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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Hyperinsulinism due to HNF4A deficiency

EP300 HNF4A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
EP300
(0.49)
HNF4A



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EP300
Hyperinsulinism due to HNF4A deficiency
HNF4A



Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Hyperinsulinism due to HNF4A deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- Hyperinsulinemic hypoglycemia due to HNF4A deficiency

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 endocrine disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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:
No OMIM references
No MeSH references

No signs/symptoms info available.