MCID: WLL001
MIFTS: 46

Williams-Beuren Syndrome malady

Neuronal, Eye, Cardiovascular, Nephrological, Fetal categories

Summaries for Williams-Beuren Syndrome

Sources:
47OMIM, 33MalaCards
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MalaCards: Williams-Beuren Syndrome, also known as williams syndrome, is related to williams syndrome and supravalvular aortic stenosis, and has symptoms including high forehead, broad forehead and narrow face. An important gene associated with Williams-Beuren Syndrome is BAZ1B (bromodomain adjacent to zinc finger domain, 1B). Affiliated tissues include brain, kidney and t cells.

Description from OMIM:47 194050

Aliases & Classifications for Williams-Beuren Syndrome

Sources:
8Disease Ontology, 9diseasecard, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 40NCIt, 57SNOMED-CT, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Eye, Cardiovascular, Nephrological


Characteristics (Orphanet epidemiological data):

49
williams-beuren syndrome:
Inheritance: Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

williams-beuren syndrome 8 9 47 10 49
williams syndrome 49 61
fanconi schlesinger syndrome 8
gene deletion abnormality 61
monosomy 7q11.23 49
deletion 7q11.23 49


External Ids:

Disease Ontology8 DOID:1928
NCIt40 C85232
OMIM47 194050
MeSH35 D018980
SNOMED-CT57 63247009
MESH via Orphanet36 D018980
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet58 63247009
UMLS via Orphanet62 C0175702

Related Diseases for Williams-Beuren Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to williams-beuren syndrome

Clinical Features for Williams-Beuren Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

194050

Symptoms:

49 (show all 180)
  • high forehead
  • broad forehead
  • narrow face
  • coarse face
  • fine/elfin-like face
  • micrognathia/retrognathia/micrognathism/retrognathism
  • pointed chin
  • dental malocclusion
  • hypermetropia
  • blepharophimosis/short palpebral fissures
  • epicanthic folds
  • palpebral edema/periorbital edema
  • long/large/bulbous nose
  • broad nose/nasal bridge
  • macrostomia/big mouth
  • thick lips
  • everted lower lip
  • long philtrum
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • low set ears/posteriorly rotated ears
  • prominent/bat ears
  • long/large ear
  • hyperacusia
  • anomalies of the neck
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • acute abdominal pain/colic
  • abnormal cry/voice/phonation disorder/nasal speech
  • structural anomalies of the cardio-circulatory system
  • aortic valve atresia/stenosis/narrowing/supra-aortic/supra-valvular stenosis
  • diabetes mellitus
  • structural anomalies of the nervous system
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • tremor
  • myoclonus/fasciculations
  • extrapyramidal syndrome
  • execution movement disorder/dysmetria/bradykinesia/akinesia/apraxia
  • hypereflexia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • alexia/agraphia/writing/reading troubles
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hyperactivity/attention deficit
  • psychic/behavioural troubles
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • hypercalcemia
  • insterstitial/subtelomeric microdeletion/deletion
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • microcephaly
  • flat cheek bones/malar hypoplasia
  • mild visual loss/impaired visual acuity
  • strabismus/squint
  • tooth shape anomaly
  • complete/partial microdontia
  • anodontia/oligodontia/hypodontia
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • enamel anomaly
  • sensorineural deafness/hearing loss
  • chronic/relapsing otitis
  • narrow/sloping shoulders
  • kyphosis
  • lordosis
  • sacral sinus/dimple
  • inguinal/inguinoscrotal/crural hernia
  • clinodactyly of fifth finger
  • genu valgum
  • flat foot
  • hallux valgus
  • loose skin/skin relaxation/excess skin/creases
  • thin/hypoplastic/hyperconvex fingernails
  • thin/hypoplastic toenails
  • colonic/intestinal/bowel diverticulosis/diverticulitis
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • constipation
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • chronic arterial hypertension
  • arterial stenosis/occlusion
  • ectopic/horseshoe/fused kidneys
  • bladder and ureter anomalies
  • renal failure
  • renovascular hypertension
  • proteinuria
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • cerebral vascular anomalies
  • transient cerebral ischemia/stroke
  • sphincter dysfunction
  • hypotonia
  • hypertonia/spasticity/rigidity/stiffness
  • insomnia
  • autism/autistic disoders
  • obsessive-compulsive disorder
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • articular/joint pain/arthralgia
  • restricted joint mobility/joint stiffness/ankylosis
  • hypercalciuria
  • generalized obesity
  • glaucoma
  • aniridia/iris hypoplasia
  • corneal clouding/opacity/vascularisation
  • megalocornea
  • flat cornea
  • embryotoxon
  • cataract/lens opacification
  • retinal vascular anomalies/retinal telangiectasia
  • myopia
  • defect/anomaly of lacrimal system
  • thickened/hypertrophic/fibromatous gingivae
  • multiple caries
  • pectus excavatum
  • scoliosis
  • spina bifida occulta
  • abnormal vertebral size/shape
  • vertebral segmentation anomaly/hemivertebrae
  • umbilical hernia
  • radioulnar synostosis
  • abnormal dermatoglyphics
  • clasp thumb/thumb adduction/distal thumb phalangeal bone deviated/large
  • ankle anomalies
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • anus/rectum anomalies
  • epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • malabsorption/chronic diarrhea/steatorrhea
  • biliary/gallbladder stones/lithiasis/cholecystitis
  • repeat respiratory infections
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • cardiomegaly
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • dextroposition of aorta
  • tetralogy of fallot/trilogy of fallot
  • cardiac septal defect
  • atrial septal defect/interauricular communication
  • ventricular septal defect/interventricular communication
  • patent ductus arteriosus
  • cardiomyopathy/hypertrophic/dilated
  • endocardium anomalies/fibroelastosis/endocarditis
  • carotid artery anomalies
  • angor pectoris/myocardial infarction
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • heart/cardiac failure
  • agenesis/hypoplasia/aplasia of kidneys
  • supernumerary kidney
  • polycystic kidneys
  • bladder/vesical diverticulum
  • urethral anomalies/stenosis/posterior urethral valves/megalocystis
  • vesicorenal/vesicoureteral reflux
  • interstitial nephropathy
  • renal/kidney calcifications/nephrocalcinosis
  • urinary/renal lithiasis/kidney stones/nephritic colic
  • recurrent urinary infections
  • abnormal/polycystic ovaries
  • micropenis/small penis/agenesis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • azoospermia/oligospermia/asthenospermia
  • ectopic/agenesis/dysgenesis/hypoplastic thyroid
  • hypothyroidy
  • insulin-independent/type 2 diabetes
  • precocious puberty
  • late puberty/hypogonadism/hypogenitalism
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • arnold-chiari anomaly
  • corpus callosum/septum pellucidum total/partial agenesis
  • thalamic/hypothalamic defect
  • elocution disorders/dysarthria/dysphonia
  • psychic/psychomotor regression/dementia/intellectual decline
  • myopathy
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • osteosclerosis/osteopetrosis/bone condensation
  • synostosis
  • delayed bone age
  • anomalies of cartilages, joints and periarticular tissue
  • hyperextensible joints/articular hyperlaxity
  • patella dislocation
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • early death in adulthood
  • premature ageing
  • increased nuchal translucency

Drugs & Therapeutics for Williams-Beuren Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Williams-Beuren Syndrome

Drug clinical trials:

Search ClinicalTrials for Williams-Beuren Syndrome

Search NIH Clinical Center for Williams-Beuren Syndrome

Search CenterWatch for Williams-Beuren Syndrome

Genetic Tests for Williams-Beuren Syndrome

Anatomical Context for Williams-Beuren Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Williams-Beuren Syndrome:

33
Brain, Kidney, T cells

Animal Models for Williams-Beuren Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Williams-Beuren Syndrome

Sources:
51PubMed
See all sources

Articles related to Williams-Beuren Syndrome:

(show top 50)    (show all 230)
idTitleAuthorsYear
1
Infantile ictal apneas in a child with williams-beuren syndrome. (23337011)
2013
2
Reciprocal Duplication of the Williams-Beuren Syndrome Deletion on Chromosome 7q11.23 Is Associated with Schizophrenia. (23871472)
2013
3
Molecular and phenotypic characterization of atypical Williams-Beuren syndrome. (24246242)
2013
4
The clinical and genetic distinction between familial supravalvular aortic stenosis (Eisenberg syndrome) and Williams-Beuren syndrome. (22843229)
2012
5
Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries. (22226172)
2012
6
Cardiomyopathy and sudden cardiac death in Williams-Beuren-syndrome. (21920613)
2012
7
The mystery of sudden death in Williams-Beuren syndrome: cardiomyopathy or Kounis syndrome? (22078390)
2012
8
Atypical deletion in Williams-Beuren syndrome critical region detected by MLPA in a patient with supravalvular aortic stenosis and learning difficulty. (23089367)
2012
9
Mutation of Gtf2ird1 from the Williams-Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations. (22198572)
2012
10
Hypertensive encephalopathy: a rare presentation of Williams-Beuren Syndrome. (21798143)
2011
11
Molecular basis of Williams-Beuren syndrome: TFII-I regulated targets involved in craniofacial development. (20500075)
2011
12
Better late than never: diagnosis and successful treatment in late adulthood of supravalvular aortic stenosis secondary to Williams-Beuren syndrome. (21329288)
2011
13
Endoarterial scoring--a novel treatment for resistant pulmonary arterial lesions associated with Williams-Beuren syndrome. (20351395)
2010
14
An infant with Williams-Beuren syndrome and Ebstein anomaly. (20465859)
2010
15
General anaesthesia for a patient with Williams-Beuren syndrome: is sevoflurane and ketamine contraindicated? (19881355)
2010
16
Williams-Beuren syndrome: diagnosis by polymorphic markers. (20136526)
2010
17
An unusual attraction to the eyes in Williams-Beuren syndrome: a manipulation of facial affect while measuring face scanpaths. (20432078)
2010
18
A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms. (19752158)
2010
19
Clinical features and management of arterial hypertension in children with Williams-Beuren syndrome. (19815602)
2010
20
Behavioral and cognitive phenotype of children and adolescents with Williams-Beuren Syndrome. (21103708)
2010
21
Abnormal extraocular muscle anatomy in a case of Williams-Beuren Syndrome. (19393520)
2009
22
Williams-Beuren syndrome-associated transcription factor TFII-I regulates osteogenic marker genes. (19880526)
2009
23
Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development. (19109438)
2009
24
Cardiovascular spectrum in Williams-Beuren syndrome: the Mexican experience in 40 patients. (18941598)
2008
25
Determination and functional analysis of the consensus binding site for TFII-I family member BEN, implicated in Williams-Beuren syndrome. (18326499)
2008
26
Transitional implants in a patient with Williams-Beuren syndrome: a four-year follow-up. (17658187)
2007
27
Pulmonary and aortic stenosis measurement in Williams-Beuren syndrome. (17888046)
2007
28
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. (17666889)
2007
29
Williams-Beuren syndrome: determination of deletion size using quantitative real-time PCR. (17016608)
2006
30
Williams-Beuren syndrome. (16543440)
2006
31
Saccade adaptation in Williams-Beuren Syndrome. (16565380)
2006
32
Vascular wall remodeling in patients with supravalvular aortic stenosis and Williams Beuren syndrome. (15832055)
2005
33
Visual depth processing in Williams-Beuren syndrome. (15965761)
2005
34
Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23. (16140988)
2005
35
Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome. (15100712)
2004
36
Long-term control of hypercalcaemia in an infant with williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate). (15303821)
2004
37
Partial deletion of the critical 1.5 Mb interval in Williams-Beuren syndrome. (12920091)
2003
38
Arterial hypertension in a child with Williams-Beuren syndrome (7q11.23 chromosomal deletion). (12219191)
2002
39
WBSCR14, a gene mapping to the Williams-Beuren syndrome deleted region, is a new member of the Mlx transcription factor network. (11230181)
2001
40
Characterization and expression pattern of the frizzled gene Fzd9, the mouse homolog of FZD9 which is deleted in Williams-Beuren syndrome. (10198163)
1999
41
Growth hormone treatment in a child with Williams-Beuren syndrome: a case report. (10378390)
1999
42
Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion. (9878248)
1998
43
A mouse single-copy gene, Gtf2i, the homolog of human GTF2I, that is duplicated in the Williams-Beuren syndrome deletion region. (9521869)
1998
44
Williams-Beuren syndrome. Long-term results of surgical treatments in six patients. (9201121)
1997
45
Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus. (7545578)
1995
46
"Autistic" behavior in two children with Williams-Beuren syndrome. (7802044)
1994
47
Adults with Williams-Beuren syndrome: evaluation of the medical, psychological and behavioral aspects. (7820925)
1994
48
Williams-Beuren syndrome: a 30-year follow-up of natural and postoperative course. (8299625)
1993
49
Supravalvar aortic stenosis--a constant feature of Williams-Beuren syndrome. (8456033)
1993
50
Progressive vascular lesions in Williams-Beuren syndrome. (3347591)
1988

Genetic Variations for Williams-Beuren Syndrome

Expression for genes affiliated with Williams-Beuren Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Williams-Beuren Syndrome

Search GEO for disease gene expression data for Williams-Beuren Syndrome.

Pathways for genes affiliated with Williams-Beuren Syndrome

Compounds for genes affiliated with Williams-Beuren Syndrome

GO Terms for genes affiliated with Williams-Beuren Syndrome

Products for genes affiliated with Williams-Beuren Syndrome

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Sources for Williams-Beuren Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet