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20p12.3 microdeletion syndrome
1 associated gene
24 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Legg-Calvé-Perthes disease
1 OMIM reference -
1 associated gene
9 signs/symptoms
20p12.3 microdeletion syndrome
Legg-Calvé-Perthes disease

BMP2
(UniProt - OMIM)
 COL2A1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
BMP2
(0.79)
COL2A1


Citations in the biomedical literature:


20p12.3 microdeletion syndrome
BMP2
Legg-Calvé-Perthes disease
COL2A1



20p12.3 microdeletion syndrome
Legg-Calvé-Perthes disease

Synonym(s):
- Del(20)(p12.3)
- Monosomy 20p12.3
Synonym(s):
- Aseptic necrosis of the capital femoral epiphysis
- Osteochondritis of the capital femoral epiphysis
- Osteochondrosis of the capital femoral epiphysis
- Perthes disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Short stature / dwarfism / nanism

20p12.3 microdeletion syndrome
Legg-Calvé-Perthes disease

Very frequent
- Hypertelorism
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability

Frequent
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Epicanthic folds
- Flat cheek bones / malar hypoplasia
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Microstomia / little mouth

Occasional
- Atrial septal defect / interauricular communication
- Broad cheeks / cherub-like / cherubin face
- Broad nasal root
- Broad nose / nasal bridge
- Broad / bifid big toe
- Broad / bifid thumb
- Dilated cerebral ventricles without hydrocephaly
- Helix thickened / sculpted
- Hypotonia
- Long philtrum
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Pectus carinatum
- Seizures / epilepsy / absences / spasms / status epilepticus


Very frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Articular / joint pain / arthralgia
- Cartilage destruction / chondrolysis
- Delayed bone age
- Joint / articular deformation
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Osteonecrosis / bone infarction
- Polygenic / multifactorial inheritance