Williams Syndrome

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"Williams Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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.

Descriptor ID	D018980
MeSH Number(s)	C10.597.606.643.970 C14.280.484.150.535.960 C16.131.260.970 C16.320.180.970
Concept/Terms	Williams Syndrome Williams Syndrome Syndrome, Williams Contiguous Gene Syndrome, Williams Supravalvar Aortic Stenosis Syndrome Williams-Beuren Syndrome Syndrome, Williams-Beuren Williams Beuren Syndrome Beuren Syndrome Syndrome, Beuren Hypercalcemia-Supravalvar Aortic Stenosis Aortic Stenoses, Hypercalcemia-Supravalvar Aortic Stenosis, Hypercalcemia-Supravalvar Hypercalcemia Supravalvar Aortic Stenosis Hypercalcemia-Supravalvar Aortic Stenoses Stenoses, Hypercalcemia-Supravalvar Aortic Stenosis, Hypercalcemia-Supravalvar Aortic Chromosome 7q11.23 Deletion Syndrome Williams Contiguous Gene Syndrome

Below are MeSH descriptors whose meaning is more general than "Williams Syndrome".

Diseases [C]
Nervous System Diseases [C10]
Neurologic Manifestations [C10.597]
Neurobehavioral Manifestations [C10.597.606]
Intellectual Disability [C10.597.606.643]
Williams Syndrome [C10.597.606.643.970]
Cardiovascular Diseases [C14]
Heart Diseases [C14.280]
Heart Valve Diseases [C14.280.484]
Aortic Valve Stenosis [C14.280.484.150]
Aortic Stenosis, Supravalvular [C14.280.484.150.535]
Williams Syndrome [C14.280.484.150.535.960]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Chromosome Disorders [C16.131.260]
Williams Syndrome [C16.131.260.970]
Genetic Diseases, Inborn [C16.320]
Chromosome Disorders [C16.320.180]
Williams Syndrome [C16.320.180.970]

Below are MeSH descriptors whose meaning is more specific than "Williams Syndrome".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Williams Syndrome" by people in this website by year, and whether "Williams Syndrome" was a major or minor topic of these publications.

Bar chart showing 4 publications over 4 distinct years, with a maximum of 1 publications in 2003 and 2012 and 2019 and 2020

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2003	0	1	1
2012	1	0	1
2019	1	0	1
2020	1	0	1

Below are the most recent publications written about "Williams Syndrome" by people in Profiles.

Rodolico C, Politano L, Portaro S, Murru S, Boccone L, Sera F, Passamano L, Brizzi T, Tupler R. Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy. Eur J Paediatr Neurol. 2020 Jul; 27:25-29.

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Barak B, Zhang Z, Liu Y, Nir A, Trangle SS, Ennis M, Levandowski KM, Wang D, Quast K, Boulting GL, Li Y, Bayarsaihan D, He Z, Feng G. Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioral and myelin alterations rescuable by a remyelinating drug. Nat Neurosci. 2019 05; 22(5):700-708.

View in: PubMed
Capossela S, Muzio L, Bertolo A, Bianchi V, Dati G, Chaabane L, Godi C, Politi LS, Biffo S, D'Adamo P, Mallamaci A, Pannese M. Growth defects and impaired cognitive-behavioral abilities in mice with knockout for Eif4h, a gene located in the mouse homolog of the Williams-Beuren syndrome critical region. Am J Pathol. 2012 Mar; 180(3):1121-1135.

View in: PubMed
Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Döhner H, Döhner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC. Human chromosome 7: DNA sequence and biology. Science. 2003 May 02; 300(5620):767-72.

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