WS
MCID: WLL003
MIFTS: 61

Williams Syndrome (WS) malady

Genetic diseases, Rare diseases, Nephrological diseases, Endocrine diseases categories
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Summaries for Williams Syndrome

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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 based summary: Williams Syndrome, also known as williams-beuren syndrome, is related to supravalvular aortic stenosis and hypercalcemia, and has symptoms including 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 heart, eye and brain, and related mouse phenotypes are skeleton and growth/size/body.

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:65 Williams syndrome (WS), also known as Williams?Beuren syndrome (WBS), is a rare neurodevelopmental... more...

Descriptions from OMIM:46 143880,185500

GeneReviews summary for williams

Aliases & Classifications for Williams Syndrome

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Sources:
65Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Williams Syndrome, Aliases & Descriptions:

Name: Williams Syndrome 65 19 42 20 22 21 43 44 62
Williams-Beuren Syndrome 19 42 21 62
Hypercalcemia-Supravalvar Aortic Stenosis 21 62
Supravalvar Aortic Stenosis Syndrome 21 62
Supravalvar Aortic Stenosis 46 62
Infantile Hypercalcemia 21 62
Elfin Facies Syndrome 21 62
Wms 42 21
 
Wbs 42 21
Familial Infantile Hypercalcemia with Suppressed Intact Parathyroid Hormone 48
Autosomal Recessive Infantile Hypercalcemia 48
Elfin Facies with Hypercalcemia 21
Hypercalcemia, Infantile 46
Beuren Syndrome 21
Ws 21


Classifications:



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


External Ids:

OMIM46 143880
ICD10 via Orphanet26 E83.5

Related Diseases for Williams Syndrome

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

(show top 50)    (show all 127)
idRelated DiseaseScoreTop Affiliating Genes
1supravalvular aortic stenosis31.0LIMK1, ELN
2hypercalcemia30.7ELN
3williams-beuren syndrome29.5RFC2, LIMK1, FZD9, ELN, BAZ1B, GTF2IRD1
4down syndrome10.6
5macroglobulinemia10.5
6hyperacusis10.5
7waardenburg syndrome type i10.4
8autistic disorder10.4
9celiac disease10.4
10keratoconus10.4
11neurofibromatosis10.4
12werner syndrome10.4
13autism spectrum disorder10.4
14zori stalker williams syndrome10.4
15waardenburg syndrome type 310.3
16weaver syndrome10.3
17thyroiditis10.3
18waardenburg syndrome type 2a10.3
19waardenburg syndrome type iva10.3
20macroglobulinemia, waldenstrom, somatic10.3
21prader-willi syndrome10.3
22hypothyroidism10.3
23leukemia10.3
24multiple sclerosis10.3
25obesity10.3
26schizophrenia10.3
27sotos syndrome10.3
28ebstein anomaly10.3
29hypertensive encephalopathy10.3
30hypertrophic cardiomyopathy10.3
31achalasia10.3
32glucose intolerance10.3
33myopathy10.3
34developmental disabilities10.3
35caudal regression syndrome10.3
36growth hormone deficiency10.3
37pulmonary function10.3
38essential iris atrophy10.3
39weill-marchesani syndrome10.2
40weill-marchesani syndrome 1, recessive10.2
41fragile x syndrome10.2
42diverticulitis10.2
43nephrocalcinosis10.2
44bile reflux10.1
45waardenburg syndrome type 210.1
46waardenburg syndrome type ivb10.1
47waardenburg syndrome type ivc10.1
48waardenburg syndrome type iid10.1
49waardenburg syndrome, type 2e, with or without neurologic involvement10.1
50waldenstrom macroglobulinemia10.1

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



Diseases related to williams syndrome

Symptoms for Williams Syndrome

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Symptoms by clinical synopsis from OMIM:

143880

Clinical features from OMIM:

143880,185500

HPO human phenotypes related to Williams Syndrome:

(show all 23)
id Description Frequency HPO Source Accession
1 nephrolithiasis rare (5%) HP:0000787
2 autosomal dominant inheritance HP:0000006
3 autosomal recessive inheritance HP:0000007
4 polyuria HP:0000103
5 nephrocalcinosis HP:0000121
6 thick lower lip vermilion HP:0000179
7 abnormality of the eye HP:0000478
8 intellectual disability HP:0001249
9 lethargy HP:0001254
10 failure to thrive HP:0001508
11 pulmonic stenosis HP:0001642
12 aortic valve stenosis HP:0001650
13 weight loss HP:0001824
14 dehydration HP:0001944
15 vomiting HP:0002013
16 hypercalciuria HP:0002150
17 elfin facies HP:0004428
18 infantile hypercalcemia HP:0008250
19 autosomal dominant inheritance HP:0000006
20 pulmonic stenosis HP:0001642
21 supravalvular aortic stenosis HP:0004381
22 pulmonary artery stenosis HP:0004415
23 peripheral arterial stenosis HP:0004928

Drugs & Therapeutics for Williams Syndrome

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Drug clinical trials:

Search ClinicalTrials for Williams Syndrome

Search NIH Clinical Center for Williams Syndrome

Genetic Tests for Williams Syndrome

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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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MalaCards organs/tissues related to Williams Syndrome:

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

Animal Models for Williams Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Williams Syndrome:

36
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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Articles related to Williams Syndrome:

(show top 50)    (show all 594)
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
Differences in Social Vulnerability among Individuals with Autism Spectrum Disorder, Williams Syndrome, and Down Syndrome. (23745132)
2013
16
Developmental and cognitive troubles in Williams syndrome. (23622178)
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
LIMK1 and CLIP-115: linking cytoskeletal defects to Williams syndrome. (14745832)
2004
42
New case of thyroid dysgenesis and clinical signs of hypothyroidism in Williams syndrome. (15108207)
2004
43
Multisystem study of 20 older adults with Williams syndrome. (15534874)
2004
44
Williams syndrome associated with Crohn disease, multiple infections, and chronic granulomatous disease. (15371121)
2004
45
Williams syndrome. A summary of cognitive, electrophysiological, anatomofunctional, microanatomical and genetic findings]. (12599114)
2003
46
Elastin mutation is associated with a reduced gain of the baroreceptor--heart rate reflex in patients with Williams syndrome. (12102453)
2002
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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UniProtKB/Swiss-Prot genetic disease variations for Williams Syndrome:

64
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:

6 (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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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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Sources:
44Novoseek
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Compounds related to Williams Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vitamin d449.3BAZ1B, ELN, CYP24A1

GO Terms for genes affiliated with Williams Syndrome

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet