MCID: WLL001
MIFTS: 62

Williams-Beuren Syndrome

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

Aliases & Classifications for Williams-Beuren Syndrome

MalaCards integrated aliases for Williams-Beuren Syndrome:

Name: Williams-Beuren Syndrome 54 12 23 50 24 25 56 13 14 38
Williams Syndrome 72 23 50 24 25 51 56 29 52 42 69
Deletion 7q11.23 50 56
Monosomy 7q11.23 50 56
Wms 50 25
Wbs 50 25
Hypercalcemia-Supravalvar Aortic Stenosis 25
Supravalvar Aortic Stenosis Syndrome 25
Elfin Facies with Hypercalcemia 25
Fanconi Schlesinger Syndrome 12
Infantile Hypercalcemia 25
Elfin Facies Syndrome 25
Beuren Syndrome 25
Ws 25

Characteristics:

Orphanet epidemiological data:

56
williams syndrome
Inheritance: Not applicable; Prevalence: 1-5/10000 (Worldwide),1-9/100000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

54
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 sudden death death in early adulthood
Inheritance autosomal dominant inheritance


GeneReviews:

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

Classifications:



External Ids:

OMIM 54 194050
Disease Ontology 12 DOID:1928
MeSH 42 D018980
NCIt 47 C85232
SNOMED-CT 64 63247009
Orphanet 56 ORPHA904
MESH via Orphanet 43 D018980
UMLS via Orphanet 70 C0175702
ICD10 via Orphanet 34 Q87.8
SNOMED-CT via HPO 65 263681008 197927001 197866008 more
UMLS 69 C0175702

Summaries for Williams-Beuren Syndrome

NINDS : 51 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 autosomal recessive infantile hypercalcemia and zori stalker williams syndrome, and has symptoms including short stature, scoliosis and visual impairment. 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 heart, skin and eye, and related phenotype is Decreased free cholesterol.

NIH Rare Diseases : 50 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

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.

OMIM : 54
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 : 72 Williams syndrome (WS) is a developmental disorder that affects many parts of the body. Facial features... more...

GeneReviews: NBK1249

Related Diseases for Williams-Beuren Syndrome

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

(show top 50) (show all 85)
id Related Disease Score Top Affiliating Genes
1 autosomal recessive infantile hypercalcemia 12.0
2 zori stalker williams syndrome 11.8
3 werner syndrome 11.7
4 waardenburg syndrome, type 2e, with or without neurologic involvement 11.6
5 supravalvar aortic stenosis 11.5
6 lymphoplasmacytic lymphoma 11.2
7 waldenstrom macroglobulinemia 11.1
8 atypical werner syndrome 11.1
9 macroglobulinemia, waldenstrom 1 11.1
10 weill-marchesani syndrome 11.0
11 hypercalcemia, infantile, 1 11.0
12 hypercalcemia, infantile, 2 11.0
13 7q11.23 duplication syndrome 11.0
14 chromosome 7q11.23 deletion syndrome, distal, 1.2-mb 10.9
15 waardenburg's syndrome 10.9
16 hypercalcemia, infantile 10.9
17 waardenburg syndrome, type 4c 10.8
18 waardenburg syndrome, type 2c 10.8
19 waardenburg syndrome, type 2d 10.8
20 waardenburg syndrome, type 2b 10.8
21 waardenburg syndrome, type 4b 10.8
22 williams-beuren region duplication syndrome 10.8
23 hypoplastic or aplastic tibia with polydactyly 10.8
24 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 10.8
25 weill-marchesani syndrome 3, recessive 10.8
26 weill-marchesani syndrome 2, dominant 10.8
27 waardenburg syndrome, type 4a 10.7
28 waardenburg syndrome, type 3 10.7
29 waardenburg syndrome, type 2a 10.7
30 alzheimer disease 10.4
31 chromophobe renal cell carcinoma 10.4
32 renal oncocytoma 10.4
33 cutis laxa, autosomal dominant 10.4 ELN GTF2I LIMK1
34 macroglobulinemia 10.2
35 cardiomyopathy 10.2
36 intellectual disability 10.2
37 keratoconus 10.2
38 epilepsy 10.2
39 celiac disease 10.1
40 autism spectrum disorder 10.1
41 lymphoma 10.1
42 autistic disorder 10.1
43 achalasia 10.1
44 hypothyroidism 10.1
45 down syndrome 9.9
46 precocious puberty 9.9
47 myopathy 9.9
48 strabismus 9.9
49 fragile x syndrome 9.9
50 scoliosis 9.9

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:

54

Growth- Height:
short stature

Neurologic- Central Nervous System:
hypotonia
poor coordination
mental retardation (average iq 56)
relative sparing of language
poor visual-motor integration (range 41-80)
more
Head And Neck- Eyes:
strabismus
stellate pattern of iris
altered visual acuity

Genitourinary- Bladder:
recurrent urinary tract infections
enuresis
urethral stenosis
bladder diverticula
voiding frequency/urgency
more
Head And Neck- Nose:
depressed nasal bridge
anteverted nares

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

Skeletal- Spine:
kyphoscoliosis

Abdomen- External Features:
inguinal hernia

Genitourinary- Ureters:
vesicoureteral reflux

Growth- Other:
intrauterine growth retardation (iugr)

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- Behavioral Psychiatric Manifestations:
anxiety
attention deficit disorder
friendly personality
gregarious
cocktail party personality
more
Skin Nails & Hair- Skin:
soft skin
decreased skin stiffness
easier stretching
increased wrinkles
abnormal scarring
more
Cardiovascular- Vascular:
peripheral pulmonary artery stenosis
systemic hypertension

Voice:
harsh, brassy, or hoarse voice

Skeletal:
joint contractures
joint laxity
osteoporosis
osteopenia

Skin Nails & Hair- Nails:
hypoplastic nails

Genitourinary- Kidneys:
nephrocalcinosis
renal insufficiency
small kidneys
renal artery stenosis
solitary kidney
more
Head And Neck- Face:
epicanthal folds
flat midface
long philtrum
medial eyebrow flare
periorbital fullness (puffy eyes)

Head And Neck- Mouth:
thick lips

Cardiovascular- Heart:
atrial septal defect
ventricular septal defect
mitral valve prolapse
pulmonary valve stenosis
bicuspid aortic valve
more
Abdomen- Gastroin testinal:
gastroesophageal reflux
chronic constipation
difficulty feeding
diverticulosis
colic
more
Chest- Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Head And Neck- Teeth:
hypodontia
microdontia

Skeletal- Feet:
hallux valgus

Respiratory- Larynx:
vocal cord paralysis

Skin Nails & Hair- Hair:
premature graying

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:

56 32 (show top 50) (show all 233)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Very frequent (99-80%) HP:0004322
2 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
3 visual impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000505
4 macroglossia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000158
5 dysarthria 56 32 occasional (7.5%) Occasional (29-5%) HP:0001260
6 recurrent respiratory infections 56 32 occasional (7.5%) Occasional (29-5%) HP:0002205
7 tremor 56 32 hallmark (90%) Very frequent (99-80%) HP:0001337
8 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
9 wide mouth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000154
10 umbilical hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001537
11 myopia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000545
12 nephrolithiasis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000787
13 nephrocalcinosis 56 32 very rare (1%) Occasional (29-5%) HP:0000121
14 recurrent urinary tract infections 56 32 frequent (33%) Occasional (29-5%) HP:0000010
15 hypercalciuria 56 32 very rare (1%) Frequent (79-30%) HP:0002150
16 hyperreflexia 56 32 frequent (33%) Very frequent (99-80%) HP:0001347
17 spasticity 56 32 frequent (33%) Frequent (79-30%) HP:0001257
18 high forehead 56 32 hallmark (90%) Very frequent (99-80%) HP:0000348
19 microcephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000252
20 proteinuria 56 32 frequent (33%) Frequent (79-30%) HP:0000093
21 micrognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000347
22 coarse facial features 56 32 hallmark (90%) Very frequent (99-80%) HP:0000280
23 cardiomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001640
24 joint laxity 56 32 frequent (33%) Occasional (29-5%) HP:0001388
25 kyphosis 56 32 frequent (33%) Frequent (79-30%) HP:0002808
26 patent ductus arteriosus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001643
27 glaucoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000501
28 megalocornea 56 32 occasional (7.5%) Occasional (29-5%) HP:0000485
29 short nose 56 32 frequent (33%) Very frequent (99-80%) HP:0003196
30 osteoporosis 56 32 frequent (33%) Occasional (29-5%) HP:0000939
31 hypertrophic cardiomyopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0001639
32 renal insufficiency 56 32 frequent (33%) Frequent (79-30%) HP:0000083
33 hypoplastic toenails 56 32 frequent (33%) Frequent (79-30%) HP:0001800
34 gastroesophageal reflux 56 32 frequent (33%) Occasional (29-5%) HP:0002020
35 cryptorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000028
36 genu valgum 56 32 frequent (33%) Frequent (79-30%) HP:0002857
37 depression 56 32 hallmark (90%) Very frequent (99-80%) HP:0000716
38 broad forehead 56 32 hallmark (90%) Very frequent (99-80%) HP:0000337
39 inguinal hernia 56 32 occasional (7.5%) Frequent (79-30%) HP:0000023
40 intellectual disability 56 32 frequent (33%) Very frequent (99-80%) HP:0001249
41 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
42 ventricular septal defect 56 32 occasional (7.5%) Occasional (29-5%) HP:0001629
43 tetralogy of fallot 56 32 occasional (7.5%) Occasional (29-5%) HP:0001636
44 autism 56 32 frequent (33%) Frequent (79-30%) HP:0000717
45 myopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0003198
46 long philtrum 56 32 frequent (33%) Very frequent (99-80%) HP:0000343
47 cerebral cortical atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0002120
48 wide nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000431
49 pulmonic stenosis 56 32 frequent (33%) Frequent (79-30%) HP:0001642
50 pectus excavatum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000767

UMLS symptoms related to Williams-Beuren Syndrome:


hyperacusis, joint laxity, abnormal weight gain, chronic constipation

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

26
id 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 111)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754 657311
2
Ethanol Approved Phase 4 64-17-5 702
3
Glycerol Approved, Investigational Phase 4,Phase 3 56-81-5 753
4
Kinetin Approved Phase 4 525-79-1 3830
5
Polidocanol Approved Phase 4 9002-92-0
6
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
7
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
8
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
9 Tocopherol Approved, Nutraceutical Phase 4
10
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
11
Butyric Acid Experimental 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
Citric Acid Nutraceutical, Vet_approved Phase 4 77-92-9 311
42 Phytosterol Nutraceutical Phase 4
43 Soy Bean Nutraceutical Phase 4
44 Tocotrienol Investigational, Nutraceutical Phase 4 6829-55-6
45
Candesartan Approved Phase 3 139481-59-7 2541
46
Angiotensin II Investigational Phase 3 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
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)

id 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 Evaluation of a 'Hand-held' Fluorescence Digital Imaging Device for Real-Time Advanced Wound Care Monitoring (JDRTC/UHN) Unknown status NCT01651845
23 Fat Distribution and Glucose Metabolism in Williams Syndrome Completed NCT01864304
24 Response Inhibition Training for Children With Williams Syndrome Completed NCT02212314
25 Vitamin D Metabolism and the Williams Syndrome Completed NCT00013962 Vitamin D
26 The Effects of Microdermabrasion on Skin Remodeling Completed NCT00111254
27 Alterations in Connective Tissue in Patients With or Without Pelvic Organ Prolapse Completed NCT01749696
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 Study of the Pathobiology of Bronchopulmonary Dysplasia in Newborns Completed NCT00006058
33 Identification of Genetic Markers for Cardiopulmonary Diseases (Genotype) Completed NCT00616369
34 Investigation of the Pain Relieving Properties of Lipotransplantation After Treatment for Breast Cancer Completed NCT01888419
35 Impact of Elastin Mediated Vascular Stiffness on End Organs Recruiting NCT02840448
36 Defining the Brain Phenotype of Children With Williams Syndrome Recruiting NCT01132885
37 WS-SAVE Study (Williams Syndrome Skin and Vessel Elasticity Study) Recruiting NCT02692846
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 A Study to Evaluate the Efficacy of ELAPR002f and ELAPR002g in Females and Males With Atrophic Acne Scars Recruiting NCT03056235
42 Influence of Statins in Artery Aneurysms Recruiting NCT03061487
43 Hormonal Status on Blood Flow and Tissue in Pelvic Organ Prolapse Recruiting NCT01886794 Topical Vaginal Estrogen Cream/placebo
44 Biomarkers of Injury and Destruction in the Cystic Fibrosis Lung Recruiting NCT01805713
45 Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic Imaging Recruiting NCT02538822
46 ELectrosurgical Bipolar Devices VS Convention Electronicautery Recruiting NCT03166384
47 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
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:

id Genetic test Affiliating Genes
1 Williams Syndrome 29 24 ELN

Anatomical Context for Williams-Beuren Syndrome

MalaCards organs/tissues related to Williams-Beuren Syndrome:

39
Heart, Skin, Eye, Bone, Kidney, Brain, Colon

Publications for Williams-Beuren Syndrome

Articles related to Williams-Beuren Syndrome:

(show top 50) (show all 310)
id Title Authors Year
1
DNA damage response defect in Williams-Beuren syndrome. ( 28098859 )
2017
2
Adolescent adaptive behavior profiles in Williams-Beuren syndrome, Down syndrome, and autism spectrum disorder. ( 28747993 )
2017
3
A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema. ( 28574231 )
2017
4
A rare association of central hypothyroidism and adrenal insufficiency in a boy with Williams-Beuren syndrome. ( 28443262 )
2017
5
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
6
The A9elfin faceA9: craniofacial and dental aspects of the Williams-Beuren syndrome. ( 28691460 )
2017
7
Seven cases with Williams-Beuren syndrome: endocrine evaluation and long-term follow-up. ( 28085672 )
2017
8
Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology? ( 28626595 )
2017
9
Keratoconus associated with Williams-Beuren syndrome: a new case report. ( 28503444 )
2017
10
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
11
Computerized Tomography Use in Williams-Beuren Syndrome Aortopathy. ( 28584589 )
2017
12
DNA damage response defect in Williams-Beuren syndrome. ( 28350066 )
2017
13
Structural variants in genes associated with human Williams-Beuren syndrome underlie stereotypical hypersociability in domestic dogs. ( 28776031 )
2017
14
Hypercalcemia in Patients with Williams-Beuren Syndrome. ( 27574996 )
2016
15
Williams-Beuren Syndrome with Mirror Movements. ( 27306224 )
2016
16
RNA-Seq analysis of Gtf2ird1 knockout epidermal tissue provides potential insights into molecular mechanisms underpinning Williams-Beuren syndrome. ( 27295951 )
2016
17
Williams-Beuren syndrome: pitfalls for diagnosis in limited resources setting. ( 27014455 )
2016
18
Synaptic plasticity and spatial working memory are impaired in the CD mouse model of Williams-Beuren syndrome. ( 27485321 )
2016
19
Endocrine dysfunctions in children with Williams-Beuren syndrome. ( 27104174 )
2016
20
An InA Vivo Gain-of-Function Screen Identifies the Williams-Beuren Syndrome Gene GTF2IRD1 as a Mammary Tumor Promoter. ( 27239038 )
2016
21
A Patient With Pansynostosis and Williams-Beuren Syndrome. ( 26703032 )
2016
22
Facial emotion processing in patients with social anxiety disorder and Williams-Beuren syndrome: an fMRI study. ( 26624523 )
2016
23
Reciprocal Microduplication of the Williams-Beuren Syndrome Chromosome Region in a 9-Year-Old Omani Boy. ( 27069036 )
2016
24
Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1. ( 27613244 )
2016
25
End-stage ischemic heart failure and Williams-Beuren syndrome: A unique scenario for pediatric heart transplantation. ( 26918834 )
2016
26
Infantile spasms in Williams-Beuren syndrome with typical deletions of the 7q11.23 critical region and a review of the literature. ( 27062269 )
2016
27
Williams-Beuren syndrome--a rare cause of recurrent hemoptysis. ( 27209840 )
2016
28
Lower urinary tract symptoms in children and adolescents with Williams-Beuren syndrome. ( 27876405 )
2016
29
Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis. ( 27022327 )
2016
30
Follicular thyroid carcinoma in a male adolescent with Williams-Beuren syndrome. ( 27116698 )
2016
31
Elastins from patients with Williams-Beuren syndrome and healthy individuals differ on the molecular level. ( 27311421 )
2016
32
Bone mineral status and metabolism in patients with Williams-Beuren syndrome. ( 27394705 )
2016
33
Correlations between behavior, memory, sleep-wake and melatonin in Williams-Beuren syndrome. ( 26976740 )
2016
34
Metabolic abnormalities in Williams-Beuren syndrome. ( 25663682 )
2015
35
Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India. ( 26352091 )
2015
36
Alternative treatment for open bite Class III malocclusion in a child with Williams-Beuren syndrome. ( 25741831 )
2015
37
Corrigendum to "Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA". ( 26636100 )
2015
38
Treatment of central precocious puberty and early puberty with GnRH analog in girls with Williams-Beuren syndrome. ( 26197460 )
2015
39
Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region. ( 26437767 )
2015
40
Diagnostic Path of a Genetic Disease: A Case of Williams-Beuren Syndrome in Burkina Faso. ( 26734123 )
2015
41
Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams-Beuren Syndrome. ( 26216516 )
2015
42
Williams-Beuren Syndrome: A Case Confirmed by Array-CGH Method. ( 26199689 )
2015
43
High prevalence of cardiovascular risk factors in children and adolescents with Williams-Beuren syndrome. ( 26384008 )
2015
44
Giant multiple bladder diverticula in Williams-Beuren syndrome. ( 26230207 )
2015
45
Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome. ( 26603386 )
2015
46
A rare case of discrete aortic coarctation in Williams-Beuren syndrome. Diagnostic and therapeutic considerations. ( 26429123 )
2015
47
Bilateral vocal cord paralysis and hypothyroidism as presenting symptoms of Williams-Beuren syndrome: a case report. ( 26143126 )
2015
48
De novo obstruction after supravalvular aortic stenosis repair in Williams-Beuren syndrome. ( 25952214 )
2015
49
Optical coherence tomography can visualize the pulmonary artery in Williams-Beuren syndrome. ( 25925219 )
2015
50
Recurrent Cricopharyngeal Achalasia in a Child With Williams-Beuren Syndrome. ( 26413967 )
2015

Variations for Williams-Beuren Syndrome

ClinVar genetic disease variations for Williams-Beuren Syndrome:

6 (show all 33)
id Gene Variation Type Significance SNP ID Assembly Location
1 ELN ELN, 100-KB DEL deletion Pathogenic
2 ELN ELN, 30-KB DEL deletion Pathogenic
3 ELN ELN, IVS15AS, A-G, -2 single nucleotide variant Pathogenic
4 ELN NM_000501.3(ELN): c.1324C> T (p.Gln442Ter) single nucleotide variant Pathogenic rs137854452 GRCh37 Chromosome 7, 73471010: 73471010
5 ELN NM_000501.3(ELN): c.1621C> T (p.Arg541Ter) single nucleotide variant Pathogenic rs137854453 GRCh37 Chromosome 7, 73474514: 73474514
6 ELN ELN, 1-BP DEL, 1821C deletion Pathogenic
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 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

Copy number variations for Williams-Beuren Syndrome from CNVD:

7 (show top 50) (show all 239)
id 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:

id Name GO ID Score Top Affiliating Genes
1 regulation of transcription from RNA polymerase II promoter 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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