WBS
MCID: WLL001
MIFTS: 63

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 58 12 54 26 60 38 13 15 39
Williams Syndrome 58 77 25 54 26 55 60 30 56 6 45 41 74
Wbs 58 54 26
Wms 58 54 26
Infantile Hypercalcemia 26 6
Deletion 7q11.23 54 60
Monosomy 7q11.23 54 60
Chromosome 7q11.23 Deletion Syndrome, 1.5- to 1.8-Mb 58
Hypercalcemia-Supravalvar Aortic Stenosis 26
Supravalvar Aortic Stenosis Syndrome 26
Elfin Facies with Hypercalcemia 26
Fanconi Schlesinger Syndrome 12
Williams Syndrome; Wms; Ws 58
Syndrome, Williams-Beuren 41
Elfin Facies Syndrome 26
Beuren Syndrome 26
Ws 26

Characteristics:

Orphanet epidemiological data:

60
williams syndrome
Inheritance: Not applicable; Prevalence: 1-5/10000 (Worldwide),1-9/100000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
williams-beuren syndrome:
Clinical modifier death in early adulthood sudden death
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:1928
OMIM 58 194050
KEGG 38 H01439
MeSH 45 D018980
NCIt 51 C85232
SNOMED-CT 69 63247009
MESH via Orphanet 46 D018980
UMLS via Orphanet 75 C0175702
Orphanet 60 ORPHA904
MedGen 43 C0175702
SNOMED-CT via HPO 70 109245003 111266001 11375002 more
UMLS 74 C0175702

Summaries for Williams-Beuren Syndrome

NINDS : 55 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, chronic constipation and abnormal weight gain. An important gene associated with Williams-Beuren Syndrome is WBS2 (Williams-Beuren Syndrome Type 2). The drugs Hydrocortisone and Hydrocortisone acetate have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and brain, and related phenotypes are depressivity and intellectual disability

Genetics Home Reference : 26 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 : 54 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 : 58 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)

Wikipedia : 77 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 269)
# Related Disease Score Top Affiliating Genes
1 supravalvular aortic stenosis 32.8 ELN GTF2I LIMK1
2 idiopathic infantile hypercalcemia 12.7
3 zori stalker williams syndrome 12.1
4 hypercalcemia, infantile, 1 12.1
5 waldenstrom macroglobulinemia 12.1
6 waardenburg syndrome, type 2e 11.9
7 pectus excavatum, macrocephaly, short stature, and dysplastic nails 11.7
8 werner syndrome 11.7
9 hypercalcemia, infantile, 2 11.6
10 waardenburg's syndrome 11.6
11 waardenburg syndrome, type 3 11.5
12 atypical werner syndrome 11.4
13 tibia, hypoplasia or aplasia of, with polydactyly 11.4
14 macroglobulinemia, waldenstrom 1 11.4
15 weill-marchesani syndrome 11.3
16 weaver syndrome 11.3
17 phosphoserine phosphatase deficiency 11.3
18 chromosome 7q11.23 deletion syndrome, distal, 1.2-mb 11.3
19 beckwith-wiedemann syndrome 11.2
20 7q11.23 duplication syndrome 11.2
21 waardenburg syndrome, type 2b 11.2
22 waardenburg syndrome, type 2c 11.2
23 waardenburg syndrome, type 2d 11.2
24 waardenburg syndrome, type 4b 11.2
25 waardenburg syndrome, type 4c 11.2
26 williams-beuren region duplication syndrome 11.1
27 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 11.1
28 weill-marchesani syndrome 2 11.1
29 weill-marchesani syndrome 3 11.1
30 hairy elbows 11.1
31 waardenburg syndrome, type 2a 11.0
32 waardenburg syndrome, type 4a 11.0
33 cerebellar hypoplasia 11.0
34 alzheimer disease 10.7
35 chromophobe renal cell carcinoma 10.7
36 renal oncocytoma 10.7
37 autism 10.6
38 macroglobulinemia 10.5
39 down syndrome 10.4
40 celiac disease 1 10.4
41 alacrima, achalasia, and mental retardation syndrome 10.4
42 keratoconus 10.4
43 epilepsy 10.4
44 neurofibromatosis, type iv, of riccardi 10.3
45 anxiety 10.3
46 west syndrome 10.3
47 autism spectrum disorder 10.3
48 lymphoma 10.3
49 glucose intolerance 10.3
50 nephrocalcinosis 10.3

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:

60 33 (show top 50) (show all 240)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 60 33 hallmark (90%) Very frequent (99-80%) HP:0000716
2 intellectual disability 60 33 frequent (33%) Very frequent (99-80%) HP:0001249
3 tremor 60 33 hallmark (90%) Very frequent (99-80%) HP:0001337
4 hyperreflexia 60 33 frequent (33%) Very frequent (99-80%) HP:0001347
5 macroglossia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000158
6 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%) HP:0000280
7 macrotia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000400
8 open bite 60 33 hallmark (90%) Very frequent (99-80%) HP:0010807
9 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
10 short nose 60 33 frequent (33%) Very frequent (99-80%) HP:0003196
11 short stature 60 33 frequent (33%) Very frequent (99-80%) HP:0004322
12 long philtrum 60 33 frequent (33%) Very frequent (99-80%) HP:0000343
13 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
14 abdominal pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0002027
15 thick lower lip vermilion 60 33 frequent (33%) Very frequent (99-80%) HP:0000179
16 epicanthus 60 33 frequent (33%) Very frequent (99-80%) HP:0000286
17 everted lower lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000232
18 anxiety 60 33 very rare (1%) Very frequent (99-80%) HP:0000739
19 failure to thrive in infancy 60 33 very rare (1%) Very frequent (99-80%) HP:0001531
20 gait imbalance 60 33 frequent (33%) Very frequent (99-80%) HP:0002141
21 dysmetria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001310
22 protruding ear 60 33 hallmark (90%) Very frequent (99-80%) HP:0000411
23 broad forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000337
24 wide mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000154
25 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
26 narrow face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000275
27 hypercalcemia 60 33 very rare (1%) Very frequent (99-80%) HP:0003072
28 dysgraphia 60 33 hallmark (90%) Very frequent (99-80%) HP:0010526
29 pointed chin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000307
30 high forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000348
31 abnormality of the neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000464
32 blepharophimosis 60 33 frequent (33%) Very frequent (99-80%) HP:0000581
33 hoarse voice 60 33 frequent (33%) Very frequent (99-80%) HP:0001609
34 abnormality of extrapyramidal motor function 60 33 hallmark (90%) Very frequent (99-80%) HP:0002071
35 phonophobia 60 33 frequent (33%) Very frequent (99-80%) HP:0002183
36 abnormality of pelvic girdle bone morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0002644
37 elfin facies 60 33 hallmark (90%) Very frequent (99-80%) HP:0004428
38 hyperacusis 60 33 frequent (33%) Very frequent (99-80%) HP:0010780
39 overfriendliness 60 33 hallmark (90%) Very frequent (99-80%) HP:0100025
40 periorbital edema 60 33 hallmark (90%) Very frequent (99-80%) HP:0100539
41 high hypermetropia 33 hallmark (90%) HP:0008499
42 obesity 60 33 frequent (33%) Frequent (79-30%) HP:0001513
43 genu valgum 60 33 frequent (33%) Frequent (79-30%) HP:0002857
44 osteopenia 60 33 frequent (33%) Occasional (29-5%) HP:0000938
45 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
46 spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0001257
47 nausea and vomiting 60 33 frequent (33%) Frequent (79-30%) HP:0002017
48 constipation 60 33 frequent (33%) Frequent (79-30%) HP:0002019
49 kyphosis 60 33 frequent (33%) Frequent (79-30%) HP:0002808
50 hyperlordosis 60 33 frequent (33%) Frequent (79-30%) HP:0003307

Symptoms via clinical synopsis from OMIM:

58
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 valve prolapse
mitral regurgitation
ventricular septal defect
more
Skeletal Spine:
kyphoscoliosis

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

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

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
Respiratory Larynx:
vocal cord paralysis

Genitourinary Ureters:
vesicoureteral reflux

Skeletal Feet:
hallux valgus

Cardiovascular Vascular:
peripheral pulmonary artery stenosis
systemic hypertension

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:


hyperacusis, chronic constipation, abnormal weight gain

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

27
# 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 127)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
2
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
3
Sodium Citrate Approved, Investigational Phase 4 68-04-2
4
Polidocanol Approved Phase 4 9002-92-0
5
Ethanol Approved Phase 4,Not Applicable 64-17-5 702
6
Tocopherol Approved, Investigational Phase 4,Early Phase 1 1406-66-2 14986
7
Kinetin Approved Phase 4 525-79-1 3830
8
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
9
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
10
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
11
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
12
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Early Phase 1 59-02-9 14985
13 Tocotrienol Investigational Phase 4,Early Phase 1 6829-55-6
14 Aloe Phase 4
15 Hydrocortisone-17-butyrate Phase 4
16 Hydrocortisone 17-butyrate 21-propionate Phase 4
17 Hydrocortisone hemisuccinate Phase 4
18 Anti-Inflammatory Agents Phase 4
19 Citrate Phase 4
20 Soy Bean Phase 4
21 Carbopol 940 Phase 4
22 Tocopherols Phase 4,Early Phase 1
23 Tocotrienols Phase 4,Early Phase 1
24 Mitogens Phase 4
25 Phytosterol Phase 4
26 Estrogens Phase 4,Not Applicable
27 Hormones Phase 4,Not Applicable
28 Hormone Antagonists Phase 4,Not Applicable
29 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Not Applicable
30 Estrogens, Conjugated (USP) Phase 4
31 Central Nervous System Depressants Phase 4,Not Applicable
32 Dopamine Uptake Inhibitors Phase 4
33 Psychotropic Drugs Phase 4
34 Neurotransmitter Agents Phase 4
35 Dopamine Antagonists Phase 4
36 Serotonin Antagonists Phase 4
37 Neurotransmitter Uptake Inhibitors Phase 4
38 Central Nervous System Stimulants Phase 4
39 Dopamine Agents Phase 4
40 Tranquilizing Agents Phase 4
41 Antipsychotic Agents Phase 4
42 Serotonin Agents Phase 4
43
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
44
Angiotensin II Approved, Investigational Phase 3 11128-99-7, 68521-88-0, 4474-91-3 172198
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 Receptor Antagonists Phase 3
49 Giapreza Phase 3
50 Antihypertensive Agents Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 74)
# 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 Hormonal Status on Blood Flow and Tissue in Pelvic Organ Prolapse Recruiting NCT01886794 Phase 4 Postmenopausal, topical vaginal cream;Placebo Comparator: Postmenopausal, topical placebo cream
7 A Comparison of OASIS Wound Matrix With Approved Dressings for Skin Graft Donor Sites Withdrawn NCT02994589 Phase 4
8 The Potential of Candesartan to Retard the Progression of Aortic Stenosis Unknown status NCT00699452 Phase 3 candesartan;placebo
9 Application of Cultured Autologous Keratinocytes for Burn Wound Healing Completed NCT00832156 Phase 3
10 Dermal Substitute and Topical Negative Pressure in Burns Completed NCT00548314 Phase 3
11 Efficacy of Collagen-elastin Dermal Substitute in the Treatment of Loss of Cutaneous Substances With Skin Grafts Recruiting NCT02090361 Phase 3
12 Glyaderm Clinical Evaluation Multicenter Study Terminated NCT01616043 Phase 3
13 Ligasure II: Standard Stapling Versus Ligasure Terminated NCT01349426 Phase 3
14 Safety Study of CTX-100 Inhalation Solution (Formerly ETX-100) Unknown status NCT00993707 Phase 2 CTX-100 (formerly ETX-100) (hyaluronic acid)
15 Efficacy of Minoxidil in Children With Williams-Beuren Syndrome Completed NCT00876200 Phase 2 Minoxidil;Placebo
16 Split-face Comparison Study to Assess ELAPR Compared to Juvéderm® for the Treatment of Nasolabial Folds Completed NCT01463657 Phase 1, Phase 2
17 Effect of Double Dose of Alpha 1-antitrypsin Augmentation Therapy on Lung Inflammation. Completed NCT01669421 Phase 2 Alpha-1 Antitrypsin (human)
18 Safety Study of Bone Marrow Derived Stem Cells on Patients With Cutaneous Photoaging Suspended NCT01771679 Phase 1, Phase 2
19 Safety Study of Three Formulations of the Dermal Implant ELAPR Completed NCT01467778 Phase 1
20 Two Formulations of ELAPR Compared to Restylane® Vital Light Following Repeat Implants in the Upper Arm Dermis Completed NCT01466413 Phase 1
21 A Study to Evaluate the Efficacy of ELAPR in Women With Striae Distensae Alba Completed NCT02510768 Phase 1
22 Using Autologous Platelet Rich Plasma (PRP) Gel to Treat Deep 2nd and 3rd Degree Burns Active, not recruiting NCT01843686 Phase 1
23 Influence of Statins in Artery Aneurysms Unknown status NCT03061487
24 Potential Biomarkers for Early Diagnosis of Acute Aortic Dissection Unknown status NCT01860768
25 EnSeal Efficacy and Bursting Pressure in Human Vessels Unknown status NCT01312246 Not Applicable
26 Pre-operative Diet: Effect of Wound Healing After Bariatric Surgery Unknown status NCT01950052 Not Applicable
27 Fat Distribution and Glucose Metabolism in Williams Syndrome Completed NCT01864304
28 Response Inhibition Training for Children With Williams Syndrome Completed NCT02212314 Not Applicable
29 WS-SAVE Study (Williams Syndrome Skin and Vessel Elasticity Study) Completed NCT02692846
30 Vitamin D Metabolism and the Williams Syndrome Completed NCT00013962 Vitamin D
31 Evaluating Genetic Factors That May Contribute to Elastin Function and the Development of Chronic Obstructive Pulmonary Disease Completed NCT00725309
32 A Study to Evaluate the Efficacy of ELAPR002f in Females and Males With Atrophic Acne Scars Completed NCT03056235 Not Applicable
33 Ancillary T Cell Based Studies in SPIROMICS Completed NCT02036190
34 Alterations in Connective Tissue in Patients With or Without Pelvic Organ Prolapse Completed NCT01749696
35 The Effects of Microdermabrasion on Skin Remodeling Completed NCT00111254 Not Applicable
36 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
37 Assessing the Effects of Tretinoin Cream on Human Skin With Optical Imaging Technologies Completed NCT02410980 Early Phase 1 Tretinoin cream 0.1%
38 Mechanisms of Skin Repair by Topical Estrogen Completed NCT00113100 Not Applicable Topical 17-beta estradiol in ethanol/propylene glycol (ETOH/PG)
39 Evaluation of Safety and Efficacy of Micro-coring Device for Treatment of Facial Wrinkles and Skin Laxity Completed NCT03228641 Not Applicable
40 Biomarkers of Injury and Destruction in the Cystic Fibrosis Lung Completed NCT01805713
41 Study of the Pathobiology of Bronchopulmonary Dysplasia in Newborns Completed NCT00006058
42 Efficacy and Tolerance Evaluation of an Amino Acid Food Supplement Completed NCT03801343 Not Applicable
43 FDG-PET Imaging in Young Cystic Fibrosis Patients Completed NCT00846053 Not Applicable
44 Influence of of Cream With the Silver Fir Wood Extract (Belinal) on Skin Completed NCT02603029 Not Applicable
45 Investigation of the Pain Relieving Properties of Lipotransplantation After Treatment for Breast Cancer Completed NCT01888419 Not Applicable
46 Identification of Genetic Markers for Cardiopulmonary Diseases (Genotype) Completed NCT00616369
47 A Study Using Fractional Carbon Dioxide and Long Pulsed Neodymium-yttrium Aluminum Garnet Lasers in Treatment of Keloids Completed NCT03460431 Not Applicable
48 Histological Study to Evaluate Skin Changes After PicoWay® 1064 nm and 532nm Picosecond Fractional Laser Treatment Completed NCT02700204 Not Applicable
49 Assessment of the Impact of a Coenzyme Q10 Supplementation on the Skin Completed NCT02604641 Not Applicable
50 Fat Grafting in Skin-grafted Deep Burn Scars Completed NCT03627650 Not Applicable

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 30 ELN MLXIPL

Anatomical Context for Williams-Beuren Syndrome

MalaCards organs/tissues related to Williams-Beuren Syndrome:

42
Skin, Eye, Brain, Thyroid, Kidney, Ovary, T Cells

Publications for Williams-Beuren Syndrome

Articles related to Williams-Beuren Syndrome:

(show top 50) (show all 1474)
# Title Authors Year
1
Short report: Relationships between sensory processing, repetitive behaviors, anxiety, and intolerance of uncertainty in autism spectrum disorder and Williams syndrome. ( 30919599 )
2019
2
Comparing parental stress of children with neurodevelopmental disorders: The case of Williams syndrome, Down syndrome and autism spectrum disorders. ( 30950174 )
2019
3
Maternal Interactive Behaviours in Parenting Children with Williams Syndrome and Autism Spectrum Disorder: Relations with Emotional/Behavioural Problems. ( 30143949 )
2019
4
Cardiac arrest after induction of anesthesia in a 2-month-old infant with undiagnosed Williams syndrome. ( 30971606 )
2019
5
Bone involvement and mineral metabolism in Williams' syndrome. ( 30030744 )
2019
6
Integrative network analysis reveals biological pathways associated with Williams syndrome. ( 30362171 )
2019
7
Oral characteristics and medical considerations in the dental treatment of individuals with Williams syndrome. ( 30707461 )
2019
8
Physical growth and development characteristics of children with Williams syndrome aged 0-24 months in Zhejiang Province. ( 30710484 )
2019
9
Extending the positive bias in Williams syndrome: The influence of biographical information on attention allocation. ( 30728089 )
2019
10
Williams Syndrome. ( 30811742 )
2019
11
Outcomes of pulmonary artery reconstruction in Williams syndrome. ( 30885853 )
2019
12
Williams Syndrome, Human Self-Domestication, and Language Evolution. ( 30936846 )
2019
13
Sudden cardiac death associated with cardiac catheterization in Williams syndrome: a case report and review of literature. ( 30950363 )
2019
14
Robust Candidates for Language Development and Evolution Are Significantly Dysregulated in the Blood of People With Williams Syndrome. ( 30971880 )
2019
15
A surprising role for myelin in Williams syndrome. ( 31011225 )
2019
16
Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioral and myelin alterations rescuable by a remyelinating drug. ( 31011227 )
2019
17
Cognition in adults with Williams syndrome-A 20-year follow-up study. ( 31033253 )
2019
18
Remyelinating drug to the rescue in a Williams syndrome model. ( 31065076 )
2019
19
A method for determining haploid and triploid genotypes and their association with vascular phenotypes in Williams syndrome and 7q11.23 duplication syndrome. ( 29614955 )
2018
20
Brief Report: The Impact of Sensory Hypersensitivity and Intolerance of Uncertainty on Anxiety in Williams Syndrome. ( 29948532 )
2018
21
Neurodevelopmental Disorders Affecting Sociability: Recent Research Advances and Future Directions in Autism Spectrum Disorder and Williams Syndrome. ( 30328520 )
2018
22
Parental views on special educational needs provision: Cross-syndrome comparisons in Williams Syndrome, Down Syndrome, and Autism Spectrum Disorders. ( 29981951 )
2018
23
Consistent hypersocial behavior in mice carrying a deletion of Gtf2i but no evidence of hyposocial behavior with Gtf2i duplication: Implications for Williams-Beuren syndrome and autism spectrum disorder. ( 29568691 )
2018
24
Williams-Beuren Syndrome as a Potential Risk Factor for Burkitt Lymphoma. ( 30233648 )
2018
25
Cardiac arrest related to anaesthesia in Williams-Beuren syndrome. ( 29246395 )
2018
26
Quantifier comprehension is linked to linguistic rather than to numerical skills. Evidence from children with Down syndrome and Williams syndrome. ( 29949641 )
2018
27
Kawasaki Disease in a Patient With Williams Syndrome. ( 29793379 )
2018
28
Brief Report: Major Depressive Disorder with Psychotic Features in Williams Syndrome: A Case Series. ( 29164439 )
2018
29
Acute renal failure due to severe hypercalcemia and nephrocalcinosis treated with two doses of pamidronate in an infant with Williams-Beuren syndrome. ( 30325132 )
2018
30
Endocrine manifestations in children with Williams-Beuren syndrome. ( 29266477 )
2018
31
Oral findings in Williams-Beuren syndrome. ( 29274148 )
2018
32
A novel dNTP-limited PCR and HRM assay to detect Williams-Beuren syndrome. ( 29550276 )
2018
33
Epigallocatechin-3-gallate improves cardiac hypertrophy and short-term memory deficits in a Williams-Beuren syndrome mouse model. ( 29554110 )
2018
34
Williams-Beuren syndrome in diverse populations. ( 29681090 )
2018
35
Activity of Genes with Functions in Human Williams-Beuren Syndrome Is Impacted by Mobile Element Insertions in the Gray Wolf Genome. ( 29860323 )
2018
36
NMR assignments of the WBSCR27 protein related to Williams-Beuren syndrome. ( 29868988 )
2018
37
Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior. ( 30008175 )
2018
38
Genotype-phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams-Beuren syndrome. ( 30155880 )
2018
39
Oral prednisolone for management of persistent hypercalcemia afterhypercalcemic crisis in the Williams-Beuren syndrome. ( 30300432 )
2018
40
Clinical application of chromosomal microarray analysis for the diagnosis of Williams-Beuren syndrome in Chinese Han patients. ( 30565396 )
2018
41
Diagnosis and management of systemic hypertension due to renovascular and aortic stenosis in patients with Williams-Beuren syndrome. ( 30673043 )
2018
42
Associations Between Social Functioning, ADHD Symptomatology, and Emotion Functioning in Children With Autism Spectrum Disorder and Williams Syndrome. ( 29229231 )
2018
43
Autism Spectrum Symptomatology in Children with Williams Syndrome Who Have Phrase Speech or Fluent Language. ( 29671106 )
2018
44
Reduced Motor Interference in Preschoolers with Autism Spectrum Disorder and Williams Syndrome. ( 30321065 )
2018
45
A Novel Imaging Finding in Williams Syndrome: The Coral Sign. ( 29736793 )
2018
46
Pamidronate Rescue Therapy for Hypercalcemia in a Child With Williams Syndrome. ( 29867772 )
2018
47
Williams Syndrome neuroanatomical score associates with GTF2IRD1 in large-scale magnetic resonance imaging cohorts: a proof of concept for multivariate endophenotypes. ( 29884845 )
2018
48
Medical, Cognitive, and Psychiatric Characteristics in a Large Israeli Cohort of Individuals with Williams Syndrome. ( 29911759 )
2018
49
Cognitive and behavioral profile of Williams Syndrome toddlers. ( 30043830 )
2018
50
Cardiovascular disease in Williams syndrome. ( 30045083 )
2018

Variations for Williams-Beuren Syndrome

ClinVar genetic disease variations for Williams-Beuren Syndrome:

6 (show top 50) (show all 142)
# 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 ELN NM_001278939.1(ELN): c.647G> T (p.Gly216Val) single nucleotide variant Uncertain significance rs145612009 GRCh37 Chromosome 7, 73462008: 73462008
4 ELN NM_001278939.1(ELN): c.647G> T (p.Gly216Val) single nucleotide variant Uncertain significance rs145612009 GRCh38 Chromosome 7, 74047678: 74047678
5 CYP24A1 NM_000782.4(CYP24A1): c.1124C> T (p.Pro375Leu) single nucleotide variant Uncertain significance rs189801930 GRCh38 Chromosome 20, 54158990: 54158990
6 CYP24A1 NM_000782.4(CYP24A1): c.*1095C> G single nucleotide variant Uncertain significance rs886056780 GRCh37 Chromosome 20, 52770216: 52770216
7 CYP24A1 NM_000782.4(CYP24A1): c.*1095C> G single nucleotide variant Uncertain significance rs886056780 GRCh38 Chromosome 20, 54153677: 54153677
8 CYP24A1 NM_000782.4(CYP24A1): c.*715C> G single nucleotide variant Benign rs6022987 GRCh38 Chromosome 20, 54154057: 54154057
9 CYP24A1 NM_000782.4(CYP24A1): c.*715C> G single nucleotide variant Benign rs6022987 GRCh37 Chromosome 20, 52770596: 52770596
10 CYP24A1 NM_000782.4(CYP24A1): c.*140T> C single nucleotide variant Benign rs4809957 GRCh38 Chromosome 20, 54154632: 54154632
11 CYP24A1 NM_000782.4(CYP24A1): c.*140T> C single nucleotide variant Benign rs4809957 GRCh37 Chromosome 20, 52771171: 52771171
12 CYP24A1 NM_000782.4(CYP24A1): c.1124C> T (p.Pro375Leu) single nucleotide variant Uncertain significance rs189801930 GRCh37 Chromosome 20, 52775529: 52775529
13 CYP24A1 NM_000782.4(CYP24A1): c.991-9G> A single nucleotide variant Uncertain significance rs886056787 GRCh37 Chromosome 20, 52775671: 52775671
14 CYP24A1 NM_000782.4(CYP24A1): c.991-9G> A single nucleotide variant Uncertain significance rs886056787 GRCh38 Chromosome 20, 54159132: 54159132
15 CYP24A1 NM_000782.4(CYP24A1): c.776T> C (p.Leu259Pro) single nucleotide variant Uncertain significance rs373902459 GRCh37 Chromosome 20, 52781059: 52781059
16 CYP24A1 NM_000782.4(CYP24A1): c.776T> C (p.Leu259Pro) single nucleotide variant Uncertain significance rs373902459 GRCh38 Chromosome 20, 54164520: 54164520
17 CYP24A1 NM_000782.4(CYP24A1): c.744G> A (p.Thr248=) single nucleotide variant Benign rs6068816 GRCh37 Chromosome 20, 52781091: 52781091
18 CYP24A1 NM_000782.4(CYP24A1): c.744G> A (p.Thr248=) single nucleotide variant Benign rs6068816 GRCh38 Chromosome 20, 54164552: 54164552
19 CYP24A1 NM_000782.4(CYP24A1): c.695G> A (p.Gly232Glu) single nucleotide variant Uncertain significance rs552660376 GRCh37 Chromosome 20, 52782318: 52782318
20 CYP24A1 NM_000782.4(CYP24A1): c.695G> A (p.Gly232Glu) single nucleotide variant Uncertain significance rs552660376 GRCh38 Chromosome 20, 54165779: 54165779
21 CYP24A1 NM_000782.4(CYP24A1): c.577C> A (p.Leu193Ile) single nucleotide variant Uncertain significance rs377696502 GRCh37 Chromosome 20, 52786194: 52786194
22 CYP24A1 NM_000782.4(CYP24A1): c.577C> A (p.Leu193Ile) single nucleotide variant Uncertain significance rs377696502 GRCh38 Chromosome 20, 54169655: 54169655
23 CYP24A1 NM_000782.4(CYP24A1): c.295A> G (p.Met99Val) single nucleotide variant Uncertain significance rs886056789 GRCh37 Chromosome 20, 52789602: 52789602
24 CYP24A1 NM_000782.4(CYP24A1): c.295A> G (p.Met99Val) single nucleotide variant Uncertain significance rs886056789 GRCh38 Chromosome 20, 54173063: 54173063
25 CYP24A1 NM_000782.4(CYP24A1): c.259-5T> C single nucleotide variant Uncertain significance rs372360343 GRCh37 Chromosome 20, 52789643: 52789643
26 CYP24A1 NM_000782.4(CYP24A1): c.259-5T> C single nucleotide variant Uncertain significance rs372360343 GRCh38 Chromosome 20, 54173104: 54173104
27 CYP24A1 NM_000782.4(CYP24A1): c.234T> G (p.Gly78=) single nucleotide variant Likely benign rs61755338 GRCh37 Chromosome 20, 52789885: 52789885
28 CYP24A1 NM_000782.4(CYP24A1): c.234T> G (p.Gly78=) single nucleotide variant Likely benign rs61755338 GRCh38 Chromosome 20, 54173346: 54173346
29 CYP24A1 NM_000782.4(CYP24A1): c.101C> T (p.Thr34Met) single nucleotide variant Uncertain significance rs550482750 GRCh38 Chromosome 20, 54173479: 54173479
30 CYP24A1 NM_000782.4(CYP24A1): c.101C> T (p.Thr34Met) single nucleotide variant Uncertain significance rs550482750 GRCh37 Chromosome 20, 52790018: 52790018
31 CYP24A1 NM_000782.4(CYP24A1): c.73C> G (p.Pro25Ala) single nucleotide variant Uncertain significance rs140851407 GRCh38 Chromosome 20, 54173507: 54173507
32 CYP24A1 NM_000782.4(CYP24A1): c.73C> G (p.Pro25Ala) single nucleotide variant Uncertain significance rs140851407 GRCh37 Chromosome 20, 52790046: 52790046
33 CYP24A1 NM_000782.4(CYP24A1): c.-17C> T single nucleotide variant Uncertain significance rs886056790 GRCh38 Chromosome 20, 54173596: 54173596
34 CYP24A1 NM_000782.4(CYP24A1): c.-17C> T single nucleotide variant Uncertain significance rs886056790 GRCh37 Chromosome 20, 52790135: 52790135
35 CYP24A1 NM_000782.4(CYP24A1): c.-76C> T single nucleotide variant Likely benign rs73913755 GRCh38 Chromosome 20, 54173655: 54173655
36 CYP24A1 NM_000782.4(CYP24A1): c.-76C> T single nucleotide variant Likely benign rs73913755 GRCh37 Chromosome 20, 52790194: 52790194
37 CYP24A1 NM_000782.4(CYP24A1): c.*885T> G single nucleotide variant Uncertain significance rs182056037 GRCh38 Chromosome 20, 54153887: 54153887
38 CYP24A1 NM_000782.4(CYP24A1): c.*885T> G single nucleotide variant Uncertain significance rs182056037 GRCh37 Chromosome 20, 52770426: 52770426
39 CYP24A1 NM_000782.4(CYP24A1): c.*872C> T single nucleotide variant Likely benign rs11907350 GRCh38 Chromosome 20, 54153900: 54153900
40 CYP24A1 NM_000782.4(CYP24A1): c.*872C> T single nucleotide variant Likely benign rs11907350 GRCh37 Chromosome 20, 52770439: 52770439
41 CYP24A1 NM_000782.4(CYP24A1): c.*748G> A single nucleotide variant Uncertain significance rs371011704 GRCh38 Chromosome 20, 54154024: 54154024
42 CYP24A1 NM_000782.4(CYP24A1): c.*748G> A single nucleotide variant Uncertain significance rs371011704 GRCh37 Chromosome 20, 52770563: 52770563
43 CYP24A1 NM_000782.4(CYP24A1): c.*698_*699dupGT duplication Uncertain significance rs147124541 GRCh38 Chromosome 20, 54154073: 54154074
44 CYP24A1 NM_000782.4(CYP24A1): c.*698_*699dupGT duplication Uncertain significance rs147124541 GRCh37 Chromosome 20, 52770612: 52770613
45 CYP24A1 NM_000782.4(CYP24A1): c.*51G> A single nucleotide variant Uncertain significance rs552552032 GRCh38 Chromosome 20, 54154721: 54154721
46 CYP24A1 NM_000782.4(CYP24A1): c.*51G> A single nucleotide variant Uncertain significance rs552552032 GRCh37 Chromosome 20, 52771260: 52771260
47 CYP24A1 NM_000782.4(CYP24A1): c.1527C> T (p.Ile509=) single nucleotide variant Likely benign rs61730999 GRCh38 Chromosome 20, 54157197: 54157197
48 CYP24A1 NM_000782.4(CYP24A1): c.1527C> T (p.Ile509=) single nucleotide variant Likely benign rs61730999 GRCh37 Chromosome 20, 52773736: 52773736
49 CYP24A1 NM_000782.4(CYP24A1): c.1449C> T (p.Tyr483=) single nucleotide variant Uncertain significance rs73135773 GRCh38 Chromosome 20, 54157275: 54157275
50 CYP24A1 NM_000782.4(CYP24A1): c.1449C> T (p.Tyr483=) single nucleotide variant Uncertain significance rs73135773 GRCh37 Chromosome 20, 52773814: 52773814

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 transition between fast and slow fiber GO:0014883 8.62 GTF2IRD2 GTF2IRD2B

Sources for Williams-Beuren Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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