MCID: WLL001
MIFTS: 52

Williams-Beuren Syndrome malady

Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Fetal diseases categories

Summaries for Williams-Beuren Syndrome

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46OMIM, 32MalaCards
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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 biliary/gallbladder stones/lithiasis/cholecystitis, malabsorption/chronic diarrhea/steatorrhea and gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia. An important gene associated with Williams-Beuren Syndrome is BAZ1B (bromodomain adjacent to zinc finger domain, 1B). Affiliated tissues include kidney, bone and skin.

Description from OMIM:46 194050

Aliases & Classifications for Williams-Beuren Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
williams-beuren syndrome:
Inheritance: Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

williams-beuren syndrome 8 9 46 10 48
williams syndrome 48 60
fanconi schlesinger syndrome 8
gene deletion abnormality 60
monosomy 7q11.23 48
deletion 7q11.23 48


External Ids:

Disease Ontology8 DOID:1928
NCIt39 C85232
OMIM46 194050
MeSH34 D018980
SNOMED-CT56 63247009
MESH via Orphanet35 D018980
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet57 63247009
UMLS via Orphanet61 C0175702

Related Diseases for Williams-Beuren Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Williams-Beuren Syndrome:



Diseases related to williams-beuren syndrome

Clinical Features for Williams-Beuren Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

194050

Symptoms:

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

Drugs & Therapeutics for Williams-Beuren Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Williams-Beuren Syndrome

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Anatomical Context for Williams-Beuren Syndrome

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32MalaCards
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MalaCards organs/tissues related to Williams-Beuren Syndrome:

32
Kidney, Bone, Skin, Testes, Eye, Thyroid, Tongue, Ovary, Heart, Colon, Brain, T cells

Animal Models for Williams-Beuren Syndrome or affiliated genes

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Publications for Williams-Beuren Syndrome

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Sources:
50PubMed
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Articles related to Williams-Beuren Syndrome:

(show top 50)    (show all 231)
idTitleAuthorsYear
1
Ocular Features in 16 Brazilian Patients with Williams-Beuren Syndrome. (24417560)
2014
2
Clinical and neuropsychiatric status in children with Williams-Beuren Syndrome in Upper Egypt. (24309873)
2013
3
Williams-Beuren syndrome with brain malformation and hypertrophic cardiomyopathy. (23899771)
2013
4
Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome. (24065682)
2013
5
The clinical and genetic distinction between familial supravalvular aortic stenosis (Eisenberg syndrome) and Williams-Beuren syndrome. (22843229)
2012
6
Growth defects and impaired cognitive-behavioral abilities in mice with knockout for Eif4h, a gene located in the mouse homolog of the Williams-Beuren syndrome critical region. (22234171)
2012
7
Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype. (22412832)
2012
8
The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome. (22608712)
2012
9
Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome. (22319452)
2012
10
The Williams-Beuren Syndrome-a window into genetic variants leading to the development of cardiovascular disease. (22319454)
2012
11
A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome. (23118870)
2012
12
John C. P. Williams of Williams-Beuren syndrome. (21107555)
2011
13
Induced chromosome deletion in a Williams-Beuren syndrome mouse model causes cardiovascular abnormalities. (20926892)
2011
14
Behavioural features of Italian infants and young adults with Williams-Beuren syndrome. (21205040)
2011
15
Anthropometric and body-mass composition suggests an intrinsic feature in Williams-Beuren syndrome. (22249549)
2011
16
Chromosomal instability at the 7q11.23 region impacts on DNA-damage response in lymphocytes from Williams-Beuren syndrome patients. (21645633)
2011
17
Endoarterial scoring--a novel treatment for resistant pulmonary arterial lesions associated with Williams-Beuren syndrome. (20351395)
2010
18
An unusual attraction to the eyes in Williams-Beuren syndrome: a manipulation of facial affect while measuring face scanpaths. (20432078)
2010
19
The course of cognitive-behavioral development in children with the FMR1 mutation, Williams-Beuren syndrome, and neurofibromatosis type 1: The effect of gender. (20503326)
2010
20
Keratoconus associated with Williams-Beuren syndrome: first case reports. (21067490)
2010
21
Williams-Beuren syndrome: an unusual cause of neonatal and infantile coarctation. (20832827)
2010
22
Periodontal conditions in Williams Beuren syndrome: a series of 8 cases. (18793597)
2008
23
Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders. (18037993)
2007
24
Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension. (16532385)
2006
25
Laterality in persons with intellectual disability II. Hand, foot, ear, and eye laterality in persons with Trisomy 21 and Williams-Beuren syndrome. (16886186)
2006
26
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions. (15994861)
2006
27
Sigmoid diverticulitis in patients with Williams-Beuren syndrome: relatively high prevalence and high complication rate in young adults with the syndrome. (16007633)
2005
28
Visual depth processing in Williams-Beuren syndrome. (15965761)
2005
29
Increased prevalences of left-handedness and left-eye sighting dominance in individuals with Williams-Beuren syndrome. (16207621)
2005
30
Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study. (14967851)
2004
31
Risk of sudden death in the Williams-Beuren syndrome. (15150772)
2004
32
Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome. (12566524)
2003
33
Williams (Williams Beuren) syndrome: a distinct neurobehavioral disorder. (11305686)
2001
34
Anomalies of the abdominal aorta in Williams-Beuren syndrome--another cause of arterial hypertension. (11760021)
2001
35
Music skills and the expressive interpretation of music in children with Williams-Beuren syndrome: pitch, rhythm, melodic imagery, phrasing, and musical affect. (11815880)
2001
36
Integration of a c-myc transgene results in disruption of the mouse Gtf2ird1 gene, the homologue of the human GTF2IRD1 gene hemizygously deleted in Williams-Beuren syndrome. (11352562)
2001
37
Metacarpophalangeal pattern profile (MCPP) analysis in Williams-Beuren Syndrome (WBS). (11170085)
2001
38
STAG3, a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the Williams- Beuren syndrome deletion. (10698974)
2000
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
Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism. (10205282)
1999
41
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
42
Case report: essential iris atrophy in the Williams-Beuren syndrome. (9850508)
1998
43
Familial Williams-Beuren syndrome. (9880214)
1998
44
Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms. (9003495)
1997
45
Aortic stiffness with the Williams-Beuren syndrome. (9142724)
1997
46
Adults with Williams-Beuren syndrome: evaluation of the medical, psychological and behavioral aspects. (7820925)
1994
47
Williams-Beuren syndrome in monozygotic twins with variable expression. (8256808)
1993
48
Statural growth in Williams-Beuren syndrome. (1425797)
1992
49
Calcium metabolism in Williams-Beuren syndrome. (1333009)
1992
50
The calcitonin-CGRP gene in the infantile hypercalcaemia/Williams-Beuren syndrome. (2486208)
1989

Genetic Variations for Williams-Beuren Syndrome

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Expression for genes affiliated with Williams-Beuren Syndrome

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

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Pathways for genes affiliated with Williams-Beuren Syndrome

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Compounds for genes affiliated with Williams-Beuren Syndrome

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GO Terms for genes affiliated with Williams-Beuren Syndrome

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Products for genes affiliated with Williams-Beuren Syndrome

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  • Antibodies
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Sources for Williams-Beuren Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet