WS
MCID: WLL001
MIFTS: 60

Williams-Beuren Syndrome (WS) malady

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

Aliases & Classifications for Williams-Beuren Syndrome

Aliases & Descriptions for Williams-Beuren Syndrome:

Name: Williams-Beuren Syndrome 54 12 23 50 24 25 56 13 14 38
Williams Syndrome 71 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;

GeneReviews:

23
williams-beuren syndrome:
Mortality/Aging death in early adulthood sudden death
Inheritance autosomal dominant inheritance


GeneReviews:

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

Classifications:



External Ids:

OMIM 54 194050
Disease Ontology 12 DOID:1928
MeSH 42 D018980
NCIt 47 C85232
SNOMED-CT 64 63247009
Orphanet 56 ORPHA904
ICD10 via Orphanet 34 Q87.8
MESH via Orphanet 43 D018980
UMLS via Orphanet 70 C0175702
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 arthralgia, constipation and tremor. An important gene associated with Williams-Beuren Syndrome is WBS2 (Williams-Beuren Syndrome Type 2). The drugs Buprenorphine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and bone, and related phenotype is Decreased free cholesterol.

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.

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

OMIM : 54 Williams-Beuren syndrome is a multisystem disorder caused by hemizygous deletion of 1.5 to 1.8 Mb on chromosome... (194050) more...

Wikipedia : 71 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 hypercalcemia, infantile 11.6
5 waardenburg syndrome, type 2e, with or without neurologic involvement 11.6
6 supravalvar aortic stenosis 11.5
7 waldenstrom macroglobulinemia 11.1
8 waardenburg syndrome, type 1 11.1
9 macroglobulinemia, waldenstrom 1 11.1
10 weill-marchesani syndrome 11.0
11 weill-marchesani syndrome 1, recessive 11.0
12 waardenburg syndrome, type 4a 11.0
13 waardenburg syndrome, type 3 11.0
14 waardenburg syndrome, type 2a 11.0
15 7q11.23 duplication syndrome 10.9
16 chromosome 7q11.23 deletion syndrome, distal, 1.2-mb 10.9
17 waardenburg's syndrome 10.9
18 lymphoplasmacytic lymphoma 10.9
19 waardenburg syndrome, type 2c 10.8
20 waardenburg syndrome, type 2d 10.8
21 waardenburg syndrome, type 2b 10.8
22 waardenburg syndrome, type 4b 10.8
23 waardenburg syndrome, type 4c 10.8
24 chromosome 7q11.23 duplication syndrome 10.8
25 hypoplastic or aplastic tibia with polydactyly 10.8
26 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 10.8
27 weill-marchesani syndrome 3, recessive 10.8
28 weill-marchesani syndrome 2, dominant 10.8
29 chromophobe renal cell carcinoma 10.4
30 renal oncocytoma 10.4
31 alzheimer disease 10.4
32 macroglobulinemia 10.2
33 cardiomyopathy 10.1
34 intellectual disability 10.1
35 keratoconus 10.1
36 epilepsy 10.1
37 esophagitis, eosinophilic, 1 10.1 ELN GTF2I LIMK1
38 chromosome 16p11.2 deletion syndrome, 220kb 10.1 BAZ1B ELN GTF2I GTF2IRD1 GTF2IRD2
39 lymphoma 10.1
40 neurofibromatosis 10.1
41 autistic disorder 10.1
42 achalasia 10.1
43 hypothyroidism 10.1
44 celiac disease 10.1
45 strabismus 9.9
46 scoliosis 9.9
47 thyroiditis 9.9
48 fragile x syndrome 9.9
49 endocarditis 9.9
50 diverticulitis 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 by clinical synopsis from OMIM:

194050

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 arthralgia 56 32 Frequent (79-30%) HP:0002829
2 constipation 56 32 Frequent (79-30%) HP:0002019
3 tremor 56 32 Very frequent (99-80%) HP:0001337
4 abdominal pain 56 32 Very frequent (99-80%) HP:0002027
5 joint stiffness 56 32 Frequent (79-30%) HP:0001387
6 nausea and vomiting 56 32 Frequent (79-30%) HP:0002017
7 abnormality of extrapyramidal motor function 56 32 Very frequent (99-80%) HP:0002071
8 joint laxity 56 32 Occasional (29-5%) HP:0001388
9 hyperacusis 56 32 Very frequent (99-80%) HP:0010780
10 periorbital edema 56 32 Very frequent (99-80%) HP:0100539
11 elfin facies 56 32 Very frequent (99-80%) HP:0004428
12 pectus excavatum 56 32 Occasional (29-5%) HP:0000767
13 obesity 56 32 Frequent (79-30%) HP:0001513
14 genu valgum 56 32 Frequent (79-30%) HP:0002857
15 depression 56 32 Very frequent (99-80%) HP:0000716
16 hypothyroidism 56 32 Occasional (29-5%) HP:0000821
17 precocious puberty 56 32 Occasional (29-5%) HP:0000826
18 osteopenia 56 32 Occasional (29-5%) HP:0000938
19 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
20 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
21 spasticity 56 32 Frequent (79-30%) HP:0001257
22 dysarthria 56 32 Occasional (29-5%) HP:0001260
23 hyperreflexia 56 32 Very frequent (99-80%) HP:0001347
24 dysphonia 56 32 Occasional (29-5%) HP:0001618
25 sudden cardiac death 56 32 Occasional (29-5%) HP:0001645
26 developmental regression 56 32 Occasional (29-5%) HP:0002376
27 scoliosis 56 32 Occasional (29-5%) HP:0002650
28 kyphosis 56 32 Frequent (79-30%) HP:0002808
29 hyperlordosis 56 32 Frequent (79-30%) HP:0003307
30 inguinal hernia 56 32 Frequent (79-30%) HP:0000023
31 macroglossia 56 32 Very frequent (99-80%) HP:0000158
32 gingival overgrowth 56 32 Occasional (29-5%) HP:0000212
33 coarse facial features 56 32 Very frequent (99-80%) HP:0000280
34 chronic otitis media 56 32 Frequent (79-30%) HP:0000389
35 macrotia 56 32 Very frequent (99-80%) HP:0000400
36 cataract 56 32 Occasional (29-5%) HP:0000518
37 dental malocclusion 56 32 Frequent (79-30%) HP:0000689
38 recurrent respiratory infections 56 32 Occasional (29-5%) HP:0002205
39 delayed skeletal maturation 56 32 Occasional (29-5%) HP:0002750
40 type ii diabetes mellitus 56 32 Occasional (29-5%) HP:0005978
41 corneal opacity 56 32 Occasional (29-5%) HP:0007957
42 open bite 56 32 Very frequent (99-80%) HP:0010807
43 wide nasal bridge 56 32 Very frequent (99-80%) HP:0000431
44 carious teeth 56 32 Occasional (29-5%) HP:0000670
45 umbilical hernia 56 32 Occasional (29-5%) HP:0001537
46 pes planus 56 32 Frequent (79-30%) HP:0001763
47 malabsorption 56 32 Occasional (29-5%) HP:0002024
48 short nose 56 32 Very frequent (99-80%) HP:0003196
49 microcephaly 56 32 Frequent (79-30%) HP:0000252
50 sensorineural hearing impairment 56 32 Frequent (79-30%) HP:0000407

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 577)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
2
Dopamine Approved Phase 4,Phase 3,Phase 1,Phase 2 51-61-6, 62-31-7 681
3
Heparin Approved, Investigational Phase 4,Phase 2 9005-49-6 772 46507594
4
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
5
Enalaprilat Approved Phase 4 76420-72-9 6917719
6
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
7
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3 50-02-2 5743
8
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2,Early Phase 1 134678-17-4 60825
9
Sorbitol Approved Phase 4 50-70-4 5780
10
Dorzolamide Approved Phase 4 120279-96-1 3154 5284549
11
Timolol Approved Phase 4 26839-75-8 33624 5478
12
Aspirin Approved, Vet_approved Phase 4,Phase 3 50-78-2 2244
13
Everolimus Approved Phase 4 159351-69-6 6442177
14
Paclitaxel Approved, Vet_approved Phase 4,Phase 3,Phase 1 33069-62-4 36314
15
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
16
Hydrocortisone Approved, Vet_approved Phase 4,Phase 3 50-23-7 5754 657311
17
Ethanol Approved Phase 4,Phase 3,Phase 2,Phase 1 64-17-5 702
18
Glycerol Approved, Experimental Phase 4,Phase 3 56-81-5 753
19
Polidocanol Approved Phase 4 9002-92-0
20
Apixaban Approved Phase 4,Phase 3,Phase 2 503612-47-3 10182969
21
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 1 50-28-2 5757 53477783
22
Ethinyl Estradiol Approved Phase 4,Phase 1 57-63-6 5991
23
Moxifloxacin Approved, Investigational Phase 4,Phase 1 354812-41-2, 151096-09-2 152946
24
Norgestimate Approved Phase 4,Phase 1 35189-28-7 6540478
25
Methylphenidate Approved, Investigational Phase 4,Phase 2 113-45-1 4158
26
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
27
Argatroban Approved, Investigational Phase 4 74863-84-6 152951
28
Desirudin Approved Phase 4 120993-53-5
29
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
30
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 59-30-3 6037
31
Niacin Approved, Investigational, Nutraceutical Phase 4,Phase 3 59-67-6 938
32
Nicotinamide Approved, Nutraceutical Phase 4,Phase 3 98-92-0 936
33
Clopidogrel Approved, Nutraceutical Phase 4,Phase 3 120202-66-6, 113665-84-2 60606
34
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
35
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
36
Phytonadione Approved, Nutraceutical Phase 4 84-80-0 4812 5284607
37
Maleic acid Experimental Phase 4 110-16-7 444266
38
Butyric Acid Experimental Phase 4,Phase 3 107-92-6 264
39 Analgesics Phase 4,Phase 3,Phase 2
40 Analgesics, Opioid Phase 4
41 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
42 Narcotic Antagonists Phase 4
43 Narcotics Phase 4
44 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
45 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Phase 1
46 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
47 Hormone Antagonists Phase 4,Phase 2,Phase 3,Early Phase 1
48 Hormones Phase 4,Phase 2,Phase 3,Early Phase 1
49 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Early Phase 1
50 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 462)
id Name Status NCT ID Phase
1 Diagnosis and Treatment of ACS in the ED: The Impact of Rapid Bedside cTnI Testing on Outcomes Unknown status NCT00222352 Phase 4
2 Buprenorphine and Integrated HIV Care Evaluation Unknown status NCT00124358 Phase 4
3 Effect of Sitagliptin and an ACE Inhibitor on Blood Pressure in Metabolic Syndrome Completed NCT00666848 Phase 4
4 Premedication for Non-Emergency Endotracheal Intubation In the NICU Completed NCT01749501 Phase 4
5 Niacin, N-3 Fatty Acids and Insulin Resistance Completed NCT00286234 Phase 4
6 Assessment of Inflammatory Biomarkers Expressed in a Sjogren's Population: Effect of a Topical Steroid Intervention Completed NCT00631358 Phase 4
7 Diagnosis and Treatment of Acute Coronary Syndrome in the ED & the Impact of Rapid Bedside cTnl on Outcome. Completed NCT00276432 Phase 4
8 A Phase IV, Open Label, 4-period Cross-over Study to Investigate a Drug Interaction Between Lamivudine and Sorbitol Oral Solutions in Healthy Volunteers Completed NCT02634073 Phase 4
9 Study of Stapled Transanal Rectal Resection (STARR) Surgery in Refractory Constipation Associated With Obstructive Defecation Syndrome (ODS) Completed NCT00256984 Phase 4
10 Soothe Versus Refresh Completed NCT00284999 Phase 4
11 Assessing Cosopt Switch Patients Completed NCT00273442 Phase 4
12 The Dual Antiplatelet Therapy Study (DAPT Study) Completed NCT00977938 Phase 4
13 Aruba Aloe Formula F-BC-096 in the Treatment of Split Thickness Donor Site After Wound Closure Completed NCT01213420 Phase 4
14 Steroids in Bilateral Total Knee Replacement Completed NCT01399268 Phase 4
15 Efficacy and Safety of Kinetin 0.1% for Treatment of Skin Photoaging Completed NCT01898182 Phase 4
16 Effect of Preoperative Estrogen Treatment on Connective Tissues of the Pelvic Floor Completed NCT01778985 Phase 4
17 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4
18 A Study of Apixaban in Patients With Atrial Fibrillation, Not Caused by a Heart Valve Problem, Who Are at Risk for Thrombosis (Blood Clots) Due to Having Had a Recent Coronary Event, Such as a Heart Attack or a Procedure to Open the Vessels of the Heart Recruiting NCT02415400 Phase 4
19 Study Assessing an Algorithm-based Strategy of Eculizumab Discontinuation in Children and Adults With aHUS Recruiting NCT02574403 Phase 4
20 Oral Contraceptives in the Metabolic Syndrome Active, not recruiting NCT00205504 Phase 4
21 The Efficacy of Crotaline Fab Antivenom for Copperhead Snake Envenomations Terminated NCT00303303 Phase 4
22 A Comparative Sudy Comparing Argatroban® IV vs Desirudin SC for Suspected HIT With or Without Thrombosis Syndrome Terminated NCT00787332 Phase 4
23 Pilot Study of Bydureon to Treat Diabetes in HIV-infected Adults Terminated NCT01791465 Phase 4
24 A Comparison of OASIS Wound Matrix With Approved Dressings for Skin Graft Donor Sites Withdrawn NCT02994589 Phase 4
25 Coronary Computed Tomographic Angiography in Emergency Department Chest Pain Patients at Intermediate Risk of Acute Coronary Syndrome Unknown status NCT00473863 Phase 3
26 Trial for the Use of Pretest Probability to Reduce Unnecessary Testing for Low-Risk Patients With Chest Pain Unknown status NCT00243516 Phase 3
27 Safety and Immunogenicity of 10-valent and 13-valent Pneumococcal Conjugate Vaccines in Papua New Guinean Children Unknown status NCT01619462 Phase 3
28 A Study of the Safety and Effectiveness of DDP733 in Treating IBS With Constipation in Females Unknown status NCT00547469 Phase 2, Phase 3
29 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3
30 Memantine in Preventing Side Effects in Patients Undergoing Whole-Brain Radiation Therapy for Brain Metastases From Solid Tumors Unknown status NCT00566852 Phase 3
31 Ibandronate or Zoledronate in Treating Patients With Newly Diagnosed Bone Metastases From Breast Cancer Unknown status NCT00326820 Phase 3
32 Selective Exposure in HIV Prevention Unknown status NCT01152281 Phase 2, Phase 3
33 Comparison of Two Dosing Regimens of GW433908/Ritonavir Versus Lopinavir/Ritonavir for 48 Weeks in HIV Patients Who Have Taken Protease Inhibitors and Experienced Virological Failure Unknown status NCT00025727 Phase 3
34 The Safety of Tenofovir Disoproxil Fumarate Taken With Other Anti-HIV Drugs to Treat HIV-Infected Patients Unknown status NCT00007436 Phase 3
35 The Potential of Candesartan to Retard the Progression of Aortic Stenosis Unknown status NCT00699452 Phase 3
36 Gastrointestinal Biopsychosocial Research Center Completed NCT00947180 Phase 3
37 Apnea Positive Pressure Long-Term Efficacy Study Completed NCT00051363 Phase 3
38 Study of PROVIGIL ® (Modafinil) Treatment in Children and Adolescents With Excessive Sleepiness Associated With Obstructive Sleep Apnea/Hypopnea Syndrome Completed NCT00107809 Phase 3
39 PROVIGIL® (Modafinil) Treatment in Children and Adolescents With Excessive Sleepiness Associated With Narcolepsy or Obstructive Sleep Apnea/Hypopnea Syndrome Completed NCT00107848 Phase 3
40 Efficacy of Amitriptyline for Painful Bladder Syndrome (PBS) Completed NCT00124306 Phase 3
41 Chemotherapy in Treating Children With Down Syndrome and Myeloproliferative Disorder, Acute Myelogenous Leukemia, or Myelodysplastic Syndrome Completed NCT00003593 Phase 3
42 Testosterone Replacement Therapy in Chronic Spinal Cord Injury Completed NCT00266864 Phase 2, Phase 3
43 An Implantable Microstimulator for the Chronic Treatment of Urinary Urgency-Frequency Syndrome Completed NCT00131573 Phase 3
44 Corticosteroids as Rescue Therapy for the Late Phase of Acute Respiratory Distress Syndrome Completed NCT00295269 Phase 3
45 Treatment of Functional Bowel Disorders Completed NCT00006157 Phase 3
46 Pregnancy in Polycystic Ovary Syndrome II Completed NCT00719186 Phase 3
47 A Two Part Study (306A/306B) to Assess Droxidopa in Treatment of NOH in Patients With Parkinson's Disease Completed NCT01176240 Phase 3
48 Fluids and Catheters Treatment Trial (FACTT) - ARDS Clinical Research Network Completed NCT00281268 Phase 3
49 Safety and Effectiveness of Giving Isotretinoin to HIV-Infected Women to Treat Cervical Tumors Completed NCT00001073 Phase 3
50 SPECTACL: SPECTroscopic Assessment of Coronary Lipid Completed NCT00330928 Phase 2, Phase 3

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, Eye, Bone, Skin, Colon, Kidney, Ovary

Publications for Williams-Beuren Syndrome

Articles related to Williams-Beuren Syndrome:

(show top 50) (show all 303)
id Title Authors Year
1
Keratoconus associated with Williams-Beuren syndrome: a new case report. ( 28503444 )
2017
2
A rare association of central hypothyroidism and adrenal insufficiency in a boy with Williams-Beuren syndrome. ( 28443262 )
2017
3
Seven cases with Williams-Beuren syndrome: endocrine evaluation and long-term follow-up. ( 28085672 )
2017
4
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
5
DNA damage response defect in Williams-Beuren syndrome. ( 28098859 )
2017
6
DNA damage response defect in Williams-Beuren syndrome. ( 28350066 )
2017
7
Follicular thyroid carcinoma in a male adolescent with Williams-Beuren syndrome. ( 27116698 )
2016
8
Williams-Beuren syndrome: pitfalls for diagnosis in limited resources setting. ( 27014455 )
2016
9
Correlations between behavior, memory, sleep-wake and melatonin in Williams-Beuren syndrome. ( 26976740 )
2016
10
Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1. ( 27613244 )
2016
11
Elastins from patients with Williams-Beuren syndrome and healthy individuals differ on the molecular level. ( 27311421 )
2016
12
Facial emotion processing in patients with social anxiety disorder and Williams-Beuren syndrome: an fMRI study. ( 26624523 )
2016
13
Reciprocal Microduplication of the Williams-Beuren Syndrome Chromosome Region in a 9-Year-Old Omani Boy. ( 27069036 )
2016
14
Williams-Beuren syndrome--a rare cause of recurrent hemoptysis. ( 27209840 )
2016
15
Williams-Beuren Syndrome with Mirror Movements. ( 27306224 )
2016
16
An InA Vivo Gain-of-Function Screen Identifies the Williams-Beuren Syndrome Gene GTF2IRD1 as a Mammary Tumor Promoter. ( 27239038 )
2016
17
A Patient With Pansynostosis and Williams-Beuren Syndrome. ( 26703032 )
2016
18
Hypercalcemia in Patients with Williams-Beuren Syndrome. ( 27574996 )
2016
19
Endocrine dysfunctions in children with Williams-Beuren syndrome. ( 27104174 )
2016
20
End-stage ischemic heart failure and Williams-Beuren syndrome: A unique scenario for pediatric heart transplantation. ( 26918834 )
2016
21
Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis. ( 27022327 )
2016
22
Bone mineral status and metabolism in patients with Williams-Beuren syndrome. ( 27394705 )
2016
23
RNA-Seq analysis of Gtf2ird1 knockout epidermal tissue provides potential insights into molecular mechanisms underpinning Williams-Beuren syndrome. ( 27295951 )
2016
24
Infantile spasms in Williams-Beuren syndrome with typical deletions of the 7q11.23 critical region and a review of the literature. ( 27062269 )
2016
25
Lower urinary tract symptoms in children and adolescents with Williams-Beuren syndrome. ( 27876405 )
2016
26
Synaptic plasticity and spatial working memory are impaired in the CD mouse model of Williams-Beuren syndrome. ( 27485321 )
2016
27
Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior. ( 26420477 )
2015
28
Multi-district coronary tree involvement in a 17-year-old girl with Williams-Beuren syndrome. ( 26306298 )
2015
29
Increased nocturnal heart rate and wave reflection are early markers of cardiovascular disease in Williams-Beuren syndrome children. ( 25915885 )
2015
30
Corrigendum to "Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA". ( 26636100 )
2015
31
Disruption of Src Is Associated with Phenotypes Related to Williams-Beuren Syndrome and Altered Cellular Localization of TFII-I(1,2). ( 26464974 )
2015
32
A rare case of discrete aortic coarctation in Williams-Beuren syndrome. Diagnostic and therapeutic considerations. ( 26429123 )
2015
33
Optical coherence tomography can visualize the pulmonary artery in Williams-Beuren syndrome. ( 25925219 )
2015
34
Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome. ( 26603386 )
2015
35
Metabolic abnormalities in Williams-Beuren syndrome. ( 25663682 )
2015
36
Diagnostic Path of a Genetic Disease: A Case of Williams-Beuren Syndrome in Burkina Faso. ( 26734123 )
2015
37
Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India. ( 26352091 )
2015
38
Twins with Williams-Beuren Syndrome and Discordance for Wilms Tumor. ( 26469783 )
2015
39
Recurrent Cricopharyngeal Achalasia in a Child With Williams-Beuren Syndrome. ( 26413967 )
2015
40
Giant multiple bladder diverticula in Williams-Beuren syndrome. ( 26230207 )
2015
41
Treatment of central precocious puberty and early puberty with GnRH analog in girls with Williams-Beuren syndrome. ( 26197460 )
2015
42
Oral findings and dental treatment in a child with Williams-Beuren syndrome. ( 26200160 )
2015
43
Bilateral vocal cord paralysis and hypothyroidism as presenting symptoms of Williams-Beuren syndrome: a case report. ( 26143126 )
2015
44
High prevalence of cardiovascular risk factors in children and adolescents with Williams-Beuren syndrome. ( 26384008 )
2015
45
Alternative treatment for open bite Class III malocclusion in a child with Williams-Beuren syndrome. ( 25741831 )
2015
46
Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams-Beuren Syndrome. ( 26216516 )
2015
47
Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region. ( 26437767 )
2015
48
De novo obstruction after supravalvular aortic stenosis repair in Williams-Beuren syndrome. ( 25952214 )
2015
49
Supravalvular aortic stenosis associated to infectious endocarditis and cerebral vascular disease in a patient with Williams-Beuren Syndrome. ( 25882107 )
2015
50
Williams-Beuren Syndrome: A Case Confirmed by Array-CGH Method. ( 26199689 )
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 GRCh38 Chromosome 7, 74051841: 74051841
27 ELN NM_000501.3(ELN): c.1208delG (p.Gly403Alafs) deletion Pathogenic rs727504433 GRCh38 Chromosome 7, 74056328: 74056328
28 ELN NM_000501.3(ELN): c.890-2A> G single nucleotide variant Pathogenic rs727504434 GRCh38 Chromosome 7, 74051922: 74051922
29 ELN NM_000501.3(ELN): c.608delC (p.Pro203Hisfs) deletion Pathogenic rs727504581 GRCh37 Chromosome 7, 73461062: 73461062
30 ELN NM_000501.3(ELN): c.1113dupA (p.Ala372Serfs) duplication 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 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
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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