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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
9 signs/symptoms
Situs ambiguus
Angel-shaped phalango-epiphyseal dysplasia

ACVR2B GDF5
CCDC11
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

Angel-shaped phalango-epiphyseal dysplasia
GDF5



Situs ambiguus
Angel-shaped phalango-epiphyseal dysplasia

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

Synonym(s):
- ASPED

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: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

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

Angel-shaped phalango-epiphyseal dysplasia

Very frequent
- Autosomal dominant inheritance
- Epiphyseal anomaly

Frequent
- Anomalies of teeth and dentition
- Arthritis / synovitis / synovial proliferation
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Short stature / dwarfism / nanism

Occasional
- Delayed bone age
- Hyperextensible joints / articular hyperlaxity


Situs ambiguus

(no data available)