WS
MCID: WLL003
MIFTS: 58

Williams Syndrome (WS) malady

Nephrological diseases, Endocrine diseases, Genetic diseases categories

Summaries for Williams Syndrome

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42NIH Rare Diseases, 43NINDS, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NINDS:43 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 adult 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 heart, eye and brain.

NIH Rare Diseases:42 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

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.

Wikipedia:63 Williams syndrome (WS or WBS; also Williams–Beuren syndrome or WBS) is a rare neurodevelopmental... more...

Description from OMIM:46 143880,185500

GeneReviews summary for williams

Aliases & Classifications for Williams Syndrome

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60UMLS, 46OMIM, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 20GeneTests, 22GTR, 43NINDS, 44Novoseek, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 63 19 42 20 22 21 43 44 60
williams-beuren syndrome 19 42 21
infantile hypercalcemia 21 60
wms 42 21
wbs 42 21
familial infantile hypercalcemia with suppressed intact parathyroid hormone 48
autosomal recessive infantile hypercalcemia 48
hypercalcemia-supravalvar aortic stenosis 21
supravalvar aortic stenosis syndrome 21
elfin facies with hypercalcemia 21
supravalvular aortic stenosis 60
supravalvar aortic stenosis 46
hypercalcemia, infantile 46
elfin facies syndrome 21
beuren syndrome 21
ws 21


External Ids:

OMIM46 143880
ICD10 via Orphanet26 E83.5

Related Diseases for Williams Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Williams Syndrome:



Diseases related to williams syndrome

Clinical Features for Williams Syndrome

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46OMIM
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Clinical features from OMIM:

143880,185500

Clinical synopsis from OMIM:

143880

Drugs & Therapeutics for Williams Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Williams Syndrome

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Search CenterWatch for Williams Syndrome

Genetic Tests for Williams Syndrome

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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

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32MalaCards
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MalaCards organs/tissues related to Williams Syndrome:

32
Heart, Eye, Brain, Amygdala, Testes, Cortex, Thyroid, Colon, T cells, Breast, Skeletal muscle, Cerebellum, Kidney, Ovary, Skin, Prefrontal cortex

Animal Models for Williams Syndrome or affiliated genes

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Publications for Williams Syndrome

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50PubMed
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Articles related to Williams Syndrome:

(show top 50)    (show all 823)
idTitleAuthorsYear
1
Stranger danger awareness in Williams syndrome. (23718278)
2013
2
Electrophysiological study of face inversion effects in Williams syndrome. (22677570)
2013
3
Sleep problems and language development in toddlers with Williams syndrome. (24029809)
2013
4
Dissociations in mathematical knowledge: case studies in Down's syndrome and Williams syndrome. (22208902)
2013
5
The Interplay Between Anxiety and Social Functioning in Williams Syndrome. (24197115)
2013
6
Perceptual learning in Williams syndrome: looking beyond averages. (22792262)
2012
7
Orofacial findings and dental management of Williams-Beuren syndrome. (23019840)
2012
8
Oxytocin and vasopressin are dysregulated in Williams Syndrome, a genetic disorder affecting social behavior. (22719898)
2012
9
A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome. (23118870)
2012
10
Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers. (21808859)
2011
11
Frequency of the 7q11.23 inversion polymorphism in transmitting parents of children with Williams syndrome and in the general population does not differ between North America and Europe. (21356100)
2011
12
Attentional disengagement in adults with Williams syndrome. (21885176)
2011
13
Williams syndrome is an epigenome-regulator disease. (21242649)
2011
14
Electrophysiological correlates of semantic processing in Williams syndrome. (20674263)
2010
15
Grammatical gender vs. natural gender in French Williams syndrome. (20691569)
2010
16
Intelligence in Williams Syndrome is related to STX1A, which encodes a component of the presynaptic SNARE complex. (20422020)
2010
17
Auditory function and hearing loss in children and adults with Williams syndrome: cochlear impairment in individuals with otherwise normal hearing. (20425785)
2010
18
An unusual attraction to the eyes in Williams-Beuren syndrome: a manipulation of facial affect while measuring face scanpaths. (20432078)
2010
19
Sudden cardiac death under anesthesia in pediatric patient with Williams syndrome: a case report and review of literature. (20075535)
2010
20
Atypical hemispheric asymmetry in the perception of negative human vocalizations in individuals with Williams syndrome. (20005238)
2010
21
Williams-Beuren syndrome--stretching to learn big lessons from small patients. (19934077)
2010
22
Management of supravalvar aortic stenosis and severely depressed left ventricular function in a neonate with Williams syndrome. (19237291)
2009
23
Inefficient search of large-scale space in Williams syndrome: further insights on the role of LIMK1 deletion in deficits of spatial cognition. (19662944)
2009
24
Cognitive functioning in Williams syndrome: a study in Portuguese and Spanish patients. (18708293)
2009
25
Looking at movies and cartoons: eye-tracking evidence from Williams syndrome and autism. (19192099)
2009
26
Brain structural differences associated with the behavioural phenotype in children with Williams syndrome. (19118537)
2009
27
Genetic influences on sociability: heightened amygdala reactivity and event-related responses to positive social stimuli in Williams syndrome. (19176822)
2009
28
Atypical unfamiliar face processing in Williams syndrome: what can it tell us about typical familiarity effects? (18092225)
2008
29
Small and large number processing in infants and toddlers with Williams syndrome. (18801117)
2008
30
Strategies and biases in location memory in Williams syndrome. (17826031)
2008
31
Social relevance boosts context processing in Williams syndrome. (18568904)
2008
32
Callosal morphology in Williams syndrome: a new evaluation of shape and thickness. (17314657)
2007
33
Conversational success in Williams syndrome: communication in the face of cognitive and linguistic limitations. (17056489)
2006
34
Death following tonsillectomy in a child with Williams syndrome. (16406078)
2006
35
Saccade adaptation in Williams-Beuren Syndrome. (16565380)
2006
36
Clinical report: a case of Williams Syndrome and Klinefelter Syndrome. (17219004)
2006
37
Genetic contributions to human gyrification: sulcal morphometry in Williams syndrome. (16120786)
2005
38
Exploring the Williams syndrome face-processing debate: the importance of building developmental trajectories. (15335346)
2004
39
Risk of sudden death in the Williams-Beuren syndrome. (15150772)
2004
40
Dysphagia: an unusual presentation of giant aneurysm of the right coronary artery and supravalvular aortic stenosis in Williams syndrome. (15573082)
2004
41
Williams syndrome. A summary of cognitive, electrophysiological, anatomofunctional, microanatomical and genetic findings]. (12599114)
2003
42
Portal hypertension in Williams syndrome: report of two patients. (12687671)
2003
43
The role of a Williams-Beuren syndrome-associated helix-loop-helix domain-containing transcription factor in activin/nodal signaling. (11937490)
2002
44
Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome. (12016585)
2002
45
Divergent human and mouse orthologs of a novel gene (WBSCR15/Wbscr15) reside within the genomic interval commonly deleted in Williams syndrome. (11124535)
2000
46
A duplicated gene in the breakpoint regions of the 7q11.23 Williams- Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. (9466987)
1998
47
Magnetic resonance imaging of the brain in Williams-Beuren syndrome. (9028469)
1997
48
Pseudohypertension in a child with Williams syndrome. (8469630)
1993
49
William-Beuren syndrome: description of a case]. (1788114)
1991
50
The Williams-Beuren syndrome: case report and literature review. (3077567)
1988

Genetic Variations for Williams Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Williams Syndrome:

62
id Symbol AA change Variation ID SNP ID
1CYP24A1p.Leu409SerVAR_048466rs6068812
2CYP24A1p.Arg159GlnVAR_066409
3CYP24A1p.Glu322LysVAR_066410
4CYP24A1p.Arg396TrpVAR_066411rs114368325

Expression for genes affiliated with Williams Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Williams Syndrome

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Pathways for genes affiliated with Williams Syndrome

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Compounds for genes affiliated with Williams Syndrome

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44Novoseek, 28IUPHAR, 59Tocris Bioscience, 2BitterDB, 11DrugBank, 24HMDB, 49PharmGKB
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Compounds related to Williams Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vitamin d449.2ELN, CYP24A1
2genistein44 28 59 2 11 2414.2ELN, CYP24A1
3cycloheximide449.1ELN, CYP24A1
4retinoic acid44 2410.1ELN, CYP24A1
5dexamethasone44 49 28 1112.0CYP24A1, ELN
6estrogen448.8ELN, CYP24A1

GO Terms for genes affiliated with Williams Syndrome

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Products for genes affiliated with Williams Syndrome

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Sources for Williams Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet