MCID: WLL001
MIFTS: 63

Williams-Beuren Syndrome

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

Aliases & Classifications for Williams-Beuren Syndrome

MalaCards integrated aliases for Williams-Beuren Syndrome:

Name: Williams-Beuren Syndrome 53 12 23 49 24 55 36 13 14 37
Williams Syndrome 53 72 23 49 24 50 55 28 51 41 69
Wbs 53 49 24
Wms 53 49 24
Deletion 7q11.23 49 55
Monosomy 7q11.23 49 55
Chromosome 7q11.23 Deletion Syndrome, 1.5- to 1.8-Mb 53
Hypercalcemia-Supravalvar Aortic Stenosis 24
Supravalvar Aortic Stenosis Syndrome 24
Elfin Facies with Hypercalcemia 24
Fanconi Schlesinger Syndrome 12
Williams Syndrome; Wms; Ws 53
Infantile Hypercalcemia 24
Elfin Facies Syndrome 24
Beuren Syndrome 24
Ws 24

Characteristics:

Orphanet epidemiological data:

55
williams syndrome
Inheritance: Not applicable; Prevalence: 1-5/10000 (Worldwide),1-9/100000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

53
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:
Mortality/Aging death in early adulthood sudden death
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance is 100%; expression of the phenotypic features is variable...

Classifications:



External Ids:

OMIM 53 194050
Disease Ontology 12 DOID:1928
MeSH 41 D018980
NCIt 46 C85232
SNOMED-CT 64 63247009
Orphanet 55 ORPHA904
MESH via Orphanet 42 D018980
UMLS via Orphanet 70 C0175702
ICD10 via Orphanet 33 Q87.8
MedGen 39 C0175702
KEGG 36 H01439
SNOMED-CT via HPO 65 263681008 197927001 197866008 more
UMLS 69 C0175702

Summaries for Williams-Beuren Syndrome

NINDS : 50 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 idiopathic infantile hypercalcemia, and has symptoms including arthralgia, constipation and tremor. An important gene associated with Williams-Beuren Syndrome is ELN (Elastin). The drugs Hydrocortisone and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and eye, and related phenotype is Decreased free cholesterol.

Genetics Home Reference : 24 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 : 49 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. The condition usually occurs 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. Last updated: 9/9/2016

OMIM : 53 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)

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 107)
# Related Disease Score Top Affiliating Genes
1 supravalvular aortic stenosis 32.5 ELN GTF2I LIMK1
2 idiopathic infantile hypercalcemia 12.6
3 zori stalker williams syndrome 11.9
4 werner syndrome 11.8
5 waardenburg syndrome, type 2e 11.7
6 waldenstrom macroglobulinemia 11.3
7 tibia, hypoplasia or aplasia of, with polydactyly 11.2
8 atypical werner syndrome 11.2
9 macroglobulinemia, waldenstrom 1 11.2
10 waardenburg syndrome, type 3 11.2
11 weill-marchesani syndrome 11.1
12 chromosome 7q11.23 deletion syndrome, distal, 1.2-mb 11.1
13 beckwith-wiedemann syndrome 11.1
14 7q11.23 duplication syndrome 11.1
15 waardenburg's syndrome 11.0
16 waardenburg syndrome, type 2b 11.0
17 waardenburg syndrome, type 2c 11.0
18 waardenburg syndrome, type 2d 11.0
19 waardenburg syndrome, type 4b 11.0
20 waardenburg syndrome, type 4c 11.0
21 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 10.9
22 weill-marchesani syndrome 2 10.9
23 weill-marchesani syndrome 3 10.9
24 williams-beuren region duplication syndrome 10.9
25 waardenburg syndrome, type 2a 10.8
26 waardenburg syndrome, type 4a 10.8
27 alzheimer disease 10.5
28 chromophobe renal cell carcinoma 10.5
29 renal oncocytoma 10.5
30 autism 10.4
31 macroglobulinemia 10.3
32 hypercalcemia, infantile, 1 10.3
33 aging 10.3
34 ayme-gripp syndrome 10.2
35 alacrima, achalasia, and mental retardation syndrome 10.2
36 keratoconus 10.2
37 epilepsy 10.2
38 neurofibromatosis, type iv, of riccardi 10.1
39 celiac disease 1 10.1
40 anxiety 10.1
41 autism spectrum disorder 10.1
42 lymphoma 10.1
43 hypothyroidism 10.1
44 achalasia 10.1
45 chromosomal deletion syndrome 10.0 BAZ1B ELN GTF2I GTF2IRD1 GTF2IRD2 GTF2IRD2B
46 autoimmune disease 10.0
47 cardiac conduction defect 10.0
48 sotos syndrome 1 10.0
49 cleft palate, isolated 10.0
50 multiple sclerosis 10.0

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



Diseases related to Williams-Beuren Syndrome

Symptoms & Phenotypes for Williams-Beuren Syndrome

Symptoms via clinical synopsis from OMIM:

53
Skeletal:
joint laxity
osteopenia
osteoporosis
joint contractures

Growth Weight:
abnormal weight gain

Chest RibsSternum Clavicles And Scapulae:
pectus excavatum

Abdomen External Features:
inguinal hernia

Growth Height:
short stature

Head And Neck Face:
long philtrum
flat midface
epicanthal folds
medial eyebrow flare
periorbital fullness (puffy eyes)

Head And Neck Teeth:
microdontia
hypodontia

Cardiovascular Heart:
atrial septal defect
bicuspid aortic valve
mitral regurgitation
mitral valve prolapse
ventricular septal defect
more
Genitourinary Bladder:
recurrent urinary tract infections
urethral stenosis
enuresis
bladder diverticula
voiding frequency/urgency
more
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
Skin Nails Hair Skin:
soft skin
decreased skin stiffness
easier stretching
increased wrinkles
abnormal scarring
more
Head And Neck Mouth:
thick lips

Growth Other:
intrauterine growth retardation (iugr)

Voice:
harsh, brassy, or hoarse voice

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

Abdomen Gastroin testinal:
chronic constipation
gastroesophageal reflux
diverticulosis
colic
difficulty feeding
more
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

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

Neurologic Behavioral Psychiatric Manifestations:
anxiety
obsessive-compulsive traits
attention deficit disorder
friendly personality
gregarious
more
Genitourinary Ureters:
vesicoureteral reflux

Skeletal Feet:
hallux valgus

Respiratory Larynx:
vocal cord paralysis

Skeletal Spine:
kyphoscoliosis

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

Human phenotypes related to Williams-Beuren Syndrome:

55 31 (show top 50) (show all 237)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 55 31 frequent (33%) Frequent (79-30%) HP:0002829
2 constipation 55 31 frequent (33%) Frequent (79-30%) HP:0002019
3 tremor 55 31 hallmark (90%) Very frequent (99-80%) HP:0001337
4 abdominal pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0002027
5 joint stiffness 55 31 frequent (33%) Frequent (79-30%) HP:0001387
6 nausea and vomiting 55 31 frequent (33%) Frequent (79-30%) HP:0002017
7 abnormality of extrapyramidal motor function 55 31 hallmark (90%) Very frequent (99-80%) HP:0002071
8 joint laxity 55 31 frequent (33%) Occasional (29-5%) HP:0001388
9 hyperacusis 55 31 frequent (33%) Very frequent (99-80%) HP:0010780
10 periorbital edema 55 31 hallmark (90%) Very frequent (99-80%) HP:0100539
11 elfin facies 55 31 hallmark (90%) Very frequent (99-80%) HP:0004428
12 pectus excavatum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000767
13 obesity 55 31 frequent (33%) Frequent (79-30%) HP:0001513
14 genu valgum 55 31 frequent (33%) Frequent (79-30%) HP:0002857
15 hypothyroidism 55 31 very rare (1%) Occasional (29-5%) HP:0000821
16 precocious puberty 55 31 occasional (7.5%) Occasional (29-5%) HP:0000826
17 osteopenia 55 31 frequent (33%) Occasional (29-5%) HP:0000938
18 intellectual disability 55 31 frequent (33%) Very frequent (99-80%) HP:0001249
19 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
20 spasticity 55 31 frequent (33%) Frequent (79-30%) HP:0001257
21 dysarthria 55 31 occasional (7.5%) Occasional (29-5%) HP:0001260
22 hyperreflexia 55 31 frequent (33%) Very frequent (99-80%) HP:0001347
23 dysphonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001618
24 sudden cardiac death 55 31 occasional (7.5%) Occasional (29-5%) HP:0001645
25 developmental regression 55 31 occasional (7.5%) Occasional (29-5%) HP:0002376
26 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
27 kyphosis 55 31 frequent (33%) Frequent (79-30%) HP:0002808
28 hyperlordosis 55 31 frequent (33%) Frequent (79-30%) HP:0003307
29 inguinal hernia 55 31 occasional (7.5%) Frequent (79-30%) HP:0000023
30 macroglossia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000158
31 gingival overgrowth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000212
32 coarse facial features 55 31 hallmark (90%) Very frequent (99-80%) HP:0000280
33 chronic otitis media 55 31 frequent (33%) Frequent (79-30%) HP:0000389
34 macrotia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000400
35 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
36 dental malocclusion 55 31 frequent (33%) Frequent (79-30%) HP:0000689
37 recurrent respiratory infections 55 31 occasional (7.5%) Occasional (29-5%) HP:0002205
38 delayed skeletal maturation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002750
39 type ii diabetes mellitus 55 31 occasional (7.5%) Occasional (29-5%) HP:0005978
40 corneal opacity 55 31 occasional (7.5%) Occasional (29-5%) HP:0007957
41 open bite 55 31 hallmark (90%) Very frequent (99-80%) HP:0010807
42 wide nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000431
43 carious teeth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000670
44 umbilical hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001537
45 pes planus 55 31 frequent (33%) Frequent (79-30%) HP:0001763
46 malabsorption 55 31 occasional (7.5%) Occasional (29-5%) HP:0002024
47 short nose 55 31 frequent (33%) Very frequent (99-80%) HP:0003196
48 microcephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000252
49 sensorineural hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000407
50 visual impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000505

UMLS symptoms related to Williams-Beuren Syndrome:


chronic constipation, abnormal weight gain, hyperacusis

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.8 BAZ1B MLXIPL TBL2

Drugs & Therapeutics for Williams-Beuren Syndrome

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

(show top 50) (show all 112)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 657311 5754
2
Ethanol Approved Phase 4 64-17-5 702
3
Kinetin Approved Phase 4 525-79-1 3830
4
Polidocanol Approved Phase 4 9002-92-0
5
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
6
Methylphenidate Approved, Investigational Phase 4 20748-11-2, 113-45-1 4158
7
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
8
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
9 Tocopherol Approved, Investigational, Nutraceutical Phase 4
10
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
11
Butyric Acid Experimental, Investigational Phase 4 107-92-6 264
12 Anti-Inflammatory Agents Phase 4
13 Cortisol succinate Phase 4
14 Hydrocortisone 17-butyrate 21-propionate Phase 4
15 Hydrocortisone acetate Phase 4
16 Hydrocortisone-17-butyrate Phase 4
17 Carbopol 940 Phase 4
18 Mitogens Phase 4
19 Tocopherols Phase 4
20 Tocotrienols Phase 4
21 Estrogens Phase 4
22 Estrogens, Conjugated (USP) Phase 4
23 Hormone Antagonists Phase 4
24 Hormones Phase 4
25 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
26 Central Nervous System Depressants Phase 4
27 Antipsychotic Agents Phase 4
28 Central Nervous System Stimulants Phase 4
29 Dopamine Agents Phase 4
30 Dopamine Antagonists Phase 4
31 Dopamine Uptake Inhibitors Phase 4
32 Neurotransmitter Agents Phase 4
33 Neurotransmitter Uptake Inhibitors Phase 4
34 Psychotropic Drugs Phase 4
35
Serotonin Phase 4 50-67-9 5202
36 Serotonin Agents Phase 4
37 Serotonin Antagonists Phase 4
38 Tranquilizing Agents Phase 4
39 Aloe Nutraceutical Phase 4
40 Citrate Nutraceutical Phase 4
41 Phytosterol Nutraceutical Phase 4
42 Soy Bean Nutraceutical Phase 4
43 Tocotrienol Investigational, Nutraceutical Phase 4 6829-55-6
44
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
45
Glycerol Approved, Investigational Phase 3 56-81-5 753
46
Candesartan Experimental Phase 3 139481-59-7 2541
47 Angiotensin II Type 1 Receptor Blockers Phase 3
48 Angiotensin Receptor Antagonists Phase 3
49 Angiotensinogen Phase 3
50 Antihypertensive Agents Phase 3,Phase 2

Interventional clinical trials:

(show all 48)

# Name Status NCT ID Phase Drugs
1 Aruba Aloe Formula F-BC-096 in the Treatment of Split Thickness Donor Site After Wound Closure Completed NCT01213420 Phase 4
2 Steroids in Bilateral Total Knee Replacement Completed NCT01399268 Phase 4 Hydrocortisone;Saline
3 Efficacy and Safety of Kinetin 0.1% for Treatment of Skin Photoaging Completed NCT01898182 Phase 4
4 Effect of Preoperative Estrogen Treatment on Connective Tissues of the Pelvic Floor Completed NCT01778985 Phase 4 Premarin
5 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
6 A Comparison of OASIS Wound Matrix With Approved Dressings for Skin Graft Donor Sites Withdrawn NCT02994589 Phase 4
7 The Potential of Candesartan to Retard the Progression of Aortic Stenosis Unknown status NCT00699452 Phase 3 candesartan;placebo
8 Application of Cultured Autologous Keratinocytes for Burn Wound Healing Completed NCT00832156 Phase 3
9 Dermal Substitute and Topical Negative Pressure in Burns Completed NCT00548314 Phase 3
10 Efficacy of Collagen-elastin Dermal Substitute in the Treatment of Loss of Cutaneous Substances With Skin Grafts Recruiting NCT02090361 Phase 3
11 Ligasure II: Standard Stapling Versus Ligasure Terminated NCT01349426 Phase 3
12 Glyaderm Clinical Evaluation Multicenter Study Terminated NCT01616043 Phase 3
13 Safety Study of CTX-100 Inhalation Solution (Formerly ETX-100) Unknown status NCT00993707 Phase 2 CTX-100 (formerly ETX-100) (hyaluronic acid)
14 Efficacy of Minoxidil in Children With Williams-Beuren Syndrome Completed NCT00876200 Phase 2 Minoxidil;Placebo
15 Effect of Double Dose of Alpha 1-antitrypsin Augmentation Therapy on Lung Inflammation. Completed NCT01669421 Phase 2 Alpha-1 Antitrypsin (human)
16 Safety Study of Three Formulations of the Dermal Implant ELAPR Completed NCT01467778 Phase 1
17 Two Formulations of ELAPR Compared to Restylane® Vital Light Following Repeat Implants in the Upper Arm Dermis Completed NCT01466413 Phase 1
18 A Study to Evaluate the Efficacy of ELAPR in Women With Striae Distensae Alba Active, not recruiting NCT02510768 Phase 1
19 Evaluating Genetic Factors That May Contribute to Elastin Function and the Development of Chronic Obstructive Pulmonary Disease Unknown status NCT00725309
20 Potential Biomarkers for Early Diagnosis of Acute Aortic Dissection Unknown status NCT01860768
21 EnSeal Efficacy and Bursting Pressure in Human Vessels Unknown status NCT01312246
22 Fat Distribution and Glucose Metabolism in Williams Syndrome Completed NCT01864304
23 Response Inhibition Training for Children With Williams Syndrome Completed NCT02212314
24 WS-SAVE Study (Williams Syndrome Skin and Vessel Elasticity Study) Completed NCT02692846
25 Vitamin D Metabolism and the Williams Syndrome Completed NCT00013962 Vitamin D
26 Alterations in Connective Tissue in Patients With or Without Pelvic Organ Prolapse Completed NCT01749696
27 The Effects of Microdermabrasion on Skin Remodeling Completed NCT00111254
28 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
29 Ancillary T Cell Based Studies in SPIROMICS Completed NCT02036190
30 Assessing the Effects of Tretinoin Cream on Human Skin With Optical Imaging Technologies Completed NCT02410980 Early Phase 1 Tretinoin cream 0.1%
31 Mechanisms of Skin Repair by Topical Estrogen Completed NCT00113100 Topical 17-beta estradiol in ethanol/propylene glycol (ETOH/PG)
32 Biomarkers of Injury and Destruction in the Cystic Fibrosis Lung Completed NCT01805713
33 Study of the Pathobiology of Bronchopulmonary Dysplasia in Newborns Completed NCT00006058
34 Identification of Genetic Markers for Cardiopulmonary Diseases (Genotype) Completed NCT00616369
35 Investigation of the Pain Relieving Properties of Lipotransplantation After Treatment for Breast Cancer Completed NCT01888419
36 Impact of Elastin Mediated Vascular Stiffness on End Organs Recruiting NCT02840448
37 Defining the Brain Phenotype of Children With Williams Syndrome Recruiting NCT01132885
38 Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue Bank Recruiting NCT02706639
39 The Effects of Discontinuation of Vitamin K Antagonists on the Rate of Elastin Degradation Recruiting NCT03285100
40 Fragmentation of Elastin as a Biological Marker of Frailty and Impact in Tumor Progression in Elderly Patients With Cancer Recruiting NCT02807129
41 Influence of Statins in Artery Aneurysms Recruiting NCT03061487
42 Hormonal Status on Blood Flow and Tissue in Pelvic Organ Prolapse Recruiting NCT01886794 Topical Vaginal Estrogen Cream/placebo
43 Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic Imaging Recruiting NCT02538822
44 ELectrosurgical Bipolar Devices VS Convention Electronicautery Recruiting NCT03166384
45 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
46 Role of Extracellular Matrix in the Development of Airway Remodeling in Asthma Recruiting NCT03388359
47 A Study to Evaluate the Efficacy of ELAPR002f and ELAPR002g in Females and Males With Atrophic Acne Scars Active, not recruiting NCT03056235
48 Evaluation of Safety and Efficacy of Micro-coring Device for Treatment of Facial Wrinkles and Skin Laxity Active, not recruiting NCT03228641

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 28 ELN MLXIPL

Anatomical Context for Williams-Beuren Syndrome

MalaCards organs/tissues related to Williams-Beuren Syndrome:

38
Skin, Heart, Eye, Bone, Kidney, Brain, Lung

Publications for Williams-Beuren Syndrome

Articles related to Williams-Beuren Syndrome:

(show top 50) (show all 945)
# Title Authors Year
1
Oral findings in Williams-Beuren syndrome. ( 29274148 )
2018
2
Endocrine manifestations in children with Williams-Beuren syndrome. ( 29266477 )
2017
3
Computerized Tomography Use in Williams-Beuren Syndrome Aortopathy. ( 28584589 )
2017
4
Cardiac arrest related to anaesthesia in Williams-Beuren syndrome. ( 29246395 )
2017
5
Seven cases with Williams-Beuren syndrome: endocrine evaluation and long-term follow-up. ( 28085672 )
2017
6
High-resolution single nucleotide polymorphism arrays identified an atypical microdeletion of the Williams-Beuren syndrome interval in a patient presenting with a different phenotype. ( 28259930 )
2017
7
<i>Drosophila</i> Model for the Analysis of Genesis of LIM-kinase 1-Dependent Williams-Beuren Syndrome Cognitive Phenotypes: INDELs, Transposable Elements of the Tc1/<i>Mariner</i>Superfamily and MicroRNAs. ( 28979292 )
2017
8
The A9elfin faceA9: craniofacial and dental aspects of the Williams-Beuren syndrome. ( 28691460 )
2017
9
Impaired glucose metabolism in subjects with the Williams-Beuren syndrome: A five-year follow-up cohort study. ( 29053727 )
2017
10
Keratoconus associated with Williams-Beuren syndrome: a new case report. ( 28503444 )
2017
11
Acquired von Willebrand Syndrome in an Infant With Coarctation of the Aorta and Williams Syndrome. ( 29113538 )
2017
12
Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology? ( 28626595 )
2017
13
A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema. ( 28574231 )
2017
14
Orthodontic Treatment and Maxillary Anterior Segmental Distraction Osteogenesis of a Subject with Williams-Beuren Syndrome and Isolated Cleft Palate: A Long-Term Follow-Up from the Age of 5 to 24 Years. ( 28744380 )
2017
15
Structural variants in genes associated with human Williams-Beuren syndrome underlie stereotypical hypersociability in domestic dogs. ( 28776031 )
2017
16
Altered body composition, lipedema, and decreased bone density in individuals with Williams syndrome: A preliminary report. ( 28254647 )
2017
17
DNA damage response defect in Williams-Beuren syndrome. ( 28098859 )
2017
18
A Common Polymorphism in a Williams Syndrome Gene Predicts Amygdala Reactivity and Extraversion in Healthy Adults. ( 26853120 )
2017
19
A rare association of central hypothyroidism and adrenal insufficiency in a boy with Williams-Beuren syndrome. ( 28443262 )
2017
20
DNA damage response defect in Williams-Beuren syndrome. ( 28350066 )
2017
21
Adolescent adaptive behavior profiles in Williams-Beuren syndrome, Down syndrome, and autism spectrum disorder. ( 28747993 )
2017
22
A Patient With Pansynostosis and Williams-Beuren Syndrome. ( 26703032 )
2016
23
Synaptic plasticity and spatial working memory are impaired in the CD mouse model of Williams-Beuren syndrome. ( 27485321 )
2016
24
Correlations between behavior, memory, sleep-wake and melatonin in Williams-Beuren syndrome. ( 26976740 )
2016
25
Lower urinary tract symptoms in children and adolescents with Williams-Beuren syndrome. ( 27876405 )
2016
26
Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1. ( 27613244 )
2016
27
Supernumerary nipples - a new finding in Williams syndrome. ( 26862942 )
2016
28
An InA Vivo Gain-of-Function Screen Identifies the Williams-Beuren Syndrome Gene GTF2IRD1 as a Mammary Tumor Promoter. ( 27239038 )
2016
29
Follicular thyroid carcinoma in a male adolescent with Williams-Beuren syndrome. ( 27116698 )
2016
30
Williams-Beuren Syndrome with Mirror Movements. ( 27306224 )
2016
31
Williams syndrome and mature B-Leukemia: A random association? ( 27771473 )
2016
32
Reciprocal Microduplication of the Williams-Beuren Syndrome Chromosome Region in a 9-Year-Old Omani Boy. ( 27069036 )
2016
33
Infantile spasms in Williams-Beuren syndrome with typical deletions of the 7q11.23 critical region and a review of the literature. ( 27062269 )
2016
34
Williams-Beuren syndrome--a rare cause of recurrent hemoptysis. ( 27209840 )
2016
35
Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis. ( 27022327 )
2016
36
RNA-Seq analysis of Gtf2ird1 knockout epidermal tissue provides potential insights into molecular mechanisms underpinning Williams-Beuren syndrome. ( 27295951 )
2016
37
A human neurodevelopmental model for Williams syndrome. ( 27509850 )
2016
38
Facial emotion processing in patients with social anxiety disorder and Williams-Beuren syndrome: an fMRI study. ( 26624523 )
2016
39
Bone mineral status and metabolism in patients with Williams-Beuren syndrome. ( 27394705 )
2016
40
Elastins from patients with Williams-Beuren syndrome and healthy individuals differ on the molecular level. ( 27311421 )
2016
41
Hypercalcemia in Patients with Williams-Beuren Syndrome. ( 27574996 )
2016
42
End-stage ischemic heart failure and Williams-Beuren syndrome: A unique scenario for pediatric heart transplantation. ( 26918834 )
2016
43
Endocrine dysfunctions in children with Williams-Beuren syndrome. ( 27104174 )
2016
44
Williams-Beuren syndrome: pitfalls for diagnosis in limited resources setting. ( 27014455 )
2016
45
Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways. ( 26755828 )
2016
46
Williams-Beuren Syndrome: A Case Confirmed by Array-CGH Method. ( 26199689 )
2015
47
A rare case of discrete aortic coarctation in Williams-Beuren syndrome. Diagnostic and therapeutic considerations. ( 26429123 )
2015
48
Disruption of Src Is Associated with Phenotypes Related to Williams-Beuren Syndrome and Altered Cellular Localization of TFII-I(1,2). ( 26464974 )
2015
49
Williams syndrome presenting with findings consistent with Alagille syndrome. ( 25678968 )
2015
50
Resting State Functional Connectivity in Individuals with Down Syndrome and Williams Syndrome Compared to Typically Developing Controls. ( 25712025 )
2015

Variations for Williams-Beuren Syndrome

ClinVar genetic disease variations for Williams-Beuren Syndrome:

6 (show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 ELN ELN, 1-BP DEL, 1821C deletion Pathogenic
2 ELN ELN, 100-KB DEL deletion Pathogenic
3 ELN ELN, 30-KB DEL deletion Pathogenic
4 ELN ELN, IVS15AS, A-G, -2 single nucleotide variant Pathogenic
5 ELN NM_000501.3(ELN): c.1324C> T (p.Gln442Ter) single nucleotide variant Pathogenic rs137854452 GRCh37 Chromosome 7, 73471010: 73471010
6 ELN NM_000501.3(ELN): c.1621C> T (p.Arg541Ter) single nucleotide variant Pathogenic rs137854453 GRCh37 Chromosome 7, 73474514: 73474514
7 ELN ELN, 1-BP INS, FS615TER insertion Pathogenic
8 ELN ELN, IVS15AS, C-G, -3 single nucleotide variant Pathogenic
9 ELN ELN, 1-BP DEL, 1040C deletion Pathogenic
10 ELN NM_000501.3(ELN): c.450C> G (p.Tyr150Ter) single nucleotide variant Pathogenic rs137854454 GRCh37 Chromosome 7, 73458231: 73458231
11 ELN NM_000501.3(ELN): c.526A> T (p.Lys176Ter) single nucleotide variant Pathogenic rs137854455 GRCh37 Chromosome 7, 73459608: 73459608
12 ELN ELN, ARG610GLN AND 24-BP DUP, NT1034 duplication Pathogenic
13 CYP24A1 NM_000782.4(CYP24A1): c.428_430delAAG (p.Glu143del) deletion Pathogenic rs777676129 GRCh37 Chromosome 20, 52789467: 52789469
14 ELN ELN, IVS28, G-C, +5 single nucleotide variant Pathogenic
15 ELN NM_000501.3(ELN): c.800-3C> G single nucleotide variant Pathogenic rs397516433 GRCh37 Chromosome 7, 73466077: 73466077
16 ELN NM_000501.3(ELN): c.1744delG (p.Ala582Glnfs) deletion Pathogenic rs727503783 GRCh37 Chromosome 7, 73474828: 73474828
17 ELN NM_000501.3(ELN): c.43dupC (p.Leu15Profs) duplication Pathogenic rs727503022 GRCh37 Chromosome 7, 73442560: 73442560
18 ELN NM_000501.3(ELN): c.131delC (p.Pro44Glnfs) deletion Pathogenic rs727503023 GRCh37 Chromosome 7, 73449742: 73449742
19 ELN NM_000501.3(ELN): c.435delG (p.Leu146Cysfs) deletion Pathogenic rs727503024 GRCh37 Chromosome 7, 73458216: 73458216
20 ELN NM_001278939.1(ELN): c.800-2A> G single nucleotide variant Pathogenic rs727503027 GRCh37 Chromosome 7, 73466078: 73466078
21 ELN NM_000501.3(ELN): c.862dupG (p.Ala288Glyfs) duplication Pathogenic rs727503028 GRCh37 Chromosome 7, 73466142: 73466142
22 ELN NM_000501.3(ELN): c.1097-1G> A single nucleotide variant Pathogenic rs727503029 GRCh37 Chromosome 7, 73469045: 73469045
23 ELN NM_000501.3(ELN): c.1150+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727503030 GRCh37 Chromosome 7, 73469100: 73469100
24 ELN NM_000501.3(ELN): c.1785T> A (p.Tyr595Ter) single nucleotide variant Pathogenic rs727503033 GRCh37 Chromosome 7, 73475468: 73475468
25 ELN NM_000501.3(ELN): c.1918+1G> A single nucleotide variant Pathogenic rs727503035 GRCh37 Chromosome 7, 73477700: 73477700
26 ELN NM_000501.3(ELN): c.889+2T> C single nucleotide variant Pathogenic rs727504419 GRCh37 Chromosome 7, 73466171: 73466171
27 ELN NM_000501.3(ELN): c.1208delG (p.Gly403Alafs) deletion Pathogenic rs727504433 GRCh37 Chromosome 7, 73470658: 73470658
28 ELN NM_000501.3(ELN): c.890-2A> G single nucleotide variant Pathogenic rs727504434 GRCh37 Chromosome 7, 73466252: 73466252
29 ELN NM_000501.3(ELN): c.608delC (p.Pro203Hisfs) deletion Pathogenic rs727504581 GRCh38 Chromosome 7, 74046732: 74046732
30 ELN NM_000501.3(ELN): c.1113_1114insA (p.Ala372Serfs) insertion Pathogenic rs730880355 GRCh38 Chromosome 7, 74054732: 74054732
31 ELN NM_001278939.1(ELN): c.417delG (p.Val141Cysfs) deletion Pathogenic rs878854452 GRCh37 Chromosome 7, 73457488: 73457488
32 ELN NC_000007.13: g.(?_73482987)_(73484237_?)del deletion Pathogenic GRCh37 Chromosome 7, 73482987: 73484237
33 ELN NC_000007.13: g.(?_73442119)_(73484237_?)del deletion Pathogenic GRCh37 Chromosome 7, 73442119: 73484237
34 ELN NM_001278939.1(ELN): c.383delT (p.Val128Glyfs) deletion Pathogenic GRCh37 Chromosome 7, 73457454: 73457454

Copy number variations for Williams-Beuren Syndrome from CNVD:

7 (show top 50) (show all 239)
# CNVD ID Chromosom 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 regulation of transcription by RNA polymerase II GO:0006357 9.35 GTF2I GTF2IRD1 GTF2IRD2 GTF2IRD2B MLXIPL
2 transition between slow and fast fiber GO:0014886 8.62 GTF2I GTF2IRD1

Molecular functions related to Williams-Beuren Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 8.92 GTF2I GTF2IRD1 GTF2IRD2 GTF2IRD2B

Sources for Williams-Beuren Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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