WS
MCID: WLL003
MIFTS: 58

Williams Syndrome (WS) malady

Nephrological diseases, Endocrine diseases, Genetic diseases categories

Summaries for Williams Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 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.

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: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

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:

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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, T cells, Ovary, Skin, Breast, Kidney, Colon, Skeletal muscle, Cerebellum, 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
Cross-modal contextual coherence of information integration in people with Williams syndrome. (24377100)
2013
2
Clinical and neuropsychiatric status in children with Williams-Beuren Syndrome in Upper Egypt. (24309873)
2013
3
Genetic mapping of brain plasticity across development in Williams syndrome: ERP markers of face and language processing. (24219698)
2013
4
Do you have a question for me? How children with Williams syndrome respond to ambiguous referential communication during a joint activity. (22883814)
2013
5
Developmental changes in mental rotation ability and visual perspective-taking in children and adults with Williams syndrome. (24376412)
2013
6
Balance function in patients with Williams syndrome. (23219788)
2013
7
Psycholinguistic abilities of children with Williams syndrome. (22230237)
2012
8
The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome. (22608712)
2012
9
Facial phenotype at different ages and cardiovascular malformations in children with Williams-Beuren syndrome: a study from India. (22628065)
2012
10
Sensitivity of the autonomic nervous system to visual and auditory affect across social and non-social domains in williams syndrome. (23049519)
2012
11
Understanding motor acts and motor intentions in Williams syndrome. (22465861)
2012
12
Continuous cognitive dynamics of the evaluation of trustworthiness in williams syndrome. (22675313)
2012
13
Honing in on the social phenotype in Williams syndrome using multiple measures and multiple raters. (20614173)
2011
14
There's that scary picture: attention bias to threatening scenes in Williams syndrome. (21110991)
2011
15
Induced chromosome deletion in a Williams-Beuren syndrome mouse model causes cardiovascular abnormalities. (20926892)
2011
16
Two cases of diverticulitis in patients with Williams syndrome. (21675623)
2011
17
Characterisation of sleep problems in children with Williams syndrome. (20940094)
2011
18
Definitions versus categorization: assessing the development of lexico-semantic knowledge in Williams syndrome. (21575076)
2011
19
The behavioral phenotype of Williams syndrome: A recognizable pattern of neurodevelopment. (20981771)
2010
20
Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome. (20824207)
2010
21
Williams syndrome in an adult. (20536997)
2010
22
Behavioral and cognitive phenotype of children and adolescents with Williams-Beuren Syndrome. (21103708)
2010
23
Neurological soft signs feature a double dissociation within the language system in Williams syndrome. (20643153)
2010
24
Verbal peaks and visual valleys in theory of mind ability in Williams syndrome. (19039658)
2009
25
Distinct function of 2 chromatin remodeling complexes that share a common subunit, Williams syndrome transcription factor (WSTF). (19470456)
2009
26
Human versus non-human face processing: evidence from Williams syndrome. (19557509)
2009
27
Late onset cerebellar metastasis from oesophageal adenocarcinoma in Williams Syndrome. (18392775)
2008
28
Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome. (18452001)
2008
29
Hyperactive auditory efferent system and lack of acoustic reflexes in Williams syndrome. (19025031)
2008
30
Fibrous hamartoma of infancy in a patient with Williams syndrome. (17326745)
2007
31
Left ventricle myocardial mechanics and textural properties in patients with Williams syndrome. (17443098)
2007
32
Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension. (16532385)
2006
33
Echocardiographic findings in patients with Williams-Beuren syndrome. (17009066)
2006
34
Investigating prosodic ability in Williams syndrome. (17056483)
2006
35
Object recognition with severe spatial deficits in Williams syndrome: sparing and breakdown. (16185678)
2006
36
Characterisation of a non-recurrent familial translocation t(7;9)(q11.23;p24.3) points to a recurrent involvement of the Williams-Beuren syndrome region in chromosomal rearrangements. (16328081)
2006
37
The magnetoencephalographic response to upright and inverted face stimuli in a patient with Williams syndrome. (16648006)
2006
38
Foreshortened dorsal extension of the central sulcus in Williams syndrome. (15871594)
2005
39
Love is... an abstract word: the influence of lexical semantics on verbal short-term memory in Williams syndrome. (15714899)
2005
40
Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report. (16291141)
2005
41
Rapid progression of long-segment coarctation in a patient with Williams' syndrome. (15865838)
2005
42
Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23. (16140988)
2005
43
Severe coronary artery disease in the absence of supravalvular stenosis in a patient with Williams syndrome. (15549615)
2005
44
Neural basis of genetically determined visuospatial construction deficit in Williams syndrome. (15339645)
2004
45
Williams-Beuren syndrome: a model of recurrent genomic mutation. (12638521)
2003
46
Williams syndrome]. (10645654)
1999
47
Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. (8808592)
1996
48
Social-emotional and behavioral adjustment in children with Williams-Beuren syndrome. (7864042)
1994
49
A new and rare form of Williams' syndrome. (8351994)
1993
50
Statural growth in Williams-Beuren syndrome. (1425797)
1992

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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  • Antibodies
  • Proteins
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  • Antibodies

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