WS
MCID: WLL003
MIFTS: 60

Williams Syndrome (WS) malady

Genetic diseases, Rare diseases, Nephrological diseases, Endocrine diseases categories

Summaries for Williams Syndrome

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44NIH Rare Diseases, 45NINDS, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NINDS:45 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 supravalvular aortic stenosis and hypercalcemia. An important gene associated with Williams Syndrome is ELN (elastin). The compound vitamin d have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and brain, and related mouse phenotypes are skeleton and growth/size/body.

NIH Rare Diseases:44 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:66 Williams syndrome (WS), also known as Williams?Beuren syndrome (WBS), is a rare neurodevelopmental... more...

Description from OMIM:48 143880,185500

GeneReviews summary for williams

Aliases & Classifications for Williams Syndrome

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66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 45NINDS, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
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 66 20 44 21 23 22 45 46 63
williams-beuren syndrome 20 44 22
infantile hypercalcemia 22 63
wbs 44 22
wms 44 22
familial infantile hypercalcemia with suppressed intact parathyroid hormone 50
autosomal recessive infantile hypercalcemia 50
hypercalcemia-supravalvar aortic stenosis 22
supravalvar aortic stenosis syndrome 22
elfin facies with hypercalcemia 22
supravalvular aortic stenosis 63
supravalvar aortic stenosis 48
hypercalcemia, infantile 48
elfin facies syndrome 22
beuren syndrome 22
ws 22


External Ids:

OMIM48 143880
ICD10 via Orphanet27 E83.5

Related Diseases for Williams Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Williams Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 124)
idRelated DiseaseScoreTop Affiliating Genes
1supravalvular aortic stenosis30.9LIMK1, ELN
2hypercalcemia30.4ELN
3williams-beuren syndrome30.1RFC2, LIMK1, FZD9, ELN, BAZ1B, GTF2IRD1
4down syndrome10.5
5macroglobulinemia10.5
6hyperacusis10.4
7waardenburg syndrome type i10.4
8neurofibromatosis10.4
9autistic disorder10.4
10keratoconus10.4
11werner syndrome10.4
12zori stalker williams syndrome10.4
13autism spectrum disorder10.4
14waardenburg syndrome type 310.3
15weaver syndrome10.3
16thyroiditis10.3
17waardenburg syndrome type 2a10.3
18waardenburg syndrome type iva10.3
19macroglobulinemia, waldenstrom, somatic10.3
20prader-willi syndrome10.3
21hypothyroidism10.3
22hypertensive encephalopathy10.3
23celiac disease10.3
24glucose intolerance10.3
25hypertrophic cardiomyopathy10.3
26sotos syndrome10.3
27ebstein anomaly10.3
28leukemia10.3
29multiple sclerosis10.3
30myopathy10.3
31obesity10.3
32schizophrenia10.3
33developmental disabilities10.3
34caudal regression syndrome10.3
35growth hormone deficiency10.3
36pulmonary function10.3
37essential iris atrophy10.3
38weill-marchesani syndrome10.2
39weill-marchesani syndrome 1, recessive10.2
40fragile x syndrome10.2
41diverticulitis10.2
42nephrocalcinosis10.2
43bile reflux10.1
44waardenburg syndrome type 210.1
45waardenburg syndrome type ivb10.1
46waardenburg syndrome type ivc10.1
47waardenburg syndrome type iid10.1
48waardenburg syndrome, type 2e, with or without neurologic involvement10.1
49waldenstrom macroglobulinemia10.1
50attention deficit hyperactivity disorder10.1

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



Diseases related to williams syndrome

Symptoms for Williams Syndrome

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48OMIM
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Symptoms by clinical synopsis from OMIM:

143880

Clinical features from OMIM:

143880,185500

Drugs & Therapeutics for Williams Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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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

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21GeneTests, 23GTR
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Genetic tests related to Williams Syndrome:

id Genetic test Affiliating Genes
1 Williams Syndrome21 23 ELN

Anatomical Context for Williams Syndrome

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34MalaCards
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MalaCards organs/tissues related to Williams Syndrome:

34
Eye, Heart, Brain, Amygdala, Testes, Cortex, Thyroid, Cerebellum, Skeletal muscle, Skin, Ovary, Colon, Prefrontal cortex

Animal Models for Williams Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Williams Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053907.9GTF2IRD1, BAZ1B, ELN, FZD9, CLIP2, CYP24A1
2MP:00053787.8GTF2IRD1, BAZ1B, STX1A, FZD9, CLIP2, CYP24A1
3MP:00053867.5CLIP2, LIMK1, FZD9, STX1A, BAZ1B, GTF2IRD1

Publications for Williams Syndrome

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53PubMed
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Articles related to Williams Syndrome:

(show top 50)    (show all 571)
idTitleAuthorsYear
1
Familiarity and recollection in Williams syndrome. (21774924)
2013
2
Neural correlates of visual integration in Williams syndrome: gamma oscillation patterns in a model of impaired coherence. (23587664)
2013
3
Cross syndrome comparison of sleep problems in children with Down syndrome and Williams syndrome. (23475007)
2013
4
Cross-modal contextual coherence of information integration in people with Williams syndrome. (24377100)
2013
5
Brief report: exploring the relationship between sensory processing and repetitive behaviours in Williams Syndrome. (22677930)
2013
6
Cortisol reactivity and performance abilities in social situations in adults with Williams syndrome. (24245731)
2013
7
Prevalence of diabetes and pre-diabetes in a cohort of Italian young adults with Williams syndrome. (23495209)
2013
8
Stranger danger awareness in Williams syndrome. (23718278)
2013
9
Spontaneous and cued gaze-following in autism and Williams syndrome. (23663405)
2013
10
Magnitude representations in Williams syndrome: differential acuity in time, space and number processing. (24013906)
2013
11
Contextual integration of causal coherence in people with Williams syndrome. (23911543)
2013
12
Electrophysiological study of face inversion effects in Williams syndrome. (22677570)
2013
13
Musicality Correlates With Sociability and Emotionality in Williams Syndrome. (24151530)
2013
14
What does Williams syndrome reveal about the determinants of social behavior? (23825455)
2013
15
Developmental and cognitive troubles in Williams syndrome. (23622178)
2013
16
Single-stage surgical repair of a complex pathology in Williams syndrome. (23394113)
2013
17
Preliminary evidence of abnormal white matter related to the fusiform gyrus in Williams syndrome: a diffusion tensor imaging tractography study. (21939500)
2012
18
Perspectives on the dynamic development of cognitive capacities: insights from Williams syndrome. (22322417)
2012
19
Contextual effect in people with Williams syndrome. (21123029)
2011
20
Language and sociability: insights from Williams syndrome. (21671048)
2011
21
Honing in on the social phenotype in Williams syndrome using multiple measures and multiple raters. (20614173)
2011
22
Executive functions in individuals with Williams syndrome. (20537048)
2010
23
Mental health problems in adults with Williams syndrome. (20025356)
2010
24
Incidence of diverticular disease and complicated diverticular disease in young patients with Williams syndrome. (20652262)
2010
25
The development of metaphorical language comprehension in typical development and in Williams syndrome. (20236654)
2010
26
Approachability in Williams syndrome. (20035775)
2010
27
Management of supravalvar aortic stenosis and severely depressed left ventricular function in a neonate with Williams syndrome. (19237291)
2009
28
Verbal peaks and visual valleys in theory of mind ability in Williams syndrome. (19039658)
2009
29
Sudden unexpected death in a toddler with Williams syndrome. (19291445)
2008
30
Williams syndrome in a preterm infant with phenotype of Alagille syndrome. (18688871)
2008
31
E-page Original Images. The imaging of the aortic fibrous membrane associated with Williams syndrome. (18400621)
2008
32
Congenital long-QT syndrome concealed by hypercalcemia in Williams Syndrome. (18662176)
2008
33
Comprehension of spatial language in Williams syndrome: evidence for impaired spatial representation of verbal descriptions. (17701756)
2007
34
Three live-birth pregnancies in a woman with Williams syndrome. (18377492)
2007
35
Nature and nurture: Williams syndrome across cultures. (17973792)
2007
36
Fibrous hamartoma of infancy in a patient with Williams syndrome. (17326745)
2007
37
Perceiving facial and vocal expressions of emotion in individuals with Williams syndrome. (16332153)
2006
38
Increased local gyrification mapped in Williams syndrome. (16901723)
2006
39
Sensorineural hearing loss in children and adults with Williams syndrome. (16222677)
2005
40
Burkitt lymphoma and Williams syndrome: a model for children with a multisystem disorder and malignancy. (15701989)
2005
41
Knowledge of constraints on compounding in children and adolescents with Williams syndrome. (15938061)
2005
42
LIMK1 and CLIP-115: linking cytoskeletal defects to Williams syndrome. (14745832)
2004
43
New case of thyroid dysgenesis and clinical signs of hypothyroidism in Williams syndrome. (15108207)
2004
44
Multisystem study of 20 older adults with Williams syndrome. (15534874)
2004
45
Williams syndrome associated with Crohn disease, multiple infections, and chronic granulomatous disease. (15371121)
2004
46
Williams syndrome. A summary of cognitive, electrophysiological, anatomofunctional, microanatomical and genetic findings]. (12599114)
2003
47
Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23. (11003705)
2000
48
Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes. (9860302)
1998
49
Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin. (9637430)
1998
50
Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome. (9311751)
1997

Variations for Williams Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Williams Syndrome:

65
id Symbol AA change Variation ID SNP ID
1CYP24A1p.Leu409SerVAR_048466rs6068812
2CYP24A1p.Arg159GlnVAR_066409
3CYP24A1p.Glu322LysVAR_066410
4CYP24A1p.Arg396TrpVAR_066411rs114368325

Clinvar genetic disease variations for Williams Syndrome:

1 (show all 19)
id Gene Name Type Significance SNP ID Assembly Location
1ELNELN, 100-KB DELdeletionPathogenic
2ELNELN, 30-KB DELdeletionPathogenic
3ELNELN, IVS15AS, A-G, -2single nucleotide variantPathogenic
4ELNNM_000501.3(ELN): c.1324C> T (p.Gln442Ter)single nucleotide variantPathogenicrs137854452GRCh37Chr 7, 73471010: 73471010
5ELNNM_000501.3(ELN): c.1621C> T (p.Arg541Ter)single nucleotide variantPathogenicrs137854453GRCh37Chr 7, 73474514: 73474514
6ELNELN, 1-BP DEL, 1821CdeletionPathogenic
7ELNELN, 1-BP INS, FS615TERinsertionPathogenic
8ELNELN, IVS15AS, C-G, -3single nucleotide variantPathogenic
9ELNELN, 1-BP DEL, 1040CdeletionPathogenic
10ELNNM_000501.3(ELN): c.450C> G (p.Tyr150Ter)single nucleotide variantPathogenicrs137854454GRCh37Chr 7, 73458231: 73458231
11ELNNM_000501.3(ELN): c.526A> T (p.Lys176Ter)single nucleotide variantPathogenicrs137854455GRCh37Chr 7, 73459608: 73459608
12ELNELN, ARG610GLN AND 24-BP DUP, NT1034duplicationPathogenic
13CYP24A1CYP24A1, 2-BP DEL, 1425TCdeletionPathogenic
14CYP24A1NM_000782.4(CYP24A1): c.476G> A (p.Arg159Gln)single nucleotide variantPathogenicrs387907322GRCh37Chr 20, 52788183: 52788183
15CYP24A1CYP24A1, 3-BP DEL, 427GAAdeletionPathogenic
16CYP24A1NM_000782.4(CYP24A1): c.451G> T (p.Glu151Ter)single nucleotide variantPathogenicrs387907323GRCh37Chr 20, 52788208: 52788208
17CYP24A1NM_000782.4(CYP24A1): c.1186C> T (p.Arg396Trp)single nucleotide variantPathogenicrs114368325GRCh37Chr 20, 52774675: 52774675
18CYP24A1NM_000782.4(CYP24A1): c.1226T> C (p.Leu409Ser)single nucleotide variantPathogenicrs6068812GRCh37Chr 20, 52774635: 52774635
19CYP24A1NM_000782.4(CYP24A1): c.964G> A (p.Glu322Lys)single nucleotide variantPathogenicrs387907324GRCh37Chr 20, 52779282: 52779282

Expression for genes affiliated with Williams Syndrome

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2BioGPS, 16Gene 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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46Novoseek
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Compounds related to Williams Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vitamin d469.3BAZ1B, ELN, CYP24A1

GO Terms for genes affiliated with Williams Syndrome

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17Gene Ontology
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Cellular components related to Williams Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuron projectionGO:0430059.4STX1A, PSPH, LIMK1

Molecular functions related to Williams Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein heterodimerization activityGO:0469829.4STX1A, FZD9, LIMK1

Products for genes affiliated with Williams Syndrome

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Sources for Williams Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet