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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
10 signs/symptoms
Situs ambiguus
Multiple synostoses syndrome

ACVR2B FGF9
CCDC11 GDF5
CFC1 NOG
LEFTY2
NODAL
ZIC3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACVR2B
(0.73)
GDF5



Citations in the biomedical literature:


Situs ambiguus
ACVR2B CCDC11 CFC1 LEFTY2 NODAL ZIC3

Multiple synostoses syndrome
FGF9 GDF5 NOG



Situs ambiguus
Multiple synostoses syndrome

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

Synonym(s):
- Deafness - symphalangism syndrome, Hermann type
- Facio-audio-symphalangism
- Symphalangism - brachydactyly
- WL syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare surgical cardiac disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic 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: childhood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
3 OMIM references -
No MeSH references

Multiple synostoses syndrome

Very frequent
- Autosomal dominant inheritance
- Conductive deafness / hearing loss
- Restricted joint mobility / joint stiffness / ankylosis
- Short hand / brachydactyly
- Symphalangy of fingers

Frequent
- Broad / bifid thumb
- Cone epiphyses / epiphysis
- Simian crease / transverse / unique palmar crease

Occasional
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Nails anomalies


Situs ambiguus

(no data available)