WBS
MCID: WLL001
MIFTS: 62

Williams-Beuren Syndrome (WBS)

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Williams-Beuren Syndrome

MalaCards integrated aliases for Williams-Beuren Syndrome:

Name: Williams-Beuren Syndrome 56 12 24 52 25 58 36 13 15 37
Williams Syndrome 56 74 24 52 25 53 58 29 54 6 43 39 71
Wbs 56 52 25
Wms 56 52 25
Infantile Hypercalcemia 25 6
Deletion 7q11.23 52 58
Monosomy 7q11.23 52 58
Chromosome 7q11.23 Deletion Syndrome, 1.5- to 1.8-Mb 56
Hypercalcemia-Supravalvar Aortic Stenosis 25
Supravalvar Aortic Stenosis Syndrome 25
Elfin Facies with Hypercalcemia 25
Fanconi Schlesinger Syndrome 12
Williams Syndrome; Wms; Ws 56
Syndrome, Williams-Beuren 39
Elfin Facies Syndrome 25
Beuren Syndrome 25
Ws 25

Characteristics:

Orphanet epidemiological data:

58
williams syndrome
Inheritance: Not applicable; Prevalence: 1-5/10000 (Worldwide),1-9/100000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
incidence 1 in 8,000 live births
main aspects of phenotype attributed to defects in gtf2ird1 and gtf2i


HPO:

31
williams-beuren syndrome:
Clinical modifier death in early adulthood sudden death
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance is 100%; expression of the phenotypic features is variable.

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare circulatory system diseases
Rare cardiac malformations
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:1928
OMIM 56 194050
KEGG 36 H01439
MeSH 43 D018980
NCIt 49 C85232
SNOMED-CT 67 63247009
MESH via Orphanet 44 D018980
ICD10 via Orphanet 33 Q93.8
UMLS via Orphanet 72 C0175702
Orphanet 58 ORPHA904
MedGen 41 C0175702
SNOMED-CT via HPO 68 109245003 111266001 11375002 more
UMLS 71 C0175702

Summaries for Williams-Beuren Syndrome

NINDS : 53 Williams Syndrome (WS) is a rare genetic disorder characterized by mild to moderate delays in cognitive development 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-Beuren Syndrome, also known as williams syndrome, is related to supravalvular aortic stenosis and aortic valve disease 2, and has symptoms including chronic constipation, hyperacusis and abnormal weight gain. An important gene associated with Williams-Beuren Syndrome is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C). The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and brain, and related phenotypes are intellectual disability and hyperreflexia

Genetics Home Reference : 25 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. People with Williams syndrome typically have difficulty with visual-spatial tasks such as drawing and assembling puzzles, but they tend to do well on tasks that involve spoken language, music, and learning by repetition (rote memorization). Affected individuals have outgoing, engaging personalities and tend to take an extreme interest in other people. Attention deficit disorder (ADD), problems with anxiety, and phobias are common among people with this disorder. Young children with Williams syndrome have distinctive facial features including a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips. Many affected people have dental problems such as teeth that are small, widely spaced, crooked, or missing. In older children and adults, the face appears longer and more gaunt. A form of cardiovascular disease called supravalvular aortic stenosis (SVAS) occurs frequently in people with Williams syndrome. Supravalvular aortic stenosis is a narrowing of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). If this condition is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and heart failure. Other problems with the heart and blood vessels, including high blood pressure (hypertension), have also been reported in people with Williams syndrome. Additional signs and symptoms of Williams syndrome include abnormalities of connective tissue (tissue that supports the body's joints and organs) such as joint problems and soft, loose skin. Affected people may also have increased calcium levels in the blood (hypercalcemia) in infancy, developmental delays, problems with coordination, and short stature. Medical problems involving the eyes and vision, the digestive tract, and the urinary system are also possible.

NIH Rare Diseases : 52 Williams syndrome is a genetic condition that affects many parts of the body. Signs and symptoms include mild to moderate intellectual disability ; unique personality traits ; distinctive facial features; and heart and blood vessel problems. Williams syndrome is caused by a person missing more than 25 genes from a specific area of chromosome 7 (a "deletion "). The loss of these genes contributes to the characteristic features. Although Williams syndrome is an autosomal dominant condition, most cases are not inherited and occur sporadically in people with no family history of Williams syndrome. Treatments are based on each person's signs and symptoms, as there is no cure at this time.

OMIM : 56 Williams-Beuren syndrome is a multisystem disorder caused by hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23, which contains approximately 28 genes. Pober (2010) reviewed the clinical features of Williams-Beuren syndrome as well as the genomic and genetic basis and clinical management. See also the distal chromosome 7q11.23 deletion syndrome (613729), which occurs between the WBS region and the MAGI2 gene (606382). (194050)

KEGG : 36 Williams-Beuren syndrome (WBS) is a rare autosomal dominant multisystem disorder associated with the hemizygous deletion of a number of genes on chromosome 7q11.23. The range of phenotypes may include congenital vascular and heart disease, characteristic facial features, premature aging, generally mild mental retardation, short stature, myopathy, hypercalcemia, and a unique cognitive profile. To date at least 28 genes have been identified within the deleted region.

Wikipedia : 74 Williams syndrome (WS) is a genetic disorder that affects many parts of the body. Facial features... more...

GeneReviews: NBK1249

Related Diseases for Williams-Beuren Syndrome

Diseases related to Williams-Beuren Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 545)
# Related Disease Score Top Affiliating Genes
1 supravalvular aortic stenosis 33.7 LIMK1 GTF2IRD1 GTF2I FKBP6 ELN CLIP2
2 aortic valve disease 2 30.9 GTF2IRD1 GTF2I ELN
3 lymphoplasmacytic lymphoma 12.3
4 zori stalker williams syndrome 12.3
5 werner syndrome 12.2
6 waardenburg syndrome, type 2e 12.0
7 waardenburg's syndrome 12.0
8 weill-marchesani syndrome 12.0
9 7q11.23 duplication syndrome 11.9
10 pectus excavatum, macrocephaly, short stature, and dysplastic nails 11.8
11 hypercalcemia, infantile, 2 11.7
12 phosphoserine phosphatase deficiency 11.6
13 waardenburg syndrome, type 3 11.6
14 waardenburg syndrome, type 4c 11.6
15 tibia, hypoplasia or aplasia of, with polydactyly 11.5
16 atypical werner syndrome 11.5
17 macroglobulinemia, waldenstrom 1 11.5
18 cerebellar hypoplasia 11.5
19 waardenburg syndrome, type 2a 11.5
20 weaver syndrome 11.4
21 beckwith-wiedemann syndrome 11.4
22 waardenburg syndrome, type 2b 11.3
23 waardenburg syndrome, type 2c 11.3
24 waardenburg syndrome, type 2d 11.3
25 waardenburg syndrome, type 4b 11.3
26 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 11.2
27 weill-marchesani syndrome 2 11.2
28 weill-marchesani syndrome 3 11.2
29 hairy elbows 11.2
30 waardenburg syndrome, type 4a 11.1
31 alzheimer disease 10.9
32 chromophobe renal cell carcinoma 10.9
33 renal oncocytoma 10.9
34 alacrima, achalasia, and mental retardation syndrome 10.8
35 autism 10.6
36 peripheral pulmonary stenosis 10.6
37 macroglobulinemia 10.6
38 autism spectrum disorder 10.6
39 helix syndrome 10.5
40 nephrocalcinosis 10.5
41 hypothyroidism 10.5
42 heart septal defect 10.5
43 chromosomal deletion syndrome 10.5 NSUN5 GTF2IRD2B GTF2IRD2 GTF2IRD1 GTF2I ELN
44 down syndrome 10.5
45 west syndrome 10.5
46 ventricular septal defect 10.5
47 growth hormone deficiency 10.5
48 strabismus 10.5
49 celiac disease 1 10.5
50 orthostatic intolerance 10.5

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



Diseases related to Williams-Beuren Syndrome

Symptoms & Phenotypes for Williams-Beuren Syndrome

Human phenotypes related to Williams-Beuren Syndrome:

58 31 (show top 50) (show all 238)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Very frequent (99-80%) HP:0001249
2 hyperreflexia 58 31 frequent (33%) Very frequent (99-80%) HP:0001347
3 depressivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000716
4 tremor 58 31 hallmark (90%) Very frequent (99-80%) HP:0001337
5 macroglossia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000158
6 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
7 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
8 open bite 58 31 hallmark (90%) Very frequent (99-80%) HP:0010807
9 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
10 short nose 58 31 frequent (33%) Very frequent (99-80%) HP:0003196
11 short stature 58 31 frequent (33%) Very frequent (99-80%) HP:0004322
12 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
13 long philtrum 58 31 frequent (33%) Very frequent (99-80%) HP:0000343
14 abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002027
15 protruding ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000411
16 thick lower lip vermilion 58 31 frequent (33%) Very frequent (99-80%) HP:0000179
17 epicanthus 58 31 frequent (33%) Very frequent (99-80%) HP:0000286
18 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
19 anxiety 58 31 very rare (1%) Very frequent (99-80%) HP:0000739
20 failure to thrive in infancy 58 31 very rare (1%) Very frequent (99-80%) HP:0001531
21 gait imbalance 58 31 frequent (33%) Very frequent (99-80%) HP:0002141
22 dysmetria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001310
23 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
24 wide mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000154
25 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
26 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
27 narrow face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000275
28 hypercalcemia 58 31 very rare (1%) Very frequent (99-80%) HP:0003072
29 dysgraphia 58 31 hallmark (90%) Very frequent (99-80%) HP:0010526
30 hoarse voice 58 31 frequent (33%) Very frequent (99-80%) HP:0001609
31 pointed chin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000307
32 abnormality of the neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000464
33 blepharophimosis 58 31 frequent (33%) Very frequent (99-80%) HP:0000581
34 abnormality of extrapyramidal motor function 58 31 hallmark (90%) Very frequent (99-80%) HP:0002071
35 phonophobia 58 31 frequent (33%) Very frequent (99-80%) HP:0002183
36 abnormality of pelvic girdle bone morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002644
37 elfin facies 58 31 hallmark (90%) Very frequent (99-80%) HP:0004428
38 high hypermetropia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008499
39 hyperacusis 58 31 frequent (33%) Very frequent (99-80%) HP:0010780
40 overfriendliness 58 31 hallmark (90%) Very frequent (99-80%) HP:0100025
41 periorbital edema 58 31 hallmark (90%) Very frequent (99-80%) HP:0100539
42 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
43 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
44 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
45 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
46 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
47 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
48 osteopenia 58 31 frequent (33%) Occasional (29-5%) HP:0000938
49 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
50 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307

Symptoms via clinical synopsis from OMIM:

56
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Skeletal:
osteopenia
osteoporosis
joint laxity
joint contractures

Abdomen External Features:
inguinal hernia

Cardiovascular Heart:
ventricular septal defect
atrial septal defect
bicuspid aortic valve
mitral valve prolapse
mitral regurgitation
more
Abdomen Gastrointestinal:
gastroesophageal reflux
chronic constipation
diverticulosis
colic
difficulty feeding
more
Head And Neck Face:
long philtrum
flat midface
epicanthal folds
medial eyebrow flare
periorbital fullness (puffy eyes)

Head And Neck Teeth:
microdontia
hypodontia

Neurologic Behavioral Psychiatric Manifestations:
anxiety
obsessive-compulsive traits
attention deficit disorder
friendly personality
gregarious
more
Skeletal Spine:
kyphoscoliosis

Cardiovascular Vascular:
peripheral pulmonary artery stenosis
systemic hypertension

Neurologic Central Nervous System:
poor coordination
hypotonia
poor balance
mental retardation (average iq 56)
relative sparing of language
more
Growth Weight:
abnormal weight gain

Head And Neck Mouth:
thick lips

Growth Other:
intrauterine growth retardation (iugr)

Voice:
harsh, brassy, or hoarse voice

Endocrine Features:
diabetes mellitus
glucose intolerance
hypercalcemia
early-onset puberty (menarche about 2 years early)
hypothyroidism, subclinical

Head And Neck Nose:
depressed nasal bridge
anteverted nares

Growth Height:
short stature

Skeletal Feet:
hallux valgus

Genitourinary Kidneys:
renal insufficiency
nephrocalcinosis
pelvic kidney
renal artery stenosis
small kidneys
more
Head And Neck Eyes:
strabismus
stellate pattern of iris
altered visual acuity

Genitourinary Bladder:
recurrent urinary tract infections
urethral stenosis
enuresis
bladder diverticula
voiding frequency/urgency
more
Respiratory Larynx:
vocal cord paralysis

Genitourinary Ureters:
vesicoureteral reflux

Head And Neck Ears:
phonophobia
hyperacusis
sensorineural hearing loss, mild to moderate
abnormal brain auditory evoked responses (baer)
decreased or absent ipsilateral acoustic reflex response to maximum stimulation

Skin Nails Hair Skin:
soft skin
decreased skin stiffness
easier stretching
increased wrinkles
abnormal scarring
more
Skin Nails Hair Nails:
hypoplastic nails

Skin Nails Hair Hair:
premature graying

Skeletal Limbs:
joint limitation

Laboratory Abnormalities:
hemizygous deletion at 7q11.23

Clinical features from OMIM:

194050

UMLS symptoms related to Williams-Beuren Syndrome:


chronic constipation, hyperacusis, abnormal weight gain

GenomeRNAi Phenotypes related to Williams-Beuren Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.33 BAZ1B MLXIPL TBL2
2 Increased Nanog expression GR00371-A-2 9.17 BAZ1B
3 Increased Nanog expression GR00371-A-3 9.17 RFC2
4 Increased Nanog expression GR00371-A-4 9.17 BAZ1B
5 Increased Nanog expression GR00371-A-5 9.17 BAZ1B CDKN1C GTF2IRD2B RFC2
6 Increased LDL uptake GR00340-A-1 8.96 BUD23 TBL2

Drugs & Therapeutics for Williams-Beuren Syndrome

Drugs for Williams-Beuren Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
4 Neurotransmitter Agents Phase 4
5 Antipsychotic Agents Phase 4
6 Central Nervous System Depressants Phase 4
7 Tranquilizing Agents Phase 4
8 Dopamine Agents Phase 4
9 Central Nervous System Stimulants Phase 4
10 Dopamine Antagonists Phase 4
11 Dopamine Uptake Inhibitors Phase 4
12 Serotonin Agents Phase 4
13 Psychotropic Drugs Phase 4
14 Serotonin Antagonists Phase 4
15
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
16
Minoxidil Approved, Investigational Phase 2 38304-91-5 4201
17
Rifampicin Approved Phase 2 13292-46-1 5458213 5381226
18
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
19
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
20
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 6221 5280795
21
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
22 Antihypertensive Agents Phase 2
23 Vasodilator Agents Phase 2
24 Hormones Phase 2
25 Micronutrients Phase 2
26 Vitamins Phase 2
27 Trace Elements Phase 2
28 Nutrients Phase 2
29 Vitamin D2 Phase 2
30 Ergocalciferols Phase 2
31 Calciferol Phase 2
32 Pharmaceutical Solutions Phase 2
33 Antitubercular Agents Phase 2
34 Cytochrome P-450 CYP3A Inducers Phase 2
35 Anti-Infective Agents Phase 2
36 Anti-Bacterial Agents Phase 2
37 Antibiotics, Antitubercular Phase 2
38 Calcium, Dietary Phase 2
39 Hormone Antagonists

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Treatment and Examining the Connection to Developmental and Molecular Factors Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
2 The Efficacy of Minoxidil in Children With Williams-Beuren Syndrome: a Randomized Clinical Trial. Completed NCT00876200 Phase 2 Minoxidil;Placebo
3 Prevention of Post-Cardiac Surgery Vitamin D Deficiency in Children With Congenital Heart Disease: A Pilot Dose Evaluation Randomized Controlled Trial Completed NCT01838447 Phase 2
4 Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Inactivating Mutations in the CYP24A1 Gene Recruiting NCT03301038 Phase 2 Rifampin
5 Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Idiopathic Infantile Hypercalcemia Unknown status NCT03384121 Phase 1 Rifampin 150 mg, 300 mg capsules and 25 mg/mL oral suspension
6 Molecular Investigation, Using Chromosomal Microarray and Whole Exome Sequencing, of Patients Affected by Williams Beuren Syndrome and Autism Spectrum Disorder Completed NCT04095585
7 Developing Treatments to Improve Psychosocial Functioning in Children With Williams Syndrome Part 1: Response Inhibition Training for Children With Williams Syndrome Completed NCT02212314
8 Characterization of Fat Distribution and Glucose Metabolism in Individuals With and Without Williams Syndrome Completed NCT01864304
9 Vitamin D Metabolism and the Williams Syndrome Completed NCT00013962 Vitamin D
10 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
11 Williams Syndrome Skin and Vascular Elasticity Study (WS-SAVE Study) Completed NCT02692846
12 Cognitive and Behavioral Therapy of Anxiety in Williams Syndrome Recruiting NCT03827525
13 Effects of Emotion on Episodic Memory in Typically Developing Children and Children With Williams-Beuren Syndrome Recruiting NCT03688516
14 Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue Bank Recruiting NCT02706639
15 Williams Syndrome SHAAPE STUDY [Strength, Hormones, Activity & Adiposity, DNA Programming, Eating Study] Recruiting NCT03758651
16 Impact of Elastin Mediated Vascular Stiffness on End Organs Recruiting NCT02840448
17 Defining the Brain Phenotype of Children With Williams Syndrome Recruiting NCT01132885
18 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
19 Quantification of Elastin Markers Synthesis in Williams-Beuren Syndrome and 7q11.23 Micro-duplication Syndrome Not yet recruiting NCT04051086

Search NIH Clinical Center for Williams-Beuren Syndrome

Cochrane evidence based reviews: williams syndrome

Genetic Tests for Williams-Beuren Syndrome

Genetic tests related to Williams-Beuren Syndrome:

# Genetic test Affiliating Genes
1 Williams Syndrome 29 ELN MLXIPL

Anatomical Context for Williams-Beuren Syndrome

MalaCards organs/tissues related to Williams-Beuren Syndrome:

40
Heart, Eye, Brain, Skin, Bone, Kidney, Thyroid

Publications for Williams-Beuren Syndrome

Articles related to Williams-Beuren Syndrome:

(show top 50) (show all 2205)
# Title Authors PMID Year
1
Vocal cord abnormalities in Williams syndrome: a further manifestation of elastin deficiency. 54 61 24 56
12784297 2003
2
The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion. 54 61 24 56
8651315 1996
3
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. 54 61 24 56
7693128 1993
4
Duplication of GTF2I results in separation anxiety in mice and humans. 61 24 56
22578324 2012
5
Williams-Beuren syndrome. 61 24 56
20089974 2010
6
Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension. 61 24 56
16532385 2006
7
Hyperacusis in Williams syndrome: characteristics and associated neuroaudiologic abnormalities. 61 24 56
16476938 2006
8
GTF2IRD1 in craniofacial development of humans and mice. 61 24 56
16293761 2005
9
Severe expressive-language delay related to duplication of the Williams-Beuren locus. 61 24 56
16236740 2005
10
Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children. 61 24 56
15933846 2005
11
Multisystem study of 20 older adults with Williams syndrome. 61 24 56
15534874 2004
12
Mutational mechanisms of Williams-Beuren syndrome deletions. 61 24 56
12796854 2003
13
Central precocious puberty in girls with Williams syndrome. 61 24 56
12219071 2002
14
Cardiovascular manifestations in 75 patients with Williams syndrome. 61 24 56
12161592 2002
15
Prevalence estimation of Williams syndrome. 61 24 56
12088082 2002
16
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. 61 24 56
11685205 2001
17
American Academy of Pediatrics: Health care supervision for children with Williams syndrome. 61 24 56
11331709 2001
18
Elevated ambulatory blood pressure in 20 subjects with Williams syndrome. 61 24 56
10232742 1999
19
Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes. 61 24 56
9860302 1998
20
Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin. 61 24 56
9637430 1998
21
Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. 61 24 56
8968740 1996
22
7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. 61 24 56
8808614 1996
23
Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. 61 24 56
8812460 1996
24
LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. 61 24 56
8689688 1996
25
Williams syndrome: autosomal dominant inheritance. 61 24 56
8256809 1993
26
The Williams syndrome: evidence for possible autosomal dominant inheritance. 61 24 56
8256806 1993
27
Renal findings in 40 individuals with Williams syndrome. 61 24 56
8488870 1993
28
Natural history of Williams syndrome: physical characteristics. 61 24 56
2456379 1988
29
Idiopathic infantile hypercalcaemia--a continuing enigma. 61 24 56
6465928 1984
30
The Williams syndrome: objective definition and diagnosis. 61 24 56
6723102 1984
31
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. 24 56
18565486 2008
32
Functional, structural, and metabolic abnormalities of the hippocampal formation in Williams syndrome. 54 61 56
15951840 2005
33
Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6. 54 61 56
15770126 2005
34
Anomalies of the abdominal aorta in Williams-Beuren syndrome--another cause of arterial hypertension. 54 61 56
11760021 2001
35
Skin elastic fibers in Williams syndrome. 54 61 56
10533027 1999
36
Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes. 54 61 56
10874638 1999
37
Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. 54 61 56
8808592 1996
38
Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome. 54 61 56
7557968 1995
39
Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome. 54 61 56
8544187 1995
40
Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. 54 61 56
7611295 1995
41
Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. 24 56
13967885 1962
42
Supravalvular aortic stenosis. 24 56
14007182 1961
43
Structural variants in genes associated with human Williams-Beuren syndrome underlie stereotypical hypersociability in domestic dogs. 61 56
28776031 2017
44
A human neurodevelopmental model for Williams syndrome. 61 56
27509850 2016
45
Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23. 61 56
26166478 2015
46
Skin findings in Williams syndrome. 61 56
24920525 2014
47
The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome. 61 56
22608712 2012
48
Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome. 54 61 24
20425789 2010
49
Williams-Beuren syndrome. 61 56
20393184 2010
50
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient. 61 56
19568270 2010

Variations for Williams-Beuren Syndrome

ClinVar genetic disease variations for Williams-Beuren Syndrome:

6 (show top 50) (show all 73) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 26 genes: ELN GRCh37/hg19 7q11.23(chr7:72721449-73959106)copy number loss Pathogenic 625551 7:72721449-73959106
2 subset of 27 genes: ELN GRCh37/hg19 7q11.23(chr7:72744494-74339044)copy number loss Pathogenic 625629 7:72744494-74339044
3 subset of 46 genes: ELN GRCh37/hg19 7q11.23(chr7:72744494-76038818)copy number loss Pathogenic 625630 7:72744494-76038818
4 subset of 27 genes: ELN GRCh37/hg19 7q11.23(chr7:72700996-74142190)copy number loss Pathogenic 625631 7:72700996-74142190
5 subset of 25 genes: ELN GRCh37/hg19 7q11.23(chr7:72772522-74133319)copy number loss Pathogenic 625632 7:72772522-74133319
6 subset of 25 genes: ELN GRCh37/hg19 7q11.23(chr7:72772522-74133319)copy number loss Pathogenic 523284 7:72772522-74133319
7 CYP24A1 NM_000782.5(CYP24A1):c.604G>C (p.Asp202His)SNV Conflicting interpretations of pathogenicity 338829 rs114579367 20:52786167-52786167 20:54169628-54169628
8 CYP24A1 NM_000782.5(CYP24A1):c.695G>A (p.Gly232Glu)SNV Conflicting interpretations of pathogenicity 338827 rs552660376 20:52782318-52782318 20:54165779-54165779
9 CYP24A1 NM_000782.5(CYP24A1):c.577C>A (p.Leu193Ile)SNV Conflicting interpretations of pathogenicity 338830 rs377696502 20:52786194-52786194 20:54169655-54169655
10 CYP24A1 NM_000782.5(CYP24A1):c.259-5T>CSNV Conflicting interpretations of pathogenicity 338834 rs372360343 20:52789643-52789643 20:54173104-54173104
11 CYP24A1 NM_000782.5(CYP24A1):c.295A>G (p.Met99Val)SNV Uncertain significance 338833 rs886056789 20:52789602-52789602 20:54173063-54173063
12 CYP24A1 NM_000782.5(CYP24A1):c.101C>T (p.Thr34Met)SNV Uncertain significance 338838 rs550482750 20:52790018-52790018 20:54173479-54173479
13 CYP24A1 NM_000782.5(CYP24A1):c.73C>G (p.Pro25Ala)SNV Uncertain significance 338839 rs140851407 20:52790046-52790046 20:54173507-54173507
14 CYP24A1 NM_000782.5(CYP24A1):c.-17C>TSNV Uncertain significance 338840 rs886056790 20:52790135-52790135 20:54173596-54173596
15 ELN NM_000501.4(ELN):c.647G>T (p.Gly216Val)SNV Uncertain significance 213192 rs145612009 7:73462008-73462008 7:74047678-74047678
16 CYP24A1 NM_000782.5(CYP24A1):c.*1095C>GSNV Uncertain significance 338790 rs886056780 20:52770216-52770216 20:54153677-54153677
17 CYP24A1 NM_000782.5(CYP24A1):c.1124C>T (p.Pro375Leu)SNV Uncertain significance 338816 rs189801930 20:52775529-52775529 20:54158990-54158990
18 CYP24A1 NM_000782.5(CYP24A1):c.991-9G>ASNV Uncertain significance 338820 rs886056787 20:52775671-52775671 20:54159132-54159132
19 CYP24A1 NM_000782.5(CYP24A1):c.776T>C (p.Leu259Pro)SNV Uncertain significance 338824 rs373902459 20:52781059-52781059 20:54164520-54164520
20 CYP24A1 NM_000782.5(CYP24A1):c.*748G>ASNV Uncertain significance 338796 rs371011704 20:52770563-52770563 20:54154024-54154024
21 CYP24A1 NM_000782.5(CYP24A1):c.*885T>GSNV Uncertain significance 338793 rs182056037 20:52770426-52770426 20:54153887-54153887
22 CYP24A1 NM_000782.5(CYP24A1):c.*688_*689GT[7]short repeat Uncertain significance 338799 rs147124541 20:52770611-52770612 20:54154072-54154073
23 CYP24A1 NM_000782.5(CYP24A1):c.*51G>ASNV Uncertain significance 338809 rs552552032 20:52771260-52771260 20:54154721-54154721
24 CYP24A1 NM_000782.5(CYP24A1):c.1449C>T (p.Tyr483=)SNV Uncertain significance 338812 rs73135773 20:52773814-52773814 20:54157275-54157275
25 CYP24A1 NM_000782.5(CYP24A1):c.1361C>T (p.Pro454Leu)SNV Uncertain significance 338813 rs886056786 20:52774000-52774000 20:54157461-54157461
26 CYP24A1 NM_000782.5(CYP24A1):c.1207G>A (p.Val403Ile)SNV Uncertain significance 338814 rs373243941 20:52774654-52774654 20:54158115-54158115
27 CYP24A1 NM_000782.5(CYP24A1):c.1020C>T (p.Tyr340=)SNV Uncertain significance 338819 rs77764129 20:52775633-52775633 20:54159094-54159094
28 CYP24A1 NM_000782.5(CYP24A1):c.-307G>TSNV Uncertain significance 338849 rs562743240 20:52790425-52790425 20:54173886-54173886
29 CYP24A1 NM_000782.5(CYP24A1):c.-385G>ASNV Uncertain significance 338850 rs746437890 20:52790503-52790503 20:54173964-54173964
30 CYP24A1 NM_000782.5(CYP24A1):c.*838T>GSNV Uncertain significance 338795 rs886056782 20:52770473-52770473 20:54153934-54153934
31 CYP24A1 NM_000782.5(CYP24A1):c.*1091C>TSNV Uncertain significance 338791 rs531896457 20:52770220-52770220 20:54153681-54153681
32 CYP24A1 NM_000782.5(CYP24A1):c.*1014C>TSNV Uncertain significance 338792 rs886056781 20:52770297-52770297 20:54153758-54153758
33 CYP24A1 NM_000782.5(CYP24A1):c.*518A>GSNV Uncertain significance 338800 rs886056784 20:52770793-52770793 20:54154254-54154254
34 CYP24A1 NM_000782.5(CYP24A1):c.*454G>ASNV Uncertain significance 338801 rs761330571 20:52770857-52770857 20:54154318-54154318
35 CYP24A1 NM_000782.5(CYP24A1):c.1098A>T (p.Pro366=)SNV Uncertain significance 338818 rs764982769 20:52775555-52775555 20:54159016-54159016
36 CYP24A1 NM_000782.5(CYP24A1):c.861C>A (p.Asp287Glu)SNV Uncertain significance 338823 rs886056788 20:52779385-52779385 20:54162846-54162846
37 CYP24A1 NM_000782.5(CYP24A1):c.640+15C>GSNV Uncertain significance 338828 rs117685582 20:52786116-52786116 20:54169577-54169577
38 CYP24A1 NM_000782.5(CYP24A1):c.217A>T (p.Ile73Phe)SNV Uncertain significance 338836 rs201820243 20:52789902-52789902 20:54173363-54173363
39 CYP24A1 NM_000782.5(CYP24A1):c.-37C>ASNV Uncertain significance 338841 rs549112129 20:52790155-52790155 20:54173616-54173616
40 ELN NM_000501.4(ELN):c.1943G>A (p.Gly648Glu)SNV Uncertain significance 423097 rs140085632 7:73477975-73477975 7:74063645-74063645
41 CYP24A1 NM_000782.5(CYP24A1):c.*317T>CSNV Uncertain significance 338804 rs181138149 20:52770994-52770994 20:54154455-54154455
42 CYP24A1 NM_000782.5(CYP24A1):c.*244C>TSNV Uncertain significance 338805 rs546594298 20:52771067-52771067 20:54154528-54154528
43 CYP24A1 NM_000782.5(CYP24A1):c.*80A>GSNV Uncertain significance 338807 rs560443324 20:52771231-52771231 20:54154692-54154692
44 CYP24A1 NM_000782.5(CYP24A1):c.-135C>TSNV Uncertain significance 338846 rs556468258 20:52790253-52790253 20:54173714-54173714
45 CYP24A1 NM_000782.5(CYP24A1):c.-148T>CSNV Uncertain significance 338847 rs866472510 20:52790266-52790266 20:54173727-54173727
46 CYP24A1 NM_000782.5(CYP24A1):c.990+3A>GSNV Uncertain significance 338822 rs762830804 20:52779253-52779253 20:54162714-54162714
47 CYP24A1 NM_000782.5(CYP24A1):c.732+7A>TSNV Uncertain significance 338826 rs532499456 20:52782274-52782274 20:54165735-54165735
48 CYP24A1 NM_000782.5(CYP24A1):c.359G>T (p.Arg120Leu)SNV Uncertain significance 338832 rs114476330 20:52789538-52789538 20:54172999-54172999
49 CYP24A1 NM_000782.5(CYP24A1):c.-50C>TSNV Uncertain significance 338842 rs886056791 20:52790168-52790168 20:54173629-54173629
50 CYP24A1 NM_000782.5(CYP24A1):c.-118T>CSNV Uncertain significance 338845 rs886056792 20:52790236-52790236 20:54173697-54173697

Copy number variations for Williams-Beuren Syndrome from CNVD:

7 (show top 50) (show all 239)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 13411 1 1 2300000 Gain Williams-beuren syndrome
2 13412 1 1 2300000 Gain Williams-beuren syndrome
3 13797 1 1 5300000 Gain Williams-beuren syndrome
4 13801 1 1 5400000 Gain Williams-beuren syndrome
5 13996 1 102395713 102556188 Loss Williams Syndrome
6 14157 1 104304648 104515175 Gain Williams Syndrome
7 14543 1 109401356 109466760 Loss Williams Syndrome
8 15253 1 1138887 1142089 Gain TNFRSF18 Williams-beuren syndrome
9 15317 1 1146705 1149548 Gain TNFRSF4 Williams-beuren syndrome
10 15561 1 1167628 1170420 Gain B3GALT6 Williams-beuren syndrome
11 15729 1 1189291 1209234 Gain UBE2J2 Williams-beuren syndrome
12 16018 1 1215815 1227409 Gain SCNN1D Williams-beuren syndrome
13 16468 1 1243993 1247057 Gain PUSL1 Williams-beuren syndrome
14 16545 1 1270657 1284492 Gain DVL1 Williams-beuren syndrome
15 18022 1 143570846 144923027 Loss Williams Syndrome
16 22133 1 165500000 172900000 Gain Williams-beuren syndrome
17 27994 1 216629257 216789404 Gain Williams Syndrome
18 31345 1 26948697 28023399 Gain Williams Syndrome
19 35459 1 63729851 63837565 Gain Williams Syndrome
20 36123 1 72258884 72374107 Loss Williams Syndrome
21 38006 1 97794409 98009752 Loss Williams Syndrome
22 41071 10 135158836 135264575 Gain Williams Syndrome
23 41073 10 135176625 135238107 Loss Williams Syndrome
24 42487 10 35046074 35120667 Loss Williams Syndrome
25 43354 10 46363383 46557002 Loss Williams Syndrome
26 43356 10 46363383 47162951 Gain Williams Syndrome
27 43409 10 46397572 46557002 Gain Williams Syndrome
28 43595 10 47062478 47143807 Gain Williams Syndrome
29 44547 10 59192085 59403275 Gain Williams Syndrome
30 51993 11 134060736 134367660 Gain Williams Syndrome
31 54256 11 4085062 4133078 Gain Williams Syndrome
32 55322 11 51049446 51318418 Gain Williams Syndrome
33 60009 11 80981836 81131219 Loss Williams Syndrome
34 60231 11 84140727 84214566 Loss Williams Syndrome
35 60239 11 84211479 84214566 Gain Williams Syndrome
36 60240 11 84211479 84233615 Loss Williams Syndrome
37 66646 12 31169298 31282170 Gain Williams Syndrome
38 66664 12 31247316 31279220 Gain Williams Syndrome
39 71581 12 72561457 72795885 Gain Williams Syndrome
40 71587 12 72638877 72801220 Loss Williams Syndrome
41 72370 12 7908745 8033723 Gain Williams Syndrome
42 77325 13 42393686 42675338 Gain Williams Syndrome
43 77329 13 42447586 42632690 Gain Williams Syndrome
44 77340 13 42564370 42586916 Loss Williams Syndrome
45 80396 13 90860332 91099862 Loss Williams Syndrome
46 80407 13 91085865 91089064 Loss Williams Syndrome
47 81917 14 105149735 105170875 Gain Williams Syndrome
48 81932 14 105149735 106356482 Loss Williams Syndrome
49 82595 14 105829129 106250892 Loss Williams Syndrome
50 82679 14 105988336 106044701 Loss Williams Syndrome

Expression for Williams-Beuren Syndrome

Search GEO for disease gene expression data for Williams-Beuren Syndrome.

Pathways for Williams-Beuren Syndrome

GO Terms for Williams-Beuren Syndrome

Biological processes related to Williams-Beuren Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transition between fast and slow fiber GO:0014883 8.62 GTF2IRD2B GTF2IRD2

Sources for Williams-Beuren Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
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48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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