MCID: WLL001
MIFTS: 54

Williams-Beuren Syndrome malady

Genetic diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Fetal diseases, Rare diseases categories
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Summaries for Williams-Beuren Syndrome

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MalaCards based summary: Williams-Beuren Syndrome, also known as fanconi schlesinger syndrome, is related to supravalvular aortic stenosis and williams syndrome, 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 kidney, bone and skin, and related mouse phenotype adipose tissue.

Description from OMIM:46 194050

Aliases & Classifications for Williams-Beuren Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 46OMIM, 10DISEASES, 48Orphanet, 62UMLS, 34MeSH, 39NCIt, 57SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Williams-Beuren Syndrome, Aliases & Descriptions:

Name: Williams-Beuren Syndrome 8 9 46 10 48 62
Fanconi Schlesinger Syndrome 8 62
Williams Syndrome 48 62
 
Gene Deletion Abnormality 62
Deletion 7q11.23 48
Monosomy 7q11.23 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:1928
OMIM46 194050
MeSH34 D018980
NCIt39 C85232
SNOMED-CT57 63247009
MESH via Orphanet35 D018980
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 C0175702

Related Diseases for Williams-Beuren Syndrome

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



Diseases related to williams-beuren syndrome

Symptoms for Williams-Beuren Syndrome

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Clinical features from OMIM:

194050

Symptoms:

48 (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

HPO human phenotypes related to Williams-Beuren Syndrome:

(show all 155)
id Description Frequency HPO Source Accession
1 wide mouth hallmark (90%) HP:0000154
2 abnormality of the tongue hallmark (90%) HP:0000157
3 thick lower lip vermilion hallmark (90%) HP:0000179
4 everted lower lip vermilion hallmark (90%) HP:0000232
5 narrow face hallmark (90%) HP:0000275
6 coarse facial features hallmark (90%) HP:0000280
7 epicanthus hallmark (90%) HP:0000286
8 pointed chin hallmark (90%) HP:0000307
9 broad forehead hallmark (90%) HP:0000337
10 long philtrum hallmark (90%) HP:0000343
11 micrognathia hallmark (90%) HP:0000347
12 high forehead hallmark (90%) HP:0000348
13 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
14 macrotia hallmark (90%) HP:0000400
15 abnormality of the neck hallmark (90%) HP:0000464
16 hypermetropia hallmark (90%) HP:0000540
17 blepharophimosis hallmark (90%) HP:0000581
18 dental malocclusion hallmark (90%) HP:0000689
19 gait disturbance hallmark (90%) HP:0001288
20 tremor hallmark (90%) HP:0001337
21 hyperreflexia hallmark (90%) HP:0001347
22 abnormality of the voice hallmark (90%) HP:0001608
23 abnormality of the aortic valve hallmark (90%) HP:0001646
24 abdominal pain hallmark (90%) HP:0002027
25 abnormality of extrapyramidal motor function hallmark (90%) HP:0002071
26 neurological speech impairment hallmark (90%) HP:0002167
27 incoordination hallmark (90%) HP:0002311
28 abnormality of pelvic girdle bone morphology hallmark (90%) HP:0002644
29 hypercalcemia hallmark (90%) HP:0003072
30 involuntary movements hallmark (90%) HP:0004305
31 short stature hallmark (90%) HP:0004322
32 elfin facies hallmark (90%) HP:0004428
33 abnormal nasal morphology hallmark (90%) HP:0005105
34 attention deficit hyperactivity disorder hallmark (90%) HP:0007018
35 hyperacusis hallmark (90%) HP:0010780
36 periorbital edema hallmark (90%) HP:0100539
37 cognitive impairment hallmark (90%) HP:0100543
38 renal insufficiency typical (50%) HP:0000083
39 proteinuria typical (50%) HP:0000093
40 microcephaly typical (50%) HP:0000252
41 otitis media typical (50%) HP:0000388
42 sensorineural hearing impairment typical (50%) HP:0000407
43 strabismus typical (50%) HP:0000486
44 visual impairment typical (50%) HP:0000505
45 abnormality of dental enamel typical (50%) HP:0000682
46 microdontia typical (50%) HP:0000691
47 autism typical (50%) HP:0000717
48 obsessive-compulsive behavior typical (50%) HP:0000722
49 sacral dimple typical (50%) HP:0000960
50 cutis laxa typical (50%) HP:0000973
51 abnormality of the fingernails typical (50%) HP:0001231
52 muscular hypotonia typical (50%) HP:0001252
53 hypertonia typical (50%) HP:0001276
54 flexion contracture typical (50%) HP:0001371
55 limitation of joint mobility typical (50%) HP:0001376
56 obesity typical (50%) HP:0001513
57 abnormality of the mitral valve typical (50%) HP:0001633
58 pes planus typical (50%) HP:0001763
59 hypoplastic toenails typical (50%) HP:0001800
60 hallux valgus typical (50%) HP:0001822
61 nausea and vomiting typical (50%) HP:0002017
62 constipation typical (50%) HP:0002019
63 hypercalciuria typical (50%) HP:0002150
64 cerebral ischemia typical (50%) HP:0002637
65 kyphosis typical (50%) HP:0002808
66 arthralgia typical (50%) HP:0002829
67 genu valgum typical (50%) HP:0002857
68 abnormality of the shoulder typical (50%) HP:0003043
69 hyperlordosis typical (50%) HP:0003307
70 clinodactyly of the 5th finger typical (50%) HP:0004209
71 abnormality of the pulmonary artery typical (50%) HP:0004414
72 bowel diverticulosis typical (50%) HP:0005222
73 reduced number of teeth typical (50%) HP:0009804
74 cheekbone underdevelopment typical (50%) HP:0010669
75 abnormal localization of kidney typical (50%) HP:0100542
76 insomnia typical (50%) HP:0100785
77 renovascular hypertension typical (50%) HP:0100817
78 recurrent urinary tract infections occasional (7.5%) HP:0000010
79 bladder diverticulum occasional (7.5%) HP:0000015
80 functional abnormality of male internal genitalia occasional (7.5%) HP:0000025
81 cryptorchidism occasional (7.5%) HP:0000028
82 renal duplication occasional (7.5%) HP:0000075
83 vesicoureteral reflux occasional (7.5%) HP:0000076
84 polycystic kidney dysplasia occasional (7.5%) HP:0000113
85 nephrocalcinosis occasional (7.5%) HP:0000121
86 polycystic ovaries occasional (7.5%) HP:0000147
87 gingival overgrowth occasional (7.5%) HP:0000212
88 megalocornea occasional (7.5%) HP:0000485
89 glaucoma occasional (7.5%) HP:0000501
90 cataract occasional (7.5%) HP:0000518
91 myopia occasional (7.5%) HP:0000545
92 posterior embryotoxon occasional (7.5%) HP:0000627
93 lacrimation abnormality occasional (7.5%) HP:0000632
94 carious teeth occasional (7.5%) HP:0000670
95 pectus excavatum occasional (7.5%) HP:0000767
96 nephrolithiasis occasional (7.5%) HP:0000787
97 abnormality of the urethra occasional (7.5%) HP:0000795
98 hypothyroidism occasional (7.5%) HP:0000821
99 precocious puberty occasional (7.5%) HP:0000826
100 biliary tract abnormality occasional (7.5%) HP:0001080
101 adducted thumb occasional (7.5%) HP:0001181
102 joint hypermobility occasional (7.5%) HP:0001382
103 umbilical hernia occasional (7.5%) HP:0001537
104 ventricular septal defect occasional (7.5%) HP:0001629
105 defect in the atrial septum occasional (7.5%) HP:0001631
106 congestive heart failure occasional (7.5%) HP:0001635
107 tetralogy of fallot occasional (7.5%) HP:0001636
108 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
109 cardiomegaly occasional (7.5%) HP:0001640
110 patent ductus arteriosus occasional (7.5%) HP:0001643
111 sudden cardiac death occasional (7.5%) HP:0001645
112 abnormality of the aortic valve occasional (7.5%) HP:0001646
113 coronary artery disease occasional (7.5%) HP:0001677
114 malabsorption occasional (7.5%) HP:0002024
115 cerebral cortical atrophy occasional (7.5%) HP:0002120
116 neurological speech impairment occasional (7.5%) HP:0002167
117 recurrent respiratory infections occasional (7.5%) HP:0002205
118 arnold-chiari malformation occasional (7.5%) HP:0002308
119 developmental regression occasional (7.5%) HP:0002376
120 tracheoesophageal fistula occasional (7.5%) HP:0002575
121 overriding aorta occasional (7.5%) HP:0002623
122 scoliosis occasional (7.5%) HP:0002650
123 delayed skeletal maturation occasional (7.5%) HP:0002750
124 radioulnar synostosis occasional (7.5%) HP:0002974
125 patellar dislocation occasional (7.5%) HP:0002999
126 abnormality of the ankles occasional (7.5%) HP:0003028
127 abnormality of lipid metabolism occasional (7.5%) HP:0003119
128 myopathy occasional (7.5%) HP:0003198
129 spina bifida occulta occasional (7.5%) HP:0003298
130 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
131 vertebral segmentation defect occasional (7.5%) HP:0003422
132 abnormality of the gastric mucosa occasional (7.5%) HP:0004295
133 abnormality of the endocardium occasional (7.5%) HP:0004306
134 reduced bone mineral density occasional (7.5%) HP:0004349
135 abnormality of the carotid arteries occasional (7.5%) HP:0005344
136 type ii diabetes mellitus occasional (7.5%) HP:0005978
137 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
138 abnormal dermatoglyphics occasional (7.5%) HP:0007477
139 prematurely aged appearance occasional (7.5%) HP:0007495
140 flat cornea occasional (7.5%) HP:0007720
141 opacification of the corneal stroma occasional (7.5%) HP:0007759
142 abnormality of the retinal vasculature occasional (7.5%) HP:0008046
143 aplasia/hypoplasia of the iris occasional (7.5%) HP:0008053
144 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
145 hypoplasia of penis occasional (7.5%) HP:0008736
146 abnormality of the diencephalon occasional (7.5%) HP:0010662
147 increased nuchal translucency occasional (7.5%) HP:0010880
148 increased bone mineral density occasional (7.5%) HP:0011001
149 everted lower lip vermilion HP:0000232
150 malar flattening HP:0000272
151 microdontia HP:0000691
152 short attention span HP:0000736
153 intellectual disability HP:0001249
154 aortic valve stenosis HP:0001650
155 short stature HP:0004322

Drugs & Therapeutics for Williams-Beuren Syndrome

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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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MalaCards organs/tissues related to Williams-Beuren Syndrome:

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

Animal Models for Williams-Beuren Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Williams-Beuren Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.5GTF2IRD1, EIF4H, BAZ1B, MLXIPL

Publications for Williams-Beuren Syndrome

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Articles related to Williams-Beuren Syndrome:

(show top 50)    (show all 246)
idTitleAuthorsYear
1
Prevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center. (25029575)
2014
2
Infantile ictal apneas in a child with williams-beuren syndrome. (23337011)
2013
3
Clinical and neuropsychiatric status in children with Williams-Beuren Syndrome in Upper Egypt. (24309873)
2013
4
A new case of keratoconus associated with Williams-Beuren syndrome. (23167938)
2013
5
A putative polypeptide N-acetylgalactosaminyltransferase/Williams-Beuren syndrome chromosome region 17 (WBSCR17) regulates lamellipodium formation and macropinocytosis. (22787146)
2012
6
Behavioral features of Williams Beuren syndrome compared to Fragile X syndrome and subjects with intellectual disability without defined etiology. (21211940)
2011
7
Hypertensive encephalopathy: a rare presentation of Williams-Beuren Syndrome. (21798143)
2011
8
John C. P. Williams of Williams-Beuren syndrome. (21107555)
2011
9
Endoarterial scoring--a novel treatment for resistant pulmonary arterial lesions associated with Williams-Beuren syndrome. (20351395)
2010
10
Multiple sclerosis in association with Williams-Beuren syndrome. (20958825)
2010
11
An infant with Williams-Beuren syndrome and Ebstein anomaly. (20465859)
2010
12
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient. (19568270)
2010
13
General anaesthesia for a patient with Williams-Beuren syndrome: is sevoflurane and ketamine contraindicated? (19881355)
2010
14
How we approach peripheral pulmonary stenosis in Williams-Beuren syndrome. (19349025)
2009
15
Psychopathological and behavior impairments in Williams-Beuren syndrome: the influence of gender, chronological age, and cognition. (19125360)
2009
16
Transitional implants in a patient with Williams-Beuren syndrome: a four-year follow-up. (17658187)
2007
17
Visual search deficits in Williams-Beuren syndrome. (17010393)
2007
18
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. (16826523)
2006
19
Genetics and language in Williams-Beuren Syndrome: a distinct neurobehavioral disorder]. (17180802)
2006
20
Vascular wall remodeling in patients with supravalvular aortic stenosis and Williams Beuren syndrome. (15832055)
2005
21
Sigmoid diverticulitis in patients with Williams-Beuren syndrome: relatively high prevalence and high complication rate in young adults with the syndrome. (16007633)
2005
22
Growth hormone deficiency in a child with Williams-Beuren syndrome. The response to growth hormone therapy. (15751610)
2005
23
Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6. (15770126)
2005
24
Visual depth processing in Williams-Beuren syndrome. (15965761)
2005
25
Increased prevalences of left-handedness and left-eye sighting dominance in individuals with Williams-Beuren syndrome. (16207621)
2005
26
Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children. (15933846)
2005
27
Williams-Beuren syndrome critical region-5/non-T-cell activation linker: a novel target gene of AML1/ETO. (15489901)
2004
28
Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study. (14967851)
2004
29
Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome. (15388857)
2004
30
Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome. (12566524)
2003
31
Mutational mechanisms of Williams-Beuren syndrome deletions. (12796854)
2003
32
Williams-Beuren syndrome: a challenge for genotype-phenotype correlations. (12952863)
2003
33
The role of a Williams-Beuren syndrome-associated helix-loop-helix domain-containing transcription factor in activin/nodal signaling. (11937490)
2002
34
Arterial hypertension in a child with Williams-Beuren syndrome (7q11.23 chromosomal deletion). (12219191)
2002
35
Identification of additional transcripts in the Williams-Beuren syndrome critical region. (12073013)
2002
36
WBSCR14, a gene mapping to the Williams-Beuren syndrome deleted region, is a new member of the Mlx transcription factor network. (11230181)
2001
37
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
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

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Expression for genes affiliated with Williams-Beuren Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1cellular_componentGO:0055759.4TBL2, WBSCR22, WBSCR16, ABHD11

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

idNameGO IDScoreTop Affiliating Genes
1biological_processGO:0081509.4TBL2, WBSCR22, WBSCR16, ABHD11

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

idNameGO IDScoreTop Affiliating Genes
1poly(A) RNA bindingGO:0448229.2EIF4H, TBL2, NSUN5, WBSCR22, WBSCR16

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet