Cytoscape Web
Click node...


1 OMIM reference -
17 associated genes
180 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 14
1 OMIM reference -
1 associated gene
25 signs/symptoms
Williams syndrome
Congenital muscular dystrophy due to LMNA mutation

BAZ1B LMNA
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)
BAZ1B
(0.49)
LMNA



Citations in the biomedical literature:


Williams syndrome
BAZ1B BCL7B CLIP2 DNAJC30 EIF4H ELN
FKBP6 GTF2I GTF2IRD1 LAT2 LIMK1 MLXIPL
RFC2 TBL2 WBSCR16 WBSCR22 WBSCR27
Congenital muscular dystrophy due to LMNA mutation
LMNA



Williams syndrome
Congenital muscular dystrophy due to LMNA mutation

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

Synonym(s):
- L-CMD
- LMNA-related congenital muscular dystrophy

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 genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

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: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic

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


COMMON
SIGNS
- Abnormal gait
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Ankle anomalies
- Anomalies of the neck
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Heart / cardiac failure
- Hyperextensible joints / articular hyperlaxity
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Lordosis
- Myopathy
- Psychic / psychomotor regression / dementia / intellectual decline
- Restricted joint mobility / joint stiffness / ankylosis


Williams syndrome
Congenital muscular dystrophy due to LMNA mutation

Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Acute abdominal pain / colic
- Alexia / agraphia / writing / reading troubles
- 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
- Fine / elfin-like face
- High forehead
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- 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
- 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
- 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
- Ectopic / horseshoe / fused kidneys
- Enamel anomaly
- Flat cheek bones / malar hypoplasia
- Flat foot
- Generalized obesity
- Genu valgum
- Hallux valgus
- Hypercalciuria
- Hypertonia / spasticity / rigidity / stiffness
- Inguinal / inguinoscrotal / crural hernia
- Insomnia
- Kyphosis
- Loose skin / skin relaxation / excess skin / creases
- 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
- 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
- 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
- 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
- Myopia
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- 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
- Muscle weakness / flaccidity

Frequent
- Abnormal EMG / electromyogram / electropmyography
- Motor deficit / trouble
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Rigid spine

Occasional
- Cardiac rhythm disorder / arrhythmia
- Death in infancy
- Fetal immobility / abnormal fetal movements
- Narrow rib cage / thorax
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy