1. Therapeutics
2. Stents
3. Anesthesia
4. Cardiopulmonary Resuscitation (CPR)
5. Dental Esthetics (Cosmetic Dentistry)