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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
Progressive supranuclear palsy - parkinsonism
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

MAPT EP300


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MAPT
(0.52)
EP300



Citations in the biomedical literature:


Progressive supranuclear palsy - parkinsonism
MAPT
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EP300



Progressive supranuclear palsy - parkinsonism
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Synonym(s):
- PSP-p
- PSP-parkinsonism

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic 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):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: sporadic
Epidemiological data:
(no data available)

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

No signs/symptoms info available.