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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
8 signs/symptoms
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Brachydactyly type E

CREBBP HOXD13
PTHLH


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
CREBBP
Brachydactyly type E
HOXD13 PTHLH



Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Brachydactyly type E

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

Brachydactyly type E

Very frequent
- Autosomal dominant inheritance
- Metacarpal anomalies / Archibald's sign

Frequent
- Hyperextensible joints / articular hyperlaxity
- Short stature / dwarfism / nanism
- Terminal / third phalangeal bone of fingers hypoplasia

Occasional
- Frontal bossing / prominent forehead
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Upper limb asymmetry / hemiatrophy / hemihypertrophy


Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

(no data available)