Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
7 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Brachydactyly-syndactyly, Zhao type
Rubinstein-Taybi syndrome due to CREBBP mutations

HOXD13 CREBBP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HOXD13
(0.56)
CREBBP



Citations in the biomedical literature:


Brachydactyly-syndactyly, Zhao type
HOXD13
Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP



Brachydactyly-syndactyly, Zhao type
Rubinstein-Taybi syndrome due to CREBBP mutations

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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

Brachydactyly-syndactyly, Zhao type

Very frequent
- Autosomal dominant inheritance
- Metacarpal anomalies / Archibald's sign
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Syndactyly of toes

Frequent
- Hallux valgus
- Symphalangy of fingers



Rubinstein-Taybi syndrome due to CREBBP mutations

(no data available)