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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Congenital dyserythropoietic anemia type IV

CREBBP KLF1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CREBBP
(0.8)
KLF1



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
CREBBP
Congenital dyserythropoietic anemia type IV
KLF1



Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Congenital dyserythropoietic anemia type IV

Synonym(s):
(no synonyms)

Synonym(s):
- CDA IV
- CDA due to KLF1 mutation
- CDA type 4
- CDA type IV
- CDAN4
- Congenital dyserythropoietic anemia due to KLF1 mutation
- Congenital dyserythropoietic anemia type 4

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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.