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
Clinical expression of familial Williams-Beuren syndrome in a Turkish family. (24057591)
2014
2
Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome. (23401415)
2013
3
Healthcare transition in patients with rare genetic disorders with and without developmental disability: neurofibromatosis 1 and Williams-Beuren syndrome. (23696535)
2013
4
A putative polypeptide N-acetylgalactosaminyltransferase/Williams-Beuren syndrome chromosome region 17 (WBSCR17) regulates lamellipodium formation and macropinocytosis. (22787146)
2012
5
Orofacial findings and dental management of Williams-Beuren syndrome. (23019840)
2012
6
Williams-Beuren syndrome hypercalcemia: is TRPC3 a novel mediator in calcium homeostasis? (22566418)
2012
7
Behavioral features of Williams Beuren syndrome compared to Fragile X syndrome and subjects with intellectual disability without defined etiology. (21211940)
2011
8
Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndrome. (21304579)
2011
9
Pelvic hypoplastic kidney in a patient with Williams-Beuren syndrome. (21761019)
2011
10
The mystery of Williams-Beuren syndrome associated with pulmonary dysfunction, sudden death, and Kounis syndrome. (20683982)
2010
11
Williams-Beuren syndrome. (20393184)
2010
12
Pulmonary function and emphysema in Williams-Beuren syndrome. (20186780)
2010
13
Transcriptome profile in Williams-Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits. (20401492)
2010
14
Ischemic stroke in Williams-Beuren syndrome: a case report. (19502139)
2009
15
Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase. (18398435)
2008
16
Enlargement of the ascending aorta with Brom technique in a patient with Williams-Beuren syndrome. (19082339)
2008
17
Detection of Hemizygous Chromosomal Copy Number Variants in Williams-Beuren Syndrome (WBS) by Duplex Quantitative PCR Array: An Unusual Type of WBS Genetic Defect. (23675084)
2008
18
Transitional implants in a patient with Williams-Beuren syndrome: a four-year follow-up. (17658187)
2007
19
Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients. (17625998)
2007
20
Genetics and language in Williams-Beuren Syndrome: a distinct neurobehavioral disorder]. (17180802)
2006
21
Characterisation of a non-recurrent familial translocation t(7;9)(q11.23;p24.3) points to a recurrent involvement of the Williams-Beuren syndrome region in chromosomal rearrangements. (16328081)
2006
22
Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6. (15770126)
2005
23
The role of dental evaluation and cephalometric analysis in the diagnosis of Williams-Beuren syndrome. (15875763)
2005
24
Williams-Beuren syndrome critical region-5/non-T-cell activation linker: a novel target gene of AML1/ETO. (15489901)
2004
25
Exploring Williams-Beuren syndrome using myGrid. (15262813)
2004
26
Severely calcified valvular aortic stenosis firstly diagnosed in monozygotic male twins with suspected Williams-Beuren syndrome. (15557730)
2004
27
Partial deletion of the critical 1.5 Mb interval in Williams-Beuren syndrome. (12920091)
2003
28
Spontaneous intracerebral hemorrhage and multiple infarction in Williams-Beuren syndrome. (14734869)
2003
29
The role of a Williams-Beuren syndrome-associated helix-loop-helix domain-containing transcription factor in activin/nodal signaling. (11937490)
2002
30
Arterial hypertension in a child with Williams-Beuren syndrome (7q11.23 chromosomal deletion). (12219191)
2002
31
Renal tract ultrasonography and calcium homeostasis in Williams-Beuren syndrome. (12432430)
2002
32
WBSCR14, a gene mapping to the Williams-Beuren syndrome deleted region, is a new member of the Mlx transcription factor network. (11230181)
2001
33
Familial Williams-Beuren syndrome showing varying clinical expression. (11170076)
2001
34
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
35
WBSCR14, a putative transcription factor gene deleted in Williams- Beuren syndrome: complete characterisation of the human gene and the mouse ortholog. (10780788)
2000
36
Structure of the PHD zinc finger from human Williams-Beuren syndrome transcription factor. (11124022)
2000
37
Williams syndrome(Williams-Beuren syndrome), elfin face syndrome]. (11057222)
2000
38
A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23. (10631136)
2000
39
Williams-Beuren syndrome 35 years after the diagnosis in one of the first Beuren patients. (10766991)
2000
40
Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23. (10575229)
1999
41
Growth hormone treatment in a child with Williams-Beuren syndrome: a case report. (10378390)
1999
42
Williams-Beuren syndrome: an update and review for the primary physician. (10326175)
1999
43
Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome. (10198167)
1999
44
Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23. (9858827)
1998
45
Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients. (9004128)
1996
46
Williams-Beuren syndrome and celiac disease. (8890095)
1996
47
Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion. (8661020)
1996
48
Specific eating and sleeping problems in Prader-Willi and Williams-Beuren syndrome. (8735669)
1996
49
Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus. (7545578)
1995
50
Spectrum of cardiovascular anomalies in Williams-Beuren syndrome. (1946010)
1991

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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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