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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
24 signs/symptoms
Situs ambiguus
20p12.3 microdeletion syndrome

ACVR2B BMP2
CCDC11
CFC1
LEFTY2
NODAL
ZIC3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACVR2B
(0.52)
BMP2



Citations in the biomedical literature:


Situs ambiguus
ACVR2B CCDC11 CFC1 LEFTY2 NODAL ZIC3

20p12.3 microdeletion syndrome
BMP2



Situs ambiguus
20p12.3 microdeletion syndrome

Synonym(s):
- Incomplete situs inversus
- Partial situs inversus
- Situs ambiguous

Synonym(s):
- Del(20)(p12.3)
- Monosomy 20p12.3

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare surgical cardiac disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic

External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references

20p12.3 microdeletion syndrome

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
- Short stature / dwarfism / nanism

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


Situs ambiguus

(no data available)