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1 OMIM reference -
17 associated genes
180 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6
3 OMIM references -
3 associated genes
15 signs/symptoms
Williams syndrome
Primary pigmented nodular adrenocortical disease

BAZ1B PDE11A
BCL7B PDE8B
CLIP2 PRKAR1A
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)
RFC2
(0.86)
PRKAR1A



Citations in the biomedical literature:


Williams syndrome
BAZ1B BCL7B CLIP2 DNAJC30 EIF4H ELN
FKBP6 GTF2I GTF2IRD1 LAT2 LIMK1 MLXIPL
RFC2 TBL2 WBSCR16 WBSCR22 WBSCR27
Primary pigmented nodular adrenocortical disease
PDE11A PDE8B PRKAR1A



Williams syndrome
Primary pigmented nodular adrenocortical disease

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

Synonym(s):
- PPNAD

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 endocrine disease
- Rare genetic disease
- Rare infertility

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Chronic arterial hypertension
- Diabetes mellitus
- Late puberty / hypogonadism / hypogenitalism
- Myopathy
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Short stature / dwarfism / nanism


Williams syndrome
Primary pigmented nodular adrenocortical disease

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
- 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
- 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 / 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
- Malabsorption / chronic diarrhea / steatorrhea
- Megalocornea
- Micropenis / small penis / agenesis
- Multiple caries
- Myopia
- 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


Very frequent
- Adrenal glands anomalies
- Cortico-adrenal hyperplasia / hypersecretion

Frequent
- Asthenia / fatigue / weakness
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Mutiple fractures / bone fragility
- Striae
- Thin skin
- Truncal obesity