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Williams syndrome
1 OMIM reference -
17 associated genes
194 connected diseases
180 signs/symptoms
Disease Type of connection
Autosomal dominant cutis laxa
Supravalvular aortic stenosis
Precursor T-cell acute lymphoblastic leukemia
Coffin-Siris syndrome
Hereditary breast and ovarian cancer syndrome
Pseudohypoaldosteronism type 2E
Young adult-onset Parkinsonism
Burkitt lymphoma
Familial thoracic aortic aneurysm and aortic dissection
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Autosomal agammaglobulinemia
Autosomal recessive cutis laxa type 1
Familial rhabdoid tumor
Familial multiple meningioma
17q11 microdeletion syndrome
Hereditary nonpolyposis colon cancer
Estrogen resistance syndrome
Precursor B-cell acute lymphoblastic leukemia
Severe combined immunodeficiency due to DNA-PKcs deficiency
Noonan syndrome
Extraskeletal Ewing sarcoma
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
Acromicric dysplasia
Geleophysic dysplasia
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Isolated ectopia lentis
Marfan syndrome type 1
Neonatal Marfan syndrome
Progeroid and marfanoid aspect-lipodystrophy syndrome
Shprintzen-Goldberg syndrome
Stiff skin syndrome
Weill-Marchesani syndrome
Hypocalcemic vitamin D-resistant rickets
Acrodysostosis
Acrodysostosis with multiple hormone resistance
Carney complex
Familial atrial myxoma
Primary pigmented nodular adrenocortical disease
Synpolydactyly type 2
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
PLCG2-associated antibody deficiency and immune dysregulation
Takayasu arteritis
Ear-patella-short stature syndrome
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Heritable pulmonary arterial hypertension
IMAGe syndrome
Idiopathic pulmonary arterial hypertension
Pulmonary venoocclusive disease
Atypical teratoid tumor
Autosomal dominant hyper-IgE syndrome
Chronic mucocutaneous candidiasis
Hereditary sensorimotor neuropathy with hyperelastic skin
Lethal arteriopathy syndrome due to FBLN4 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Neurofibromatosis type 3
Susceptibility to viral and mycobacterial infections
Congenital contractural arachnodactyly
Congenital stromal corneal dystrophy
Common variable immunodeficiency
46,XY complete gonadal dysgenesis
Cardiofaciocutaneous syndrome
Constitutional mismatch repair deficiency syndrome
Craniopharyngioma
Fibronectin glomerulopathy
Hairy cell leukemia
Hashimoto-Pritzker syndrome
LEOPARD syndrome
Non-polyposis Turcot syndrome
Pilocytic astrocytoma
Potocki-Shaffer syndrome
Typical nemaline myopathy
Budd-Chiari syndrome
Essential thrombocythemia
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Metaphyseal anadysplasia
Primary biliary cirrhosis
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Granulomatosis with polyangiitis
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
Adenylosuccinate lyase deficiency
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Autosomal dominant hypohidrotic ectodermal dysplasia
B-cell chronic lymphocytic leukemia
Behavioral variant of frontotemporal dementia
COFS syndrome
Charcot-Marie-Tooth disease type 4D
Chronic myeloid leukemia
Cockayne syndrome type 1
Cockayne syndrome type 2
Cockayne syndrome type 3
Cystic fibrosis
Dedifferentiated liposarcoma
Distal 22q11.2 microdeletion syndrome
Dyskeratosis congenita
Fabry disease
Hereditary pheochromocytoma-paraganglioma
Hoyeraal-Hreidarsson syndrome
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Isolated adermatoglyphia
Opsismodysplasia
Papillary or follicular thyroid carcinoma
Progressive non-fluent aphasia
Retinitis pigmentosa
Retinopathy - anemia- central nervous system anomalies
Rh deficiency syndrome
Semantic dementia
Severe intellectual deficit and progressive spastic paraplegia
Smith-Magenis syndrome
Spastic paraplegia - Paget disease of bone
Spinocerebellar ataxia type 1
Spinocerebellar ataxia type 26
UV-sensitive syndrome
Warsaw breakage syndrome
Well-differentiated liposarcoma
Wolf-Hirschhorn syndrome
Agnathia - holoprosencephaly - situs inversus
Aneurysm - osteoarthritis syndrome
Acute promyelocytic leukemia
Angelman syndrome
Catecholaminergic polymorphic ventricular tachycardia
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Prader-Willi syndrome due to imprinting mutation
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Prader-Willi syndrome due to translocation
Arthrogryposis-like syndrome
Bruck syndrome
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Osteogenesis imperfecta type 5
Acute neonatal citrullinemia type I
Adult-onset citrullinemia type I
Apolipoprotein A-I deficiency
Autosomal dominant severe congenital neutropenia
Cyclic neutropenia
Familial renal amyloidosis due to lysozyme variant
Hereditary chronic pancreatitis
Hereditary gingival fibromatosis
Tangier disease
Tropical pancreatitis
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Axenfeld anomaly
Axenfeld-Rieger syndrome
Berardinelli-Seip congenital lipodystrophy
Blackfan-Diamond anemia
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial atrial fibrillation
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Isolated NADH-CoQ reductase deficiency
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Leigh syndrome with cardiomyopathy
Leigh syndrome with leukodystrophy
Lethal restrictive dermopathy
Leukoencephalopathy - dystonia - motor neuropathy
Mandibuloacral dysplasia with type A lipodystrophy
Nager syndrome
Osteogenesis imperfecta type 3
Peters anomaly
Progeria-associated arthropathy
Pyruvate dehydrogenase E1-alpha deficiency
Rieger anomaly
Ring dermoid of cornea
Synonym(s):
- Deletion 7q11.23
- Monosomy 7q11.23
- Williams-Beuren syndrome

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 (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
External references:
1 OMIM reference -
1 MeSH reference: D018980

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
- Blepharophimosis / short palpebral fissures
- 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
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fine / elfin-like face
- High forehead
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperactivity / attention deficit
- Hyperacusia
- Hypercalcemia
- Hypereflexia
- Hypermetropia
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- 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
- Pointed chin
- Prominent / bat ears
- Psychic / behavioural troubles
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- 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
- Clinodactyly of fifth finger
- Colonic / intestinal / bowel diverticulosis / diverticulitis
- Complete / partial microdontia
- Constipation
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Ectopic / horseshoe / fused kidneys
- Enamel anomaly
- Flat cheek bones / malar hypoplasia
- Flat foot
- Generalized obesity
- Genu valgum
- Hallux valgus
- Hypercalciuria
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Inguinal / inguinoscrotal / crural hernia
- Insomnia
- Kyphosis
- Loose skin / skin relaxation / excess skin / creases
- Lordosis
- Microcephaly
- Mild visual loss / impaired visual acuity
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Narrow / sloping shoulders
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Obsessive-compulsive disorder
- 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
- Sensorineural deafness / hearing loss
- 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
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Arnold-Chiari anomaly
- Atrial septal defect / interauricular communication
- 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
- Hyperextensible joints / articular hyperlaxity
- 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
- Recurrent urinary infections
- Renal / kidney calcifications / nephrocalcinosis
- Repeat respiratory infections
- 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
- Ventricular septal defect / interventricular communication
- Vertebral segmentation anomaly / hemivertebrae
- Vesicorenal / vesicoureteral reflux