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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
2 associated genes
13 signs/symptoms
Situs ambiguus
Brachydactyly type A1

ACVR2B GDF5
CCDC11 IHH
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

Brachydactyly type A1
GDF5 IHH



Situs ambiguus
Brachydactyly type A1

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

Synonym(s):
- Brachydactyly, Farabee 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:
3 OMIM references -
1 MeSH reference: C537088

Brachydactyly type A1

Very frequent
- Autosomal dominant inheritance
- Short big toe
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Thumb hypoplasia / aplasia / absence

Frequent
- Cone epiphyses / epiphysis

Occasional
- Clinodactyly of fifth finger
- Metacarpal anomalies / Archibald's sign
- Scoliosis
- Symphalangy of fingers
- Talipes-varus / metatarsal varus
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray


Situs ambiguus

(no data available)