MCID: WLL001
MIFTS: 54

Williams-Beuren Syndrome malady

Genetic diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Fetal diseases, Rare diseases categories
Download this MalaCard

Summaries for Williams-Beuren Syndrome

About this section
Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
MalaCards: Williams-Beuren Syndrome, also known as williams syndrome, is related to supravalvular aortic stenosis and williams syndrome, and has symptoms including glaucoma, obsessive-compulsive disorder and cardiac septal defect. An important gene associated with Williams-Beuren Syndrome is BAZ1B (bromodomain adjacent to zinc finger domain, 1B). Affiliated tissues include kidney, bone and skin, and related mouse phenotype adipose tissue.

Description from OMIM:47 194050

Aliases & Classifications for Williams-Beuren Syndrome

About this section
Sources:
8Disease Ontology, 9diseasecard, 47OMIM, 10DISEASES, 49Orphanet, 62UMLS, 40NCIt, 35MeSH, 58SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:



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 62
fanconi schlesinger syndrome 8
gene deletion abnormality 62
monosomy 7q11.23 49
deletion 7q11.23 49


External Ids:

Disease Ontology8 DOID:1928
OMIM47 194050
NCIt40 C85232
MeSH35 D018980
SNOMED-CT58 63247009
MESH via Orphanet36 D018980
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet59 63247009
UMLS via Orphanet63 C0175702

Related Diseases for Williams-Beuren Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to williams-beuren syndrome

Symptoms for Williams-Beuren Syndrome

About this section
Sources:
47OMIM, 49Orphanet
See all sources


Clinical features from OMIM:

194050

Symptoms:

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

Drugs & Therapeutics for Williams-Beuren Syndrome

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Williams-Beuren Syndrome

Search NIH Clinical Center for Williams-Beuren Syndrome

Genetic Tests for Williams-Beuren Syndrome

About this section

Anatomical Context for Williams-Beuren Syndrome

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Williams-Beuren Syndrome:

33
Kidney, Bone, Skin, Testes, Eye, Heart, Colon, Ovary, Thyroid, Tongue, Brain, T cells

Animal Models for Williams-Beuren Syndrome or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Williams-Beuren Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537510.0GTF2IRD1, EIF4H, BAZ1B, MLXIPL

Publications for Williams-Beuren Syndrome

About this section
Sources:
52PubMed
See all sources

Articles related to Williams-Beuren Syndrome:

(show top 50)    (show all 227)
idTitleAuthorsYear
1
Infantile ictal apneas in a child with williams-beuren syndrome. (23337011)
2013
2
Clinical and neuropsychiatric status in children with Williams-Beuren Syndrome in Upper Egypt. (24309873)
2013
3
A new case of keratoconus associated with Williams-Beuren syndrome. (23167938)
2013
4
A putative polypeptide N-acetylgalactosaminyltransferase/Williams-Beuren syndrome chromosome region 17 (WBSCR17) regulates lamellipodium formation and macropinocytosis. (22787146)
2012
5
Behavioral features of Williams Beuren syndrome compared to Fragile X syndrome and subjects with intellectual disability without defined etiology. (21211940)
2011
6
Hypertensive encephalopathy: a rare presentation of Williams-Beuren Syndrome. (21798143)
2011
7
John C. P. Williams of Williams-Beuren syndrome. (21107555)
2011
8
Endoarterial scoring--a novel treatment for resistant pulmonary arterial lesions associated with Williams-Beuren syndrome. (20351395)
2010
9
Multiple sclerosis in association with Williams-Beuren syndrome. (20958825)
2010
10
An infant with Williams-Beuren syndrome and Ebstein anomaly. (20465859)
2010
11
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient. (19568270)
2010
12
General anaesthesia for a patient with Williams-Beuren syndrome: is sevoflurane and ketamine contraindicated? (19881355)
2010
13
How we approach peripheral pulmonary stenosis in Williams-Beuren syndrome. (19349025)
2009
14
Psychopathological and behavior impairments in Williams-Beuren syndrome: the influence of gender, chronological age, and cognition. (19125360)
2009
15
Transitional implants in a patient with Williams-Beuren syndrome: a four-year follow-up. (17658187)
2007
16
Visual search deficits in Williams-Beuren syndrome. (17010393)
2007
17
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. (16826523)
2006
18
Genetics and language in Williams-Beuren Syndrome: a distinct neurobehavioral disorder]. (17180802)
2006
19
Vascular wall remodeling in patients with supravalvular aortic stenosis and Williams Beuren syndrome. (15832055)
2005
20
Sigmoid diverticulitis in patients with Williams-Beuren syndrome: relatively high prevalence and high complication rate in young adults with the syndrome. (16007633)
2005
21
Growth hormone deficiency in a child with Williams-Beuren syndrome. The response to growth hormone therapy. (15751610)
2005
22
Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6. (15770126)
2005
23
Visual depth processing in Williams-Beuren syndrome. (15965761)
2005
24
Increased prevalences of left-handedness and left-eye sighting dominance in individuals with Williams-Beuren syndrome. (16207621)
2005
25
Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children. (15933846)
2005
26
Williams-Beuren syndrome critical region-5/non-T-cell activation linker: a novel target gene of AML1/ETO. (15489901)
2004
27
Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study. (14967851)
2004
28
Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome. (15388857)
2004
29
Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome. (12566524)
2003
30
Mutational mechanisms of Williams-Beuren syndrome deletions. (12796854)
2003
31
Williams-Beuren syndrome: a challenge for genotype-phenotype correlations. (12952863)
2003
32
The role of a Williams-Beuren syndrome-associated helix-loop-helix domain-containing transcription factor in activin/nodal signaling. (11937490)
2002
33
Arterial hypertension in a child with Williams-Beuren syndrome (7q11.23 chromosomal deletion). (12219191)
2002
34
Identification of additional transcripts in the Williams-Beuren syndrome critical region. (12073013)
2002
35
WBSCR14, a gene mapping to the Williams-Beuren syndrome deleted region, is a new member of the Mlx transcription factor network. (11230181)
2001
36
Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s). (11013070)
2000
37
WBSCR14, a putative transcription factor gene deleted in Williams- Beuren syndrome: complete characterisation of the human gene and the mouse ortholog. (10780788)
2000
38
Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23. (10575229)
1999
39
Characterization and expression pattern of the frizzled gene Fzd9, the mouse homolog of FZD9 which is deleted in Williams-Beuren syndrome. (10198163)
1999
40
A duplicated gene in the breakpoint regions of the 7q11.23 Williams- Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. (9466987)
1998
41
Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients. (9004128)
1996
42
Strabismus and Williams-Beuren syndrome. Presentation of 3 operated cases]. (8766044)
1996
43
Williams-Beuren syndrome and celiac disease. (8890095)
1996
44
Natural history of body mass index in Williams-Beuren syndrome. (7977462)
1994
45
Dermatoglyphic peculiarities in patients with Williams-Beuren syndrome. (7856657)
1994
46
Williams-Beuren syndrome: a 30-year follow-up of natural and postoperative course. (8299625)
1993
47
Chromosome abnormalities and Williams-Beuren syndrome. (8230171)
1993
48
Statural growth in Williams-Beuren syndrome. (1425797)
1992
49
Calcium metabolism in Williams-Beuren syndrome. (1333009)
1992
50
Cardiac anomalies in Williams-Beuren syndrome. (3415298)
1988

Variations for Williams-Beuren Syndrome

About this section

Expression for genes affiliated with Williams-Beuren Syndrome

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Williams-Beuren Syndrome

About this section

GO Terms for genes affiliated with Williams-Beuren Syndrome

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Williams-Beuren Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular_componentGO:0055759.9TBL2, BCL7B, WBSCR22, WBSCR16

Biological processes related to Williams-Beuren Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1biological_processGO:0081509.9TBL2, BCL7B, WBSCR22, WBSCR16

Molecular functions related to Williams-Beuren Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1poly(A) RNA bindingGO:0448229.7EIF4H, TBL2, NSUN5, WBSCR22, WBSCR16

Products for genes affiliated with Williams-Beuren Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Williams-Beuren Syndrome

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet