MCID: WLL001
MIFTS: 58

Williams-Beuren Syndrome malady

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

Aliases & Classifications for Williams-Beuren Syndrome

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 47Orphanet, 63Wikipedia, 20GeneTests, 42NINDS, 43Novoseek, 22GTR, 60UMLS, 38NCIt, 33MeSH, 55SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Williams-Beuren Syndrome, Aliases & Descriptions:

Name: Williams-Beuren Syndrome 45 9 10 19 41 21 11 47
Williams Syndrome 63 19 41 20 21 42 43 47 22 60
Deletion 7q11.23 41 47
Monosomy 7q11.23 41 47
Wms 41 21
Wbs 41 21
Hypercalcemia-Supravalvar Aortic Stenosis 21
Hypercalcemia, Idiopathic, of Infancy 60
 
Supravalvar Aortic Stenosis Syndrome 21
Elfin Facies with Hypercalcemia 21
Fanconi Schlesinger Syndrome 9
Infantile Hypercalcemia 21
Elfin Facies Syndrome 21
Beuren Syndrome 21
Ws 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
williams syndrome:
Inheritance: Not applicable; Prevalence: 1-5/10000 (Worldwide),1-9/100000 (Europe); Age of onset: Antenatal,Neonatal


External Ids:

OMIM45 194050
Disease Ontology9 DOID:1928
NCIt38 C85232
MeSH33 D018980
SNOMED-CT55 63247009
Orphanet47 904
MESH via Orphanet34 D018980
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C0175702

Summaries for Williams-Beuren Syndrome

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NINDS:42 Williams Syndrome (WS) is a rare genetic disorder characterized by mild to moderate mental retardation or learning difficulties, a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety. The most significant medical problem associated with WS is cardiovascular disease caused by narrowed arteries. WS is also associated with elevated blood calcium levels in infancy. A random genetic mutation (deletion of a small piece of chromosome 7), rather than inheritance, most often causes the disorder. However, individuals who have WS have a 50 percent chance of passing it on if they decide to have children. The characteristic facial features of WS include puffiness around the eyes, a short nose with a broad nasal tip, wide mouth, full cheeks, full lips, and a small chin. People with WS are also likely to have a long neck, sloping shoulders, short stature, limited mobility in their joints, and curvature of the spine. Some individuals with WS have a star-like pattern in the iris of their eyes. Infants with WS are often irritable and colicky, with feeding problems that keep them from gaining weight. Chronic abdominal pain is common in adolescents and adults. By age 30, the majority of individuals with WS have diabetes or pre-diabetes and mild to moderate sensorineural hearing loss (a form of deafness due to disturbed function of the auditory nerve). For some people, hearing loss may begin as early as late childhood. WS also is associated with a characteristic ?cognitive profile? of mental strengths and weaknesses composed of strengths in verbal short-term memory and language, combined with severe weakness in visuospatial construction (the skills used to copy patterns, draw, or write). Within language, the strongest skills are typically in concrete, practical vocabulary, which in many cases is in the low average to average range for the general population. Abstract or conceptual-relational vocabulary is much more limited. Most older children and adults with WS speak fluently and use good grammar. More than 50% of children with WS have attention deficit disorders (ADD or ADHD), and about 50% have specific phobias, such as a fear of loud noises. The majority of individuals with WS worry excessively.

MalaCards based summary: Williams-Beuren Syndrome, also known as williams syndrome, is related to supravalvar aortic stenosis and down syndrome, and has symptoms including wide mouth, abnormality of the tongue and thick lower lip vermilion. An important gene associated with Williams-Beuren Syndrome is ELN (elastin). Affiliated tissues include heart, kidney and bone, and related mouse phenotype adipose tissue.

Genetics Home Reference:21 Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.

NIH Rare Diseases:41 Williams syndrome is a developmental disorder that affects many parts of the body. this condition is characterized by mild to moderate intellectual disability, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. williams syndrome is caused by missing genes from a specific region of chromosome 7. the deleted region includes more than 25 genes and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. although williams syndrome is considered an autosomal dominant condition, most cases are not inherited, but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. last updated: 11/16/2011

OMIM:45 Williams-Beuren syndrome is a multisystem disorder caused by hemizygous deletion of 1.5 to 1.8 Mb on chromosome... (194050) more...

Wikipedia:63 Williams syndrome (WS), also known as Williams?Beuren syndrome (WBS), is a rare neurodevelopmental... more...

GeneReviews summary for williams

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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Symptoms by clinical synopsis from OMIM:

194050

Clinical features from OMIM:

194050

Symptoms:

 47 (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 246)
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 anxiety 80% HP:0000739
39 recurrent urinary tract infections common (75%) HP:0000010
40 recurrent otitis media common (75%) HP:0000403
41 strabismus common (75%) HP:0000486
42 hypodontia common (75%) HP:0000668
43 diabetes mellitus common (75%) HP:0000819
44 osteopenia common (75%) HP:0000938
45 osteoporosis common (75%) HP:0000939
46 intellectual disability common (75%) HP:0001249
47 muscular hypotonia common (75%) HP:0001252
48 hyperreflexia common (75%) HP:0001347
49 flexion contracture common (75%) HP:0001371
50 joint laxity common (75%) HP:0001388
51 mitral valve prolapse common (75%) HP:0001634
52 pulmonic stenosis common (75%) HP:0001642
53 mitral regurgitation common (75%) HP:0001653
54 constipation common (75%) HP:0002019
55 gastroesophageal reflux common (75%) HP:0002020
56 rectal prolapse common (75%) HP:0002035
57 premature graying of hair common (75%) HP:0002216
58 short stature common (75%) HP:0004322
59 supravalvular aortic stenosis common (75%) HP:0004381
60 peripheral pulmonary artery stenosis common (75%) HP:0004969
61 coronary artery stenosis common (75%) HP:0005145
62 hyperacusis common (75%) HP:0010780
63 failure to thrive in infancy 70% HP:0001531
64 thick lower lip vermilion typical (50%) HP:0000179
65 open mouth typical (50%) HP:0000194
66 epicanthus typical (50%) HP:0000286
67 full cheeks typical (50%) HP:0000293
68 narrow forehead typical (50%) HP:0000341
69 long philtrum typical (50%) HP:0000343
70 broad nasal tip typical (50%) HP:0000455
71 blepharophimosis typical (50%) HP:0000581
72 periorbital fullness typical (50%) HP:0000629
73 blue irides typical (50%) HP:0000635
74 cutis laxa typical (50%) HP:0000973
75 soft skin typical (50%) HP:0000977
76 obesity typical (50%) HP:0001513
77 hoarse voice typical (50%) HP:0001609
78 small nail typical (50%) HP:0001792
79 hallux valgus typical (50%) HP:0001822
80 phonophobia typical (50%) HP:0002183
81 short nose typical (50%) HP:0003196
82 depressed nasal bridge typical (50%) HP:0005280
83 urethral stenosis typical (50%) HP:0008661
84 feeding difficulties in infancy typical (50%) HP:0008872
85 large earlobe typical (50%) HP:0009748
86 medial flaring of the eyebrow typical (50%) HP:0010747
87 impaired visuospatial constructive cognition typical (50%) HP:0010794
88 early onset of sexual maturation typical (50%) HP:0100000
89 down-sloping shoulders typical (50%) HP:0200021
90 renal insufficiency typical (50%) HP:0000083
91 proteinuria typical (50%) HP:0000093
92 microcephaly typical (50%) HP:0000252
93 otitis media typical (50%) HP:0000388
94 sensorineural hearing impairment typical (50%) HP:0000407
95 strabismus typical (50%) HP:0000486
96 visual impairment typical (50%) HP:0000505
97 abnormality of dental enamel typical (50%) HP:0000682
98 microdontia typical (50%) HP:0000691
99 autism typical (50%) HP:0000717
100 obsessive-compulsive behavior typical (50%) HP:0000722
101 sacral dimple typical (50%) HP:0000960
102 abnormality of the fingernails typical (50%) HP:0001231
103 muscular hypotonia typical (50%) HP:0001252
104 hypertonia typical (50%) HP:0001276
105 flexion contracture typical (50%) HP:0001371
106 limitation of joint mobility typical (50%) HP:0001376
107 abnormality of the mitral valve typical (50%) HP:0001633
108 pes planus typical (50%) HP:0001763
109 hypoplastic toenails typical (50%) HP:0001800
110 nausea and vomiting typical (50%) HP:0002017
111 constipation typical (50%) HP:0002019
112 hypercalciuria typical (50%) HP:0002150
113 cerebral ischemia typical (50%) HP:0002637
114 kyphosis typical (50%) HP:0002808
115 arthralgia typical (50%) HP:0002829
116 genu valgum typical (50%) HP:0002857
117 abnormality of the shoulder typical (50%) HP:0003043
118 hyperlordosis typical (50%) HP:0003307
119 clinodactyly of the 5th finger typical (50%) HP:0004209
120 abnormality of the pulmonary artery typical (50%) HP:0004414
121 bowel diverticulosis typical (50%) HP:0005222
122 reduced number of teeth typical (50%) HP:0009804
123 cheekbone underdevelopment typical (50%) HP:0010669
124 abnormal localization of kidney typical (50%) HP:0100542
125 insomnia typical (50%) HP:0100785
126 renovascular hypertension typical (50%) HP:0100817
127 bladder diverticulum frequent (33%) HP:0000015
128 sensorineural hearing impairment frequent (33%) HP:0000407
129 dental malocclusion frequent (33%) HP:0000689
130 microdontia frequent (33%) HP:0000691
131 gait imbalance frequent (33%) HP:0002141
132 incoordination frequent (33%) HP:0002311
133 kyphoscoliosis frequent (33%) HP:0002751
134 attention deficit hyperactivity disorder frequent (33%) HP:0007018
135 hypercalciuria 30% HP:0002150
136 colonic diverticulosis 30% HP:0002253
137 myxomatous mitral valve degeneration 20% HP:0004764
138 cerebellar hypoplasia 15% HP:0001321
139 hypercalcemia 15% HP:0003072
140 nephrocalcinosis 10% HP:0000121
141 hypothyroidism 10% HP:0000821
142 arnold-chiari type i malformation 10% HP:0007099
143 inguinal hernia occasional (7.5%) HP:0000023
144 micropenis occasional (7.5%) HP:0000054
145 malar flattening occasional (7.5%) HP:0000272
146 abnormality of refraction occasional (7.5%) HP:0000539
147 hypotelorism occasional (7.5%) HP:0000601
148 amblyopia occasional (7.5%) HP:0000646
149 pectus excavatum occasional (7.5%) HP:0000767
150 retinal arteriolar tortuosity occasional (7.5%) HP:0001136
151 portal hypertension occasional (7.5%) HP:0001409
152 umbilical hernia occasional (7.5%) HP:0001537
153 vocal cord paralysis occasional (7.5%) HP:0001605
154 ventricular septal defect occasional (7.5%) HP:0001629
155 defect in the atrial septum occasional (7.5%) HP:0001631
156 sleep disturbance occasional (7.5%) HP:0002360
157 celiac disease occasional (7.5%) HP:0002608
158 radioulnar synostosis occasional (7.5%) HP:0002974
159 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
160 recurrent urinary tract infections occasional (7.5%) HP:0000010
161 bladder diverticulum occasional (7.5%) HP:0000015
162 functional abnormality of male internal genitalia occasional (7.5%) HP:0000025
163 cryptorchidism occasional (7.5%) HP:0000028
164 renal duplication occasional (7.5%) HP:0000075
165 vesicoureteral reflux occasional (7.5%) HP:0000076
166 polycystic kidney dysplasia occasional (7.5%) HP:0000113
167 nephrocalcinosis occasional (7.5%) HP:0000121
168 polycystic ovaries occasional (7.5%) HP:0000147
169 gingival overgrowth occasional (7.5%) HP:0000212
170 megalocornea occasional (7.5%) HP:0000485
171 glaucoma occasional (7.5%) HP:0000501
172 cataract occasional (7.5%) HP:0000518
173 myopia occasional (7.5%) HP:0000545
174 posterior embryotoxon occasional (7.5%) HP:0000627
175 lacrimation abnormality occasional (7.5%) HP:0000632
176 carious teeth occasional (7.5%) HP:0000670
177 nephrolithiasis occasional (7.5%) HP:0000787
178 abnormality of the urethra occasional (7.5%) HP:0000795
179 hypothyroidism occasional (7.5%) HP:0000821
180 precocious puberty occasional (7.5%) HP:0000826
181 biliary tract abnormality occasional (7.5%) HP:0001080
182 adducted thumb occasional (7.5%) HP:0001181
183 joint hypermobility occasional (7.5%) HP:0001382
184 congestive heart failure occasional (7.5%) HP:0001635
185 tetralogy of fallot occasional (7.5%) HP:0001636
186 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
187 cardiomegaly occasional (7.5%) HP:0001640
188 patent ductus arteriosus occasional (7.5%) HP:0001643
189 sudden cardiac death occasional (7.5%) HP:0001645
190 abnormality of the aortic valve occasional (7.5%) HP:0001646
191 coronary artery disease occasional (7.5%) HP:0001677
192 malabsorption occasional (7.5%) HP:0002024
193 cerebral cortical atrophy occasional (7.5%) HP:0002120
194 neurological speech impairment occasional (7.5%) HP:0002167
195 recurrent respiratory infections occasional (7.5%) HP:0002205
196 arnold-chiari malformation occasional (7.5%) HP:0002308
197 developmental regression occasional (7.5%) HP:0002376
198 tracheoesophageal fistula occasional (7.5%) HP:0002575
199 overriding aorta occasional (7.5%) HP:0002623
200 scoliosis occasional (7.5%) HP:0002650
201 delayed skeletal maturation occasional (7.5%) HP:0002750
202 patellar dislocation occasional (7.5%) HP:0002999
203 abnormality of the ankles occasional (7.5%) HP:0003028
204 abnormality of lipid metabolism occasional (7.5%) HP:0003119
205 myopathy occasional (7.5%) HP:0003198
206 spina bifida occulta occasional (7.5%) HP:0003298
207 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
208 vertebral segmentation defect occasional (7.5%) HP:0003422
209 abnormality of the gastric mucosa occasional (7.5%) HP:0004295
210 abnormality of the endocardium occasional (7.5%) HP:0004306
211 reduced bone mineral density occasional (7.5%) HP:0004349
212 abnormality of the carotid arteries occasional (7.5%) HP:0005344
213 type ii diabetes mellitus occasional (7.5%) HP:0005978
214 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
215 abnormal dermatoglyphics occasional (7.5%) HP:0007477
216 prematurely aged appearance occasional (7.5%) HP:0007495
217 flat cornea occasional (7.5%) HP:0007720
218 opacification of the corneal stroma occasional (7.5%) HP:0007759
219 abnormality of the retinal vasculature occasional (7.5%) HP:0008046
220 aplasia/hypoplasia of the iris occasional (7.5%) HP:0008053
221 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
222 hypoplasia of penis occasional (7.5%) HP:0008736
223 abnormality of the diencephalon occasional (7.5%) HP:0010662
224 increased nuchal translucency occasional (7.5%) HP:0010880
225 increased bone mineral density occasional (7.5%) HP:0011001
226 renal artery stenosis rare (5%) HP:0001920
227 stroke very rare (1%) HP:0001297
228 everted lower lip vermilion HP:0000232
229 malar flattening HP:0000272
230 microdontia HP:0000691
231 short attention span HP:0000736
232 intellectual disability HP:0001249
233 aortic valve stenosis HP:0001650
234 short stature HP:0004322
235 autosomal dominant inheritance HP:0000006
236 vesicoureteral reflux HP:0000076
237 renal insufficiency HP:0000083
238 renal hypoplasia HP:0000089
239 pelvic kidney HP:0000125
240 enuresis HP:0000805
241 glucose intolerance HP:0000833
242 intrauterine growth retardation HP:0001511
243 bicuspid aortic valve HP:0001647
244 poor coordination HP:0002370
245 obsessive-compulsive trait HP:0008770
246 chronic constipation HP:0012450

Drugs & Therapeutics for Williams-Beuren Syndrome

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Drug clinical trials:

Search ClinicalTrials for Williams-Beuren Syndrome

Search NIH Clinical Center for Williams-Beuren Syndrome

Genetic Tests for Williams-Beuren Syndrome

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Genetic tests related to Williams-Beuren Syndrome:

id Genetic test Affiliating Genes
1 Williams Syndrome20 22 ELN

Anatomical Context for Williams-Beuren Syndrome

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MalaCards organs/tissues related to Williams-Beuren Syndrome:

31
Heart, Kidney, Bone, Eye, Skin, Colon, Ovary, Testes, Tongue, Thyroid, Brain, T cells

Animal Models for Williams-Beuren Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Williams-Beuren Syndrome:

35
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 247)
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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Search GEO for disease gene expression data for Williams-Beuren Syndrome.

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cellular_componentGO:00055759.4TBL2, WBSCR22, WBSCR16, ABHD11

Biological processes related to Williams-Beuren Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1biological_processGO:00081509.4TBL2, WBSCR22, WBSCR16, ABHD11

Molecular functions related to Williams-Beuren Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1poly(A) RNA bindingGO:00448229.1EIF4H, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet