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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
7 signs/symptoms
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Beta-thalassemia - X-linked thrombocytopenia

CREBBP GATA1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CREBBP
(0.82)
GATA1



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
CREBBP
Beta-thalassemia - X-linked thrombocytopenia
GATA1



Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Beta-thalassemia - X-linked thrombocytopenia

Synonym(s):
(no synonyms)

Synonym(s):
- XLTT

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 genetic disease
- Rare hematologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: x-linked recessive

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

Beta-thalassemia - X-linked thrombocytopenia

Very frequent
- Anaemia
- Hemoglobinosis / hemoglobinopathy
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Platelets function anomaly
- Splenomegaly
- Thrombocytopenia / thrombopenia
- X-linked recessive inheritance



Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

(no data available)