Cytoscape Web
Click node...


1 OMIM reference -
17 associated genes
180 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 23
1 OMIM reference -
3 associated genes
60 signs/symptoms
Williams syndrome
Distal 22q11.2 microdeletion syndrome

BAZ1B BCR
BCL7B CRKL
CLIP2 MAPK1
DNAJC30
EIF4H
ELN
FKBP6
GTF2I
GTF2IRD1
LAT2
LIMK1
MLXIPL
RFC2
TBL2
WBSCR16
WBSCR22
WBSCR27


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GTF2I
(0.63)
MAPK1



Citations in the biomedical literature:


Williams syndrome
BAZ1B BCL7B CLIP2 DNAJC30 EIF4H ELN
FKBP6 GTF2I GTF2IRD1 LAT2 LIMK1 MLXIPL
RFC2 TBL2 WBSCR16 WBSCR22 WBSCR27
Distal 22q11.2 microdeletion syndrome
BCR CRKL MAPK1



Williams syndrome
Distal 22q11.2 microdeletion syndrome

Synonym(s):
- Deletion 7q11.23
- Monosomy 7q11.23
- Williams-Beuren syndrome

Synonym(s):
- Distal del(22)(q11.2)
- Distal monosomy 22q11.2

Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare renal disease
- Rare surgical cardiac disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: D018980
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Atrial septal defect / interauricular communication
- Blepharophimosis / short palpebral fissures
- Clinodactyly of fifth finger
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Flat cheek bones / malar hypoplasia
- Flat foot
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperactivity / attention deficit
- Hyperextensible joints / articular hyperlaxity
- Inguinal / inguinoscrotal / crural hernia
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Lordosis
- Microcephaly
- Obsessive-compulsive disorder
- Pointed chin
- Recurrent urinary infections
- Repeat respiratory infections
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Ventricular septal defect / interventricular communication


Williams syndrome
Distal 22q11.2 microdeletion syndrome

Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Abnormal gait
- Acute abdominal pain / colic
- Alexia / agraphia / writing / reading troubles
- Anomalies of the neck
- Aortic valve atresia / stenosis / narrowing / supra-aortic / supra-valvular stenosis
- Ataxia / incoordination / trouble of the equilibrium
- Broad forehead
- Broad nose / nasal bridge
- Coarse face
- Dental malocclusion
- Diabetes mellitus
- Epicanthic folds
- Everted lower lip
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Extrapyramidal syndrome
- Fine / elfin-like face
- High forehead
- Hyperacusia
- Hypercalcemia
- Hypereflexia
- Hypermetropia
- Long philtrum
- Long / large ear
- Long / large / bulbous nose
- Low set ears / posteriorly rotated ears
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Macrostomia / big mouth
- Micrognathia / retrognathia / micrognathism / retrognathism
- Myoclonus / fasciculations
- Narrow face
- Palpebral edema / periorbital edema
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Prominent / bat ears
- Psychic / behavioural troubles
- Structural anomalies of the cardio-circulatory system
- Structural anomalies of the nervous system
- Thick lips
- Tremor

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Anodontia / oligodontia / hypodontia
- Arterial stenosis / occlusion
- Articular / joint pain / arthralgia
- Autism / autistic disoders
- Bladder and ureter anomalies
- Cerebral vascular anomalies
- Chronic arterial hypertension
- Chronic / relapsing otitis
- Colonic / intestinal / bowel diverticulosis / diverticulitis
- Complete / partial microdontia
- Constipation
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Ectopic / horseshoe / fused kidneys
- Enamel anomaly
- Generalized obesity
- Genu valgum
- Hallux valgus
- Hypercalciuria
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Insomnia
- Kyphosis
- Loose skin / skin relaxation / excess skin / creases
- Mild visual loss / impaired visual acuity
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Narrow / sloping shoulders
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Proteinuria
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Renal failure
- Renovascular hypertension
- Restricted joint mobility / joint stiffness / ankylosis
- Sacral sinus / dimple
- Sphincter dysfunction
- Strabismus / squint
- Thin / hypoplastic toenails
- Thin / hypoplastic / hyperconvex fingernails
- Tooth shape anomaly
- Transient cerebral ischemia / stroke

Occasional
- Abnormal dermatoglyphics
- Abnormal vertebral size / shape
- Abnormal / polycystic ovaries
- Agenesis / hypoplasia / aplasia of kidneys
- Angor pectoris / myocardial infarction
- Aniridia / iris hypoplasia
- Ankle anomalies
- Anomalies of cartilages, joints and periarticular tissue
- Anus / rectum anomalies
- Arnold-Chiari anomaly
- Azoospermia / oligospermia / asthenospermia
- Biliary / gallbladder stones / lithiasis / cholecystitis
- Bladder / vesical diverticulum
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Cardiac septal defect
- Cardiomegaly
- Cardiomyopathy / hypertrophic / dilated
- Carotid artery anomalies
- Cataract / lens opacification
- Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Corneal clouding / opacity / vascularisation
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Defect / anomaly of lacrimal system
- Delayed bone age
- Dextroposition of aorta
- Early death in adulthood
- Ectopic / agenesis / dysgenesis / hypoplastic thyroid
- Elocution disorders / dysarthria / dysphonia
- Embryotoxon
- Endocardium anomalies / fibroelastosis / endocarditis
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis
- Flat cornea
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Glaucoma
- Heart / cardiac failure
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Hypothyroidy
- Increased nuchal translucency
- Insulin-independent / type 2 diabetes
- Interstitial nephropathy
- Late puberty / hypogonadism / hypogenitalism
- Malabsorption / chronic diarrhea / steatorrhea
- Megalocornea
- Micropenis / small penis / agenesis
- Multiple caries
- Myopathy
- Myopia
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Osteosclerosis / osteopetrosis / bone condensation
- Patella dislocation
- Patent ductus arteriosus
- Pectus excavatum
- Polycystic kidneys
- Precocious puberty
- Premature ageing
- Psychic / psychomotor regression / dementia / intellectual decline
- Radioulnar synostosis
- Renal / kidney calcifications / nephrocalcinosis
- Retinal vascular anomalies / retinal telangiectasia
- Scoliosis
- Spina bifida occulta
- Supernumerary kidney
- Synostosis
- Tetralogy of Fallot / trilogy of Fallot
- Thalamic / hypothalamic defect
- Thickened / hypertrophic / fibromatous gingivae
- Tracheo-esophageal fistula / esophageal atresia / stenosis
- Umbilical hernia
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Urethral anomalies / stenosis / posterior urethral valves / megalocystis
- Urinary / renal lithiasis / kidney stones / nephritic colic
- Vertebral segmentation anomaly / hemivertebrae
- Vesicorenal / vesicoureteral reflux


Very frequent
- High arched eyebrows
- Philtrum flat / large / featureless / absent cupidon bows
- Prematurity

Frequent
- Absent / small fingernails / anonychia of hands
- Absent / small toenails / anonychia of feet
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Common arterial trunk / truncal valve
- Deepset eyes / enophthalmos
- External ear anomalies
- Intrauterine growth retardation
- Thin / hypoplastic ala nasi
- Thin / retracted lips

Occasional
- Ankyloglossia / lingual synechiae
- Aortic root dilatation / dilation / aneurysm
- Bowed diaphysis / diaphyses / long bones
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Camptodactyly of some fingers
- Choanal atresia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Encopresis / fecal incontinence
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Gastric / pyloric stenosis
- High nasal bridge
- High vaulted / narrow palate
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Long face
- Long hand / arachnodactyly
- Microstomia / little mouth
- Oculomotor apraxia / dyspraxia
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short hand / brachydactyly
- Syndactyly of toes
- Terminal / third phalangeal bone of fingers hypoplasia
- Tics / stereotypias
- Ulnar deviation of fingers
- Wide space between 1st-2nd toes