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1 OMIM reference -
17 associated genes
180 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 28
1 OMIM reference -
1 associated gene
66 signs/symptoms
Williams syndrome
Fabry disease

BAZ1B GLA
BCL7B
CLIP2
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)
EIF4H
(0.63)
GLA



Citations in the biomedical literature:


Williams syndrome
BAZ1B BCL7B CLIP2 DNAJC30 EIF4H ELN
FKBP6 GTF2I GTF2IRD1 LAT2 LIMK1 MLXIPL
RFC2 TBL2 WBSCR16 WBSCR22 WBSCR27
Fabry disease
GLA



Williams syndrome
Fabry disease

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

Synonym(s):
- Alpha-galactosidase A deficiency
- Anderson-Fabry disease
- Angiokeratoma corporis diffusum
- Diffuse angiokeratoma
- FD

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):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare renal disease
- Rare skin disease

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: 1-5 / 10 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: x-linked recessive

External references:
1 OMIM reference -
1 MeSH reference: D018980
External references:
1 OMIM reference -
1 MeSH reference: D000795


COMMON
SIGNS
- Acute abdominal pain / colic
- Angor pectoris / myocardial infarction
- Aortic valve atresia / stenosis / narrowing / supra-aortic / supra-valvular stenosis
- Articular / joint pain / arthralgia
- Cardiomyopathy / hypertrophic / dilated
- Cataract / lens opacification
- Chronic arterial hypertension
- Coarse face
- Corneal clouding / opacity / vascularisation
- Endocardium anomalies / fibroelastosis / endocarditis
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Heart / cardiac failure
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Malabsorption / chronic diarrhea / steatorrhea
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Proteinuria
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline
- Renal failure
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism
- Thick lips
- Transient cerebral ischemia / stroke


Williams syndrome
Fabry disease

Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Abnormal gait
- Alexia / agraphia / writing / reading troubles
- Anomalies of the neck
- Ataxia / incoordination / trouble of the equilibrium
- Blepharophimosis / short palpebral fissures
- Broad forehead
- Broad nose / nasal bridge
- 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
- Hyperactivity / attention deficit
- Hyperacusia
- Hypercalcemia
- Hypereflexia
- Hypermetropia
- Insterstitial / subtelomeric microdeletion / deletion
- 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
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Structural anomalies of the cardio-circulatory system
- Structural anomalies of the nervous system
- 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
- 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
- Narrow / sloping shoulders
- Obsessive-compulsive disorder
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- 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

Occasional
- Abnormal dermatoglyphics
- Abnormal vertebral size / shape
- Abnormal / polycystic ovaries
- Agenesis / hypoplasia / aplasia of kidneys
- 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
- Carotid artery anomalies
- Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- 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
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis
- Flat cornea
- Glaucoma
- Hyperextensible joints / articular hyperlaxity
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Hypothyroidy
- Increased nuchal translucency
- Insulin-independent / type 2 diabetes
- Interstitial nephropathy
- Megalocornea
- Micropenis / small penis / agenesis
- Multiple caries
- Myopathy
- Myopia
- Osteosclerosis / osteopetrosis / bone condensation
- Patella dislocation
- Patent ductus arteriosus
- Pectus excavatum
- Polycystic kidneys
- Precocious puberty
- Premature ageing
- 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
- Anaemia
- Arthritis / synovitis / synovial proliferation
- Asthenia / fatigue / weakness
- Conjunctival telangiectasia
- Corneal dystrophy
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Follicular / erythematous / edematous papules / milium
- Hearing loss / hypoacusia / deafness
- Hematuria / microhematuria
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Myalgia / muscular pain
- Nephrotic syndrome
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Telangiectasiae of mucosae
- Telangiectasiae of the skin
- Vascular anomalies of skin / mucosae
- X-linked recessive inheritance

Frequent
- Anorexia
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Emphysema
- Lipidosis / sulfatidosis
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Renal disease / nephropathy
- Renal tubular defect / tubulopathy

Occasional
- Cardiac rhythm disorder / arrhythmia
- Chronic obstructive pulmonary disease / COPD / obstructive respiratory syndrome
- Diabetes insipidus
- Dizziness
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Fever / chilling
- Hyperesthesia / allodynia / hyperalgia
- Lymphedema
- Myocardium anomalies / myocarditis
- Renal glomerular defect / glomerulopathy
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Seizures / epilepsy / absences / spasms / status epilepticus