Cytoscape Web
Click node...


6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
15 signs/symptoms
Situs ambiguus
Proximal symphalangism

ACVR2B GDF5
CCDC11 NOG
CFC1
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

Proximal symphalangism
GDF5 NOG



Situs ambiguus
Proximal symphalangism

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

Synonym(s):
- Symphalangism, Cushing type

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

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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C536223

Proximal symphalangism

Very frequent
- Autosomal dominant inheritance
- Camptodactyly of some fingers
- Carpal bones fusion / synostosis
- Symphalangy of fingers
- Tarsal anomaly / fusion / synostosis

Frequent
- Clinodactyly of fingers 1,2,3,4 / overlapping fingers
- Elbow dislocation
- Humeroradial fusion
- Metacarpal anomalies / Archibald's sign
- Sensorineural deafness / hearing loss
- Short hand / brachydactyly

Occasional
- Clinodactyly of fifth finger
- Strabismus / squint
- Syndactyly of fingers / interdigital palm
- Wrist / carpal anomalies


Situs ambiguus

(no data available)