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 57 12 53 25 59 37 13 15 38
Williams Syndrome 57 76 24 53 25 54 59 29 55 44 40 73
Wbs 57 53 25
Wms 57 53 25
Infantile Hypercalcemia 25 6
Deletion 7q11.23 53 59
Monosomy 7q11.23 53 59
Chromosome 7q11.23 Deletion Syndrome, 1.5- to 1.8-Mb 57
Hypercalcemia-Supravalvar Aortic Stenosis 25
Supravalvar Aortic Stenosis Syndrome 25
Elfin Facies with Hypercalcemia 25
Fanconi Schlesinger Syndrome 12
Williams Syndrome; Wms; Ws 57
Syndrome, Williams-Beuren 40
Elfin Facies Syndrome 25
Beuren Syndrome 25
Ws 25

Characteristics:

Orphanet epidemiological data:

59
williams syndrome
Inheritance: Not applicable; Prevalence: 1-5/10000 (Worldwide),1-9/100000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
williams-beuren syndrome:
Mortality/Aging death in early adulthood sudden death
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 194050
Disease Ontology 12 DOID:1928
MeSH 44 D018980
NCIt 50 C85232
SNOMED-CT 68 63247009
Orphanet 59 ORPHA904
ICD10 via Orphanet 34 Q87.8
MESH via Orphanet 45 D018980
UMLS via Orphanet 74 C0175702
MedGen 42 C0175702
KEGG 37 H01439
SNOMED-CT via HPO 69 263681008 197927001 197866008 more
UMLS 73 C0175702

Summaries for Williams-Beuren Syndrome

NINDS : 54 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 hyperacusis, abnormal weight gain and chronic constipation. An important gene associated with Williams-Beuren Syndrome is WBS2 (Williams-Beuren Syndrome Type 2). The drugs Hydrocortisone and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and eye, and related phenotypes are pectus excavatum and obesity

OMIM : 57 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)

NIH Rare Diseases : 53 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.

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.

Wikipedia : 76 Williams syndrome (WS) is a genetic disorder that affects many parts of the body. Facial features... more...

GeneReviews:

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 32.6 ELN GTF2I LIMK1
2 idiopathic infantile hypercalcemia 12.5
3 zori stalker williams syndrome 11.9
4 waldenstrom macroglobulinemia 11.9
5 werner syndrome 11.8
6 waardenburg syndrome, type 2e 11.7
7 pectus excavatum, macrocephaly, short stature, and dysplastic nails 11.5
8 waardenburg's syndrome 11.4
9 waardenburg syndrome, type 3 11.3
10 lymphoplasmacytic lymphoma 11.3
11 tibia, hypoplasia or aplasia of, with polydactyly 11.2
12 atypical werner syndrome 11.2
13 macroglobulinemia, waldenstrom 1 11.2
14 weill-marchesani syndrome 11.1
15 hypercalcemia, infantile, 1 11.1
16 hypercalcemia, infantile, 2 11.1
17 chromosome 7q11.23 deletion syndrome, distal, 1.2-mb 11.1
18 beckwith-wiedemann syndrome 11.0
19 7q11.23 duplication syndrome 11.0
20 waardenburg syndrome, type 2b 11.0
21 waardenburg syndrome, type 2c 11.0
22 waardenburg syndrome, type 2d 11.0
23 waardenburg syndrome, type 4b 11.0
24 waardenburg syndrome, type 4c 11.0
25 williams-beuren region duplication syndrome 10.9
26 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 10.9
27 weill-marchesani syndrome 2 10.9
28 weill-marchesani syndrome 3 10.9
29 waardenburg syndrome, type 2a 10.8
30 waardenburg syndrome, type 4a 10.8
31 alzheimer disease 10.5
32 chromophobe renal cell carcinoma 10.5
33 renal oncocytoma 10.5
34 autism 10.4
35 macroglobulinemia 10.3
36 aging 10.3
37 alacrima, achalasia, and mental retardation syndrome 10.2
38 keratoconus 10.2
39 autism spectrum disorder 10.2
40 epilepsy 10.2
41 celiac disease 1 10.1
42 anxiety 10.1
43 lymphoma 10.1
44 hypothyroidism 10.1
45 achalasia 10.1
46 chromosomal deletion syndrome 10.1 BAZ1B ELN GTF2I GTF2IRD1 GTF2IRD2 GTF2IRD2B
47 type i 10.1
48 autoimmune disease 10.0
49 cardiac conduction defect 10.0
50 sotos syndrome 1 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:

57
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Skeletal:
osteopenia
osteoporosis
joint laxity
joint contractures

Head And Neck Nose:
depressed nasal bridge
anteverted nares

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

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
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

Respiratory Larynx:
vocal cord paralysis

Skeletal Spine:
kyphoscoliosis

Skin Nails Hair Nails:
hypoplastic nails

Skin Nails Hair Hair:
premature graying

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

Abdomen External Features:
inguinal hernia

Growth Height:
short stature

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

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 Weight:
abnormal weight gain

Skeletal Limbs:
joint limitation

Laboratory Abnormalities:
hemizygous deletion at 7q11.23


Clinical features from OMIM:

194050

Human phenotypes related to Williams-Beuren Syndrome:

59 32 (show top 50) (show all 236)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
2 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
3 genu valgum 59 32 frequent (33%) Frequent (79-30%) HP:0002857
4 depressivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000716
5 hypothyroidism 59 32 very rare (1%) Occasional (29-5%) HP:0000821
6 precocious puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000826
7 osteopenia 59 32 frequent (33%) Occasional (29-5%) HP:0000938
8 intellectual disability 59 32 frequent (33%) Very frequent (99-80%) HP:0001249
9 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
10 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
11 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
12 tremor 59 32 hallmark (90%) Very frequent (99-80%) HP:0001337
13 hyperreflexia 59 32 frequent (33%) Very frequent (99-80%) HP:0001347
14 dysphonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001618
15 sudden cardiac death 59 32 occasional (7.5%) Occasional (29-5%) HP:0001645
16 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
17 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
18 developmental regression 59 32 occasional (7.5%) Occasional (29-5%) HP:0002376
19 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
20 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
21 hyperlordosis 59 32 frequent (33%) Frequent (79-30%) HP:0003307
22 inguinal hernia 59 32 occasional (7.5%) Frequent (79-30%) HP:0000023
23 macroglossia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000158
24 gingival overgrowth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000212
25 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
26 chronic otitis media 59 32 frequent (33%) Frequent (79-30%) HP:0000389
27 macrotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000400
28 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
29 dental malocclusion 59 32 frequent (33%) Frequent (79-30%) HP:0000689
30 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
31 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
32 type ii diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0005978
33 corneal opacity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007957
34 open bite 59 32 hallmark (90%) Very frequent (99-80%) HP:0010807
35 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
36 carious teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000670
37 joint stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0001387
38 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
39 pes planus 59 32 frequent (33%) Frequent (79-30%) HP:0001763
40 malabsorption 59 32 occasional (7.5%) Occasional (29-5%) HP:0002024
41 short nose 59 32 frequent (33%) Very frequent (99-80%) HP:0003196
42 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
43 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
44 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
45 short stature 59 32 frequent (33%) Very frequent (99-80%) HP:0004322
46 gastroesophageal reflux 59 32 frequent (33%) Occasional (29-5%) HP:0002020
47 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
48 proteinuria 59 32 frequent (33%) Frequent (79-30%) HP:0000093
49 myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003198
50 osteoporosis 59 32 frequent (33%) Occasional (29-5%) HP:0000939

UMLS symptoms related to Williams-Beuren Syndrome:


hyperacusis, abnormal weight gain, chronic constipation

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 9.13 BAZ1B MLXIPL TBL2
2 Increased LDL uptake GR00340-A-1 8.62 BUD23 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 116)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
2
Ethanol Approved Phase 4,Not Applicable 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 4 113-45-1 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 1406-66-2 14986
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,Not Applicable
22 Estrogens, Conjugated (USP) Phase 4,Not Applicable
23 Hormone Antagonists Phase 4,Not Applicable
24 Hormones Phase 4,Not Applicable
25 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Not Applicable
26 Central Nervous System Depressants Phase 4,Not Applicable
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 Agents Phase 4
36 Serotonin Antagonists Phase 4
37 Tranquilizing Agents Phase 4
38 Aloe Nutraceutical Phase 4
39 Citrate Nutraceutical Phase 4
40 Phytosterol Nutraceutical Phase 4
41 Soy Bean Nutraceutical Phase 4
42 Tocotrienol Investigational, Nutraceutical Phase 4 6829-55-6
43
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
44
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
45
Candesartan cilexetil Approved Phase 3 145040-37-5 2540
46
Glycerol Approved, Investigational Phase 3 56-81-5 753
47
Candesartan Experimental Phase 3 139481-59-7 2541
48 Angiotensin II Type 1 Receptor Blockers Phase 3
49 Angiotensin Receptor Antagonists Phase 3
50 Angiotensinogen Phase 3

Interventional clinical trials:

(show top 50) (show all 64)
# 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 Glyaderm Clinical Evaluation Multicenter Study Terminated NCT01616043 Phase 3
12 Ligasure II: Standard Stapling Versus Ligasure Terminated NCT01349426 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 Split-face Comparison Study to Assess ELAPR Compared to Juvéderm® for the Treatment of Nasolabial Folds Completed NCT01463657 Phase 1, Phase 2
16 Effect of Double Dose of Alpha 1-antitrypsin Augmentation Therapy on Lung Inflammation. Completed NCT01669421 Phase 2 Alpha-1 Antitrypsin (human)
17 Safety Study of Bone Marrow Derived Stem Cells on Patients With Cutaneous Photoaging Suspended NCT01771679 Phase 1, Phase 2
18 Safety Study of Three Formulations of the Dermal Implant ELAPR Completed NCT01467778 Phase 1
19 Two Formulations of ELAPR Compared to Restylane® Vital Light Following Repeat Implants in the Upper Arm Dermis Completed NCT01466413 Phase 1
20 A Study to Evaluate the Efficacy of ELAPR in Women With Striae Distensae Alba Completed NCT02510768 Phase 1
21 Using Autologous Platelet Rich Plasma (PRP) Gel to Treat Deep 2nd and 3rd Degree Burns Active, not recruiting NCT01843686 Phase 1
22 Potential Biomarkers for Early Diagnosis of Acute Aortic Dissection Unknown status NCT01860768
23 EnSeal Efficacy and Bursting Pressure in Human Vessels Unknown status NCT01312246 Not Applicable
24 Pre-operative Diet: Effect of Wound Healing After Bariatric Surgery Unknown status NCT01950052 Not Applicable
25 Fat Distribution and Glucose Metabolism in Williams Syndrome Completed NCT01864304
26 Response Inhibition Training for Children With Williams Syndrome Completed NCT02212314 Not Applicable
27 WS-SAVE Study (Williams Syndrome Skin and Vessel Elasticity Study) Completed NCT02692846
28 Vitamin D Metabolism and the Williams Syndrome Completed NCT00013962 Vitamin D
29 Evaluating Genetic Factors That May Contribute to Elastin Function and the Development of Chronic Obstructive Pulmonary Disease Completed NCT00725309
30 Ancillary T Cell Based Studies in SPIROMICS Completed NCT02036190
31 Alterations in Connective Tissue in Patients With or Without Pelvic Organ Prolapse Completed NCT01749696
32 The Effects of Microdermabrasion on Skin Remodeling Completed NCT00111254 Not Applicable
33 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
34 Assessing the Effects of Tretinoin Cream on Human Skin With Optical Imaging Technologies Completed NCT02410980 Early Phase 1 Tretinoin cream 0.1%
35 Mechanisms of Skin Repair by Topical Estrogen Completed NCT00113100 Not Applicable Topical 17-beta estradiol in ethanol/propylene glycol (ETOH/PG)
36 Evaluation of Safety and Efficacy of Micro-coring Device for Treatment of Facial Wrinkles and Skin Laxity Completed NCT03228641 Not Applicable
37 Biomarkers of Injury and Destruction in the Cystic Fibrosis Lung Completed NCT01805713
38 Study of the Pathobiology of Bronchopulmonary Dysplasia in Newborns Completed NCT00006058
39 Influence of of Cream With the Silver Fir Wood Extract (Belinal) on Skin Completed NCT02603029 Not Applicable
40 Investigation of the Pain Relieving Properties of Lipotransplantation After Treatment for Breast Cancer Completed NCT01888419 Not Applicable
41 Identification of Genetic Markers for Cardiopulmonary Diseases (Genotype) Completed NCT00616369
42 A Study Using Fractional Carbon Dioxide and Long Pulsed Neodymium-yttrium Aluminum Garnet Lasers in Treatment of Keloids Completed NCT03460431 Not Applicable
43 Histological Study to Evaluate Skin Changes After PicoWay® 1064 nm and 532nm Picosecond Fractional Laser Treatment Completed NCT02700204 Not Applicable
44 Assessment of the Impact of a Coenzyme Q10 Supplementation on the Skin Completed NCT02604641 Not Applicable
45 Evaluation of Fractional Bipolar Radiofrequency for the Treatment of Striae Completed NCT01788748 Not Applicable
46 Caesarean Scar Revision With the UltraPulse Completed NCT02050126 Not Applicable
47 Impact of Elastin Mediated Vascular Stiffness on End Organs Recruiting NCT02840448
48 Defining the Brain Phenotype of Children With Williams Syndrome Recruiting NCT01132885
49 The Effects of Discontinuation of Vitamin K Antagonists on the Rate of Elastin Degradation Recruiting NCT03285100
50 Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue Bank Recruiting NCT02706639

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:

41
Heart, Skin, Eye, Brain, Bone, Kidney, Amygdala

Publications for Williams-Beuren Syndrome

Articles related to Williams-Beuren Syndrome:

(show top 50) (show all 1014)
# Title Authors Year
1
Brief Report: Major Depressive Disorder with Psychotic Features in Williams Syndrome: A Case Series. ( 29164439 )
2018
2
Epigallocatechin-3-gallate improves cardiac hypertrophy and short-term memory deficits in a Williams-Beuren syndrome mouse model. ( 29554110 )
2018
3
Activity of Genes with Functions in Human Williams-Beuren Syndrome Is Impacted by Mobile Element Insertions in the Gray Wolf Genome. ( 29860323 )
2018
4
A postmortem stereological study of the amygdala in Williams syndrome. ( 29270815 )
2018
5
A novel dNTP-limited PCR and HRM assay to detect Williams-Beuren syndrome. ( 29550276 )
2018
6
Oral findings in Williams-Beuren syndrome. ( 29274148 )
2018
7
Consistent hypersocial behavior in mice carrying a deletion of <i>Gtf2i</i> but no evidence of hyposocial behavior with <i>Gtf2i</i> duplication: Implications for Williams-Beuren syndrome and autism spectrum disorder. ( 29568691 )
2018
8
Williams-Beuren syndrome in diverse populations. ( 29681090 )
2018
9
NMR assignments of the WBSCR27 protein related to Williams-Beuren syndrome. ( 29868988 )
2018
10
Quantifier comprehension is linked to linguistic rather than to numerical skills. Evidence from children with Down syndrome and Williams syndrome. ( 29949641 )
2018
11
A method for determining haploid and triploid genotypes and their association with vascular phenotypes in Williams syndrome and 7q11.23 duplication syndrome. ( 29614955 )
2018
12
Cardiac arrest related to anaesthesia in Williams-Beuren syndrome. ( 29246395 )
2017
13
Williams syndrome deletions and duplications: Genetic windows to understanding anxiety, sociality, autism, and schizophrenia. ( 28499504 )
2017
14
Seven cases with Williams-Beuren syndrome: endocrine evaluation and long-term follow-up. ( 28085672 )
2017
15
Dissociation of spatial memory systems in Williams syndrome. ( 28710800 )
2017
16
Altered body composition, lipedema, and decreased bone density in individuals with Williams syndrome: A preliminary report. ( 28254647 )
2017
17
The social nature of overimitation: Insights from Autism and Williams syndrome. ( 28088702 )
2017
18
Structural variants in genes associated with human Williams-Beuren syndrome underlie stereotypical hypersociability in domestic dogs. ( 28776031 )
2017
19
Impaired glucose metabolism in subjects with the Williams-Beuren syndrome: A five-year follow-up cohort study. ( 29053727 )
2017
20
<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
21
Keratoconus associated with Williams-Beuren syndrome: a new case report. ( 28503444 )
2017
22
DNA damage response defect in Williams-Beuren syndrome. ( 28098859 )
2017
23
Acquired von Willebrand Syndrome in an Infant With Coarctation of the Aorta and Williams Syndrome. ( 29113538 )
2017
24
Use and Effectiveness of Sleep Medications by Parent Report in Individuals with Williams Syndrome. ( 28937452 )
2017
25
Correction: An event related potential study of inhibitory and attentional control in Williams syndrome adults. ( 28481960 )
2017
26
A Case Report of in Utero Williams Syndrome Arterial Malformation. ( 29227713 )
2017
27
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
28
Diffuse hypoplasia of the aortic arch and isthmus in a patient with Williams syndrome. ( 29226900 )
2017
29
Adolescent adaptive behavior profiles in Williams-Beuren syndrome, Down syndrome, and autism spectrum disorder. ( 28747993 )
2017
30
The A9elfin faceA9: craniofacial and dental aspects of the Williams-Beuren syndrome. ( 28691460 )
2017
31
The Williams syndrome prosociality gene <i>GTF2I</i> mediates oxytocin reactivity and social anxiety in a healthy population. ( 28424317 )
2017
32
Williams syndrome-specific neuroanatomical profile and its associations with behavioral features. ( 28560159 )
2017
33
A rare association of central hypothyroidism and adrenal insufficiency in a boy with Williams-Beuren syndrome. ( 28443262 )
2017
34
A Common Polymorphism in a Williams Syndrome Gene Predicts Amygdala Reactivity and Extraversion in Healthy Adults. ( 26853120 )
2017
35
Computerized Tomography Use in Williams-Beuren Syndrome Aortopathy. ( 28584589 )
2017
36
Endocrine manifestations in children with Williams-Beuren syndrome. ( 29266477 )
2017
37
A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema. ( 28574231 )
2017
38
DNA damage response defect in Williams-Beuren syndrome. ( 28350066 )
2017
39
Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology? ( 28626595 )
2017
40
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
41
Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis. ( 27022327 )
2016
42
Hypercalcemia in Patients with Williams-Beuren Syndrome. ( 27574996 )
2016
43
A human neurodevelopmental model for Williams syndrome. ( 27509850 )
2016
44
Synaptic plasticity and spatial working memory are impaired in the CD mouse model of Williams-Beuren syndrome. ( 27485321 )
2016
45
Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways. ( 26755828 )
2016
46
Learning from facial expressions in individuals with Williams syndrome. ( 27503702 )
2016
47
Reciprocal Microduplication of the Williams-Beuren Syndrome Chromosome Region in a 9-Year-Old Omani Boy. ( 27069036 )
2016
48
Infantile spasms in Williams-Beuren syndrome with typical deletions of the 7q11.23 critical region and a review of the literature. ( 27062269 )
2016
49
Lower urinary tract symptoms in children and adolescents with Williams-Beuren syndrome. ( 27876405 )
2016
50
Coronary ostium occlusion by coronary cusp displacement in Williams syndrome. ( 26711184 )
2016

Variations for Williams-Beuren Syndrome

ClinVar genetic disease variations for Williams-Beuren Syndrome:

6
(show top 50) (show all 130)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP24A1 NM_000782.4(CYP24A1): c.428_430delAAG (p.Glu143del) deletion Pathogenic rs777676129 GRCh37 Chromosome 20, 52789467: 52789469
2 CYP24A1 NM_000782.4(CYP24A1): c.428_430delAAG (p.Glu143del) deletion Pathogenic rs777676129 GRCh38 Chromosome 20, 54172928: 54172930
3 CYP24A1 NM_000782.4(CYP24A1): c.*1095C> G single nucleotide variant Uncertain significance rs886056780 GRCh37 Chromosome 20, 52770216: 52770216
4 CYP24A1 NM_000782.4(CYP24A1): c.*1095C> G single nucleotide variant Uncertain significance rs886056780 GRCh38 Chromosome 20, 54153677: 54153677
5 CYP24A1 NM_000782.4(CYP24A1): c.*715C> G single nucleotide variant Benign rs6022987 GRCh38 Chromosome 20, 54154057: 54154057
6 CYP24A1 NM_000782.4(CYP24A1): c.*715C> G single nucleotide variant Benign rs6022987 GRCh37 Chromosome 20, 52770596: 52770596
7 CYP24A1 NM_000782.4(CYP24A1): c.*140T> C single nucleotide variant Benign rs4809957 GRCh38 Chromosome 20, 54154632: 54154632
8 CYP24A1 NM_000782.4(CYP24A1): c.*140T> C single nucleotide variant Benign rs4809957 GRCh37 Chromosome 20, 52771171: 52771171
9 CYP24A1 NM_000782.4(CYP24A1): c.1124C> T (p.Pro375Leu) single nucleotide variant Uncertain significance rs189801930 GRCh37 Chromosome 20, 52775529: 52775529
10 CYP24A1 NM_000782.4(CYP24A1): c.1124C> T (p.Pro375Leu) single nucleotide variant Uncertain significance rs189801930 GRCh38 Chromosome 20, 54158990: 54158990
11 CYP24A1 NM_000782.4(CYP24A1): c.991-9G> A single nucleotide variant Uncertain significance rs886056787 GRCh37 Chromosome 20, 52775671: 52775671
12 CYP24A1 NM_000782.4(CYP24A1): c.991-9G> A single nucleotide variant Uncertain significance rs886056787 GRCh38 Chromosome 20, 54159132: 54159132
13 CYP24A1 NM_000782.4(CYP24A1): c.776T> C (p.Leu259Pro) single nucleotide variant Uncertain significance rs373902459 GRCh37 Chromosome 20, 52781059: 52781059
14 CYP24A1 NM_000782.4(CYP24A1): c.776T> C (p.Leu259Pro) single nucleotide variant Uncertain significance rs373902459 GRCh38 Chromosome 20, 54164520: 54164520
15 CYP24A1 NM_000782.4(CYP24A1): c.577C> A (p.Leu193Ile) single nucleotide variant Uncertain significance rs377696502 GRCh37 Chromosome 20, 52786194: 52786194
16 CYP24A1 NM_000782.4(CYP24A1): c.744G> A (p.Thr248=) single nucleotide variant Benign rs6068816 GRCh37 Chromosome 20, 52781091: 52781091
17 CYP24A1 NM_000782.4(CYP24A1): c.744G> A (p.Thr248=) single nucleotide variant Benign rs6068816 GRCh38 Chromosome 20, 54164552: 54164552
18 CYP24A1 NM_000782.4(CYP24A1): c.695G> A (p.Gly232Glu) single nucleotide variant Uncertain significance rs552660376 GRCh37 Chromosome 20, 52782318: 52782318
19 CYP24A1 NM_000782.4(CYP24A1): c.695G> A (p.Gly232Glu) single nucleotide variant Uncertain significance rs552660376 GRCh38 Chromosome 20, 54165779: 54165779
20 CYP24A1 NM_000782.4(CYP24A1): c.577C> A (p.Leu193Ile) single nucleotide variant Uncertain significance rs377696502 GRCh38 Chromosome 20, 54169655: 54169655
21 CYP24A1 NM_000782.4(CYP24A1): c.295A> G (p.Met99Val) single nucleotide variant Uncertain significance rs886056789 GRCh37 Chromosome 20, 52789602: 52789602
22 CYP24A1 NM_000782.4(CYP24A1): c.295A> G (p.Met99Val) single nucleotide variant Uncertain significance rs886056789 GRCh38 Chromosome 20, 54173063: 54173063
23 CYP24A1 NM_000782.4(CYP24A1): c.259-5T> C single nucleotide variant Uncertain significance rs372360343 GRCh37 Chromosome 20, 52789643: 52789643
24 CYP24A1 NM_000782.4(CYP24A1): c.259-5T> C single nucleotide variant Uncertain significance rs372360343 GRCh38 Chromosome 20, 54173104: 54173104
25 CYP24A1 NM_000782.4(CYP24A1): c.234T> G (p.Gly78=) single nucleotide variant Likely benign rs61755338 GRCh37 Chromosome 20, 52789885: 52789885
26 CYP24A1 NM_000782.4(CYP24A1): c.234T> G (p.Gly78=) single nucleotide variant Likely benign rs61755338 GRCh38 Chromosome 20, 54173346: 54173346
27 CYP24A1 NM_000782.4(CYP24A1): c.101C> T (p.Thr34Met) single nucleotide variant Uncertain significance rs550482750 GRCh38 Chromosome 20, 54173479: 54173479
28 CYP24A1 NM_000782.4(CYP24A1): c.101C> T (p.Thr34Met) single nucleotide variant Uncertain significance rs550482750 GRCh37 Chromosome 20, 52790018: 52790018
29 CYP24A1 NM_000782.4(CYP24A1): c.73C> G (p.Pro25Ala) single nucleotide variant Uncertain significance rs140851407 GRCh38 Chromosome 20, 54173507: 54173507
30 CYP24A1 NM_000782.4(CYP24A1): c.73C> G (p.Pro25Ala) single nucleotide variant Uncertain significance rs140851407 GRCh37 Chromosome 20, 52790046: 52790046
31 CYP24A1 NM_000782.4(CYP24A1): c.-17C> T single nucleotide variant Uncertain significance rs886056790 GRCh38 Chromosome 20, 54173596: 54173596
32 CYP24A1 NM_000782.4(CYP24A1): c.-17C> T single nucleotide variant Uncertain significance rs886056790 GRCh37 Chromosome 20, 52790135: 52790135
33 CYP24A1 NM_000782.4(CYP24A1): c.-76C> T single nucleotide variant Likely benign rs73913755 GRCh38 Chromosome 20, 54173655: 54173655
34 CYP24A1 NM_000782.4(CYP24A1): c.-76C> T single nucleotide variant Likely benign rs73913755 GRCh37 Chromosome 20, 52790194: 52790194
35 CYP24A1 NM_000782.4(CYP24A1): c.*885T> G single nucleotide variant Uncertain significance rs182056037 GRCh38 Chromosome 20, 54153887: 54153887
36 CYP24A1 NM_000782.4(CYP24A1): c.*885T> G single nucleotide variant Uncertain significance rs182056037 GRCh37 Chromosome 20, 52770426: 52770426
37 CYP24A1 NM_000782.4(CYP24A1): c.*872C> T single nucleotide variant Likely benign rs11907350 GRCh38 Chromosome 20, 54153900: 54153900
38 CYP24A1 NM_000782.4(CYP24A1): c.*872C> T single nucleotide variant Likely benign rs11907350 GRCh37 Chromosome 20, 52770439: 52770439
39 CYP24A1 NM_000782.4(CYP24A1): c.*748G> A single nucleotide variant Uncertain significance rs371011704 GRCh38 Chromosome 20, 54154024: 54154024
40 CYP24A1 NM_000782.4(CYP24A1): c.*748G> A single nucleotide variant Uncertain significance rs371011704 GRCh37 Chromosome 20, 52770563: 52770563
41 CYP24A1 NM_000782.4(CYP24A1): c.*698_*699dupGT duplication Uncertain significance rs886056783 GRCh38 Chromosome 20, 54154073: 54154074
42 CYP24A1 NM_000782.4(CYP24A1): c.*698_*699dupGT duplication Uncertain significance rs886056783 GRCh37 Chromosome 20, 52770612: 52770613
43 CYP24A1 NM_000782.4(CYP24A1): c.*51G> A single nucleotide variant Uncertain significance rs552552032 GRCh38 Chromosome 20, 54154721: 54154721
44 CYP24A1 NM_000782.4(CYP24A1): c.*51G> A single nucleotide variant Uncertain significance rs552552032 GRCh37 Chromosome 20, 52771260: 52771260
45 CYP24A1 NM_000782.4(CYP24A1): c.1527C> T (p.Ile509=) single nucleotide variant Likely benign rs61730999 GRCh38 Chromosome 20, 54157197: 54157197
46 CYP24A1 NM_000782.4(CYP24A1): c.1527C> T (p.Ile509=) single nucleotide variant Likely benign rs61730999 GRCh37 Chromosome 20, 52773736: 52773736
47 CYP24A1 NM_000782.4(CYP24A1): c.1449C> T (p.Tyr483=) single nucleotide variant Uncertain significance rs73135773 GRCh38 Chromosome 20, 54157275: 54157275
48 CYP24A1 NM_000782.4(CYP24A1): c.1449C> T (p.Tyr483=) single nucleotide variant Uncertain significance rs73135773 GRCh37 Chromosome 20, 52773814: 52773814
49 CYP24A1 NM_000782.4(CYP24A1): c.1361C> T (p.Pro454Leu) single nucleotide variant Uncertain significance rs886056786 GRCh38 Chromosome 20, 54157461: 54157461
50 CYP24A1 NM_000782.4(CYP24A1): c.1361C> T (p.Pro454Leu) single nucleotide variant Uncertain significance rs886056786 GRCh37 Chromosome 20, 52774000: 52774000

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

Cellular components related to Williams-Beuren Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.28 BAZ1B BUD23 CYP24A1 GTF2I GTF2IRD1 GTF2IRD2

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

# Name GO ID Score Top Affiliating Genes
1 transition between slow and fast fiber GO:0014886 8.62 GTF2I GTF2IRD1

Sources for Williams-Beuren Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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