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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
3 associated genes
6 signs/symptoms
Situs ambiguus
Brachydactyly type A2

ACVR2B BMP2
CCDC11 BMPR1B
CFC1 GDF5
LEFTY2
NODAL
ZIC3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACVR2B
ACVR2B
(0.73)
(0.52)
GDF5
BMP2



Citations in the biomedical literature:


Situs ambiguus
ACVR2B CCDC11 CFC1 LEFTY2 NODAL ZIC3

Brachydactyly type A2
BMP2 BMPR1B GDF5



Situs ambiguus
Brachydactyly type A2

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

Synonym(s):
- Brachydactyly, Mohr-Wriedt 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537089

Brachydactyly type A2

Very frequent
- Autosomal dominant inheritance
- Short hand / brachydactyly

Frequent
- Clinodactyly of fifth finger
- Short foot / brachydactyly of toes

Occasional
- Metacarpal anomalies / Archibald's sign
- Terminal / third phalangeal bone of fingers hypoplasia


Situs ambiguus

(no data available)