WS
MCID: WLL003
MIFTS: 50

Williams Syndrome (WS) malady

Nephrological, Endocrine, Genetic categories

Summaries for Williams Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NINDS:44 Williams Syndrome (WS) is a rare genetic disorder characterized by mild to moderate mental retardation or learning difficulties, a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety. The most significant medical problem associated with WS is cardiovascular disease caused by narrowed arteries. WS is also associated with elevated blood calcium levels in infancy. A random genetic mutation (deletion of a small piece of chromosome 7), rather than inheritance, most often causes the disorder. However, individuals who have WS have a 50 percent chance of passing it on if they decide to have children. The characteristic facial features of WS include puffiness around the eyes, a short nose with a broad nasal tip, wide mouth, full cheeks, full lips, and a small chin. People with WS are also likely to have a long neck, sloping shoulders, short stature, limited mobility in their joints, and curvature of the spine. Some individuals with WS have a star-like pattern in the iris of their eyes. Infants with WS are often irritable and colicky, with feeding problems that keep them from gaining weight. Chronic abdominal pain is common in adolescents and adults. By age 30, the majority of individuals with WS have diabetes or pre-diabetes and mild to moderate sensorineural hearing loss (a form of deafness due to disturbed function of the auditory nerve). For some people, hearing loss may begin as early as late childhood. WS also is associated with a characteristic ?cognitive profile? of mental strengths and weaknesses composed of strengths in verbal short-term memory and language, combined with severe weakness in visuospatial construction (the skills used to copy patterns, draw, or write). Within language, the strongest skills are typically in concrete, practical vocabulary, which in many cases is in the low average to average range for the general population. Abstract or conceptual-relational vocabulary is much more limited. Most older children and adults with WS speak fluently and use good grammar. More than 50% of children with WS have attention deficit disorders (ADD or ADHD), and about 50% have specific phobias, such as a fear of loud noises. The majority of individuals with WS worry excessively.

MalaCards: Williams Syndrome, also known as williams-beuren syndrome, is related to hypercalcemia and n syndrome. An important gene associated with Williams Syndrome is ELN (elastin). The compounds vitamin d and genistein have been mentioned in the context of this disorder. Affiliated tissues include skin, ovary and spinal cord.

Genetics Home Reference:21 Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.

NIH Rare Diseases:43 Williams syndrome is a developmental disorder that affects many parts of the body. this condition is characterized by mild to moderate intellectual disability, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. williams syndrome is caused by missing genes from a specific region of chromosome 7. the deleted region includes more than 25 genes and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. although williams syndrome is considered an autosomal dominant condition, most cases are not inherited, but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. last updated: 11/16/2011

Wikipedia:64 Williams syndrome (WS or WMS; also Williams–Beuren syndrome or WBS) is a rare neurodevelopmental... more...

Description from OMIM:47 143880,185500

GeneReviews summary for williams

Aliases & Classifications for Williams Syndrome

Sources:
64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44NINDS, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Nephrological, Endocrine


Characteristics (Orphanet epidemiological data):

49
familial infantile hypercalcemia with suppressed intact parathyroid hormone:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

williams syndrome 64 19 43 20 22 21 44 45 61
williams-beuren syndrome 19 43 21
infantile hypercalcemia 21 61
wbs 43 21
wms 43 21
familial infantile hypercalcemia with suppressed intact parathyroid hormone 49
autosomal recessive infantile hypercalcemia 49
hypercalcemia-supravalvar aortic stenosis 21
supravalvar aortic stenosis syndrome 21
elfin facies with hypercalcemia 21
supravalvular aortic stenosis 61
supravalvar aortic stenosis 47
hypercalcemia, infantile 47
elfin facies syndrome 21
beuren syndrome 21
ws 21


External Ids:

OMIM47 143880
ICD10 via Orphanet26 E83.5

Related Diseases for Williams Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Williams Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 158)
idRelated DiseaseScoreTop Affiliating Genes
1hypercalcemia30.2ELN
2n syndrome10.9
3adult syndrome10.7
4familial hypercholesterolemia10.6
5hypercholesterolemia10.6
6supravalvular aortic stenosis10.5
7williams-beuren region duplication syndrome10.5
8young syndrome10.5
9char syndrome10.5
10subvalvular aortic stenosis10.5
11macroglobulinemia10.5
12hyperacusis10.4
13rubella10.4
14coronary sinus stenosis10.4
15neurofibromatosis10.4
16autistic disorder10.4
17chromosome 7q deletion10.4
18mass syndrome10.4
19autism spectrum disorder10.4
20faces syndrome10.4
21zori stalker williams syndrome10.4
22waardenburg syndrome type i10.3
23macroglobulinemia, waldenstrom, somatic10.3
24micro syndrome10.3
25short syndrome10.3
26waardenburg's syndrome10.3
27weaver syndrome10.3
28waardenburg syndrome type 310.3
29waardenburg syndrome type 2a10.3
30waardenburg syndrome type iva10.3
31prader-willi syndrome10.2
32down syndrome10.2
33angina pectoris10.2
34atrioventricular block10.2
35carotid stenosis10.2
36mitral valve stenosis10.2
37cutis laxa10.2
38takayasu's arteritis10.2
39osteogenesis imperfecta10.2
40autosomal dominant disease10.2
41vascular disease10.2
42congenital mitral stenosis10.2
43fibromuscular dysplasia10.2
44pulmonic stenosis10.2
45microtia10.2
46congenital pulmonary valve stenosis10.2
47congenital coronary artery aneurysm10.2
48aortic valve dysplasia10.2
49stroke, ischemic10.2
50atypical autism10.2

Graphical network of the top 20 diseases related to Williams Syndrome:



Diseases related to williams syndrome

Clinical Features for Williams Syndrome

Sources:
47OMIM
See all sources

Clinical features from OMIM:

143880,185500

Clinical synopsis from OMIM:

143880

Drugs & Therapeutics for Williams Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Williams Syndrome

Drug clinical trials:

Search ClinicalTrials for Williams Syndrome

Search NIH Clinical Center for Williams Syndrome

Search CenterWatch for Williams Syndrome

Genetic Tests for Williams Syndrome

Sources:
20GeneTests, 22GTR
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Genetic tests related to Williams Syndrome:

id Genetic test Affiliating Genes
1 Williams Syndrome20 22 ELN

Anatomical Context for Williams Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Williams Syndrome:

33
Skin, Ovary, Spinal cord, Brain, Kidney, Cortex, Cerebellum, Heart, Skeletal muscle, Colon, Thyroid, T cells, B lymphoblasts, B cells, Prefrontal cortex, Amygdala

Animal Models for Williams Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Williams Syndrome

Sources:
51PubMed
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Articles related to Williams Syndrome:

(show top 50)    (show all 818)
idTitleAuthorsYear
1
Clinical expression of familial Williams-Beuren syndrome in a Turkish family. (24057591)
2014
2
Neural correlates of visual integration in Williams syndrome: gamma oscillation patterns in a model of impaired coherence. (23587664)
2013
3
Prevalence of diabetes and pre-diabetes in a cohort of Italian young adults with Williams syndrome. (23495209)
2013
4
Isolated cervical spinal canal stenosis at C-1 in the pediatric population and in Williams syndrome. (23540732)
2013
5
Pathways to language: a naturalistic study of children with Williams syndrome and children with Down syndrome. (23217293)
2013
6
Gaze aversion during social style interactions in autism spectrum disorder and Williams syndrome. (23123875)
2013
7
Cardiovascular manifestations of Williams syndrome: Imaging findings. (24331936)
2013
8
Longitudinal assessment of intellectual abilities of children with Williams syndrome: multilevel modeling of performance on the Kaufman Brief Intelligence Test-Second Edition. (22515828)
2012
9
Learning without representational change: development of numerical estimation in individuals with Williams syndrome. (23106740)
2012
10
Familial Williams-Beuren syndrome ascertained by screening rather than targeted diagnosis. (22473150)
2012
11
Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome. (22319452)
2012
12
Visually guided step descent in children with Williams syndrome. (22251294)
2012
13
Immunogenicity, safety and tolerability of monovalent 2009 pandemic influenza A/H1N1 MF59-adjuvanted vaccine in children and adolescents with Williams or Cornelia De Lange syndrome. (21508673)
2011
14
Anthropometric and body-mass composition suggests an intrinsic feature in Williams-Beuren syndrome. (22249549)
2011
15
Bilateral burkitt lymphoma of the ovaries: a report of a case in a child with williams syndrome. (21687537)
2011
16
Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions. (21328569)
2011
17
Recurrent achalasia in a child with Williams-Beuren syndrome. (22053584)
2011
18
Using novel control groups to dissect the amygdala's role in Williams syndrome. (21731599)
2011
19
Long-term outcome of large artificial patch aortic repair for diffuse stenosis in Williams syndrome. (20941567)
2010
20
Long-term outcomes of patients with cardiovascular abnormalities and williams syndrome. (20211336)
2010
21
Health and social outcomes in adults with Williams syndrome: findings from cross-sectional and longitudinal cohorts. (20097042)
2010
22
Ischemic stroke in Williams-Beuren syndrome: a case report. (19502139)
2009
23
Spatial competences in Williams syndrome: a radial arm maze study. (19429385)
2009
24
Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion. (18292220)
2008
25
Hypersociability in Williams syndrome: a role for the amygdala? (18622788)
2008
26
Nature and nurture: Williams syndrome across cultures. (17973792)
2007
27
Outcome of pulmonary and aortic stenosis in Williams-Beuren syndrome in an Asian cohort. (17537022)
2007
28
MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions. (17090394)
2007
29
Orthodontic orthognathic surgical treatment of a subject with Williams Beuren syndrome a follow-up from 8 to 25 years of age. (17702793)
2007
30
Pragmatic language profiles of school-age children with autism spectrum disorders and Williams syndrome. (17971496)
2007
31
Reduced parietal and visual cortical activation during global processing in Williams syndrome. (17518929)
2007
32
Williams-Beuren syndrome. (16543440)
2006
33
Hyperacusis in Williams syndrome: characteristics and associated neuroaudiologic abnormalities. (16476938)
2006
34
Visual depth processing in Williams-Beuren syndrome. (15965761)
2005
35
Burkitt lymphoma and Williams syndrome: a model for children with a multisystem disorder and malignancy. (15701989)
2005
36
Clinical manifestations and molecular investigation of 50 patients with Williams syndrome in the Greek population. (15774842)
2005
37
Music and anxiety in Williams syndrome: a harmonious or discordant relationship? (16080773)
2005
38
Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study. (14967851)
2004
39
Exploring Williams-Beuren syndrome using myGrid. (15262813)
2004
40
Identification of additional transcripts in the Williams-Beuren syndrome critical region. (12073013)
2002
41
Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome. (11779826)
2002
42
Review of referrals for the FISH detection of Williams syndrome highlights the importance of testing in supravalvular aortic stenosis/pulmonary stenosis. (11428332)
2001
43
WBSCR14, a putative transcription factor gene deleted in Williams- Beuren syndrome: complete characterisation of the human gene and the mouse ortholog. (10780788)
2000
44
STAG3, a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the Williams- Beuren syndrome deletion. (10698974)
2000
45
Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. (9915950)
1999
46
Williams syndrome and the elastin gene in Thai patients. (10730539)
1999
47
Microdeletion oe chromosomal region 7Q11.23 in Williams syndrome. (9071842)
1997
48
Dermatoglyphic peculiarities in patients with Williams-Beuren syndrome. (7856657)
1994
49
Williams-Beuren syndrome in monozygotic twins with variable expression. (8256808)
1993
50
A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1. (1583646)
1992

Genetic Variations for Williams Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Williams Syndrome:

63
id Symbol AA change Variation SNP ID
1CYP24A1p.Leu409SerVAR_048466rs6068812
2CYP24A1p.Arg159GlnVAR_066409
3CYP24A1p.Glu322LysVAR_066410
4CYP24A1p.Arg396TrpVAR_066411rs114368325

Expression for genes affiliated with Williams Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Williams Syndrome

Search GEO for disease gene expression data for Williams Syndrome.

Pathways for genes affiliated with Williams Syndrome

Compounds for genes affiliated with Williams Syndrome

Sources:
45Novoseek, 29IUPHAR, 60Tocris Bioscience, 2BitterDB, 11DrugBank, 24HMDB, 50PharmGKB
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Compounds related to Williams Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vitamin d459.2CYP24A1, ELN
2genistein45 29 60 2 11 2414.2CYP24A1, ELN
3cycloheximide459.1ELN, CYP24A1
4retinoic acid45 2410.1CYP24A1, ELN
5dexamethasone45 50 29 1112.0CYP24A1, ELN
6estrogen458.8ELN, CYP24A1

GO Terms for genes affiliated with Williams Syndrome

Products for genes affiliated with Williams Syndrome

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Sources for Williams Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet