Cytoscape Web
Click node...


2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal dominant secondary polycythemia
Aneurysm - osteoarthritis syndrome

EGLN1 SMAD3
EPAS1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
EPAS1
(0.76)
SMAD3



Citations in the biomedical literature:


Autosomal dominant secondary polycythemia
EGLN1 EPAS1
Aneurysm - osteoarthritis syndrome
SMAD3



Autosomal dominant secondary polycythemia
Aneurysm - osteoarthritis syndrome

Synonym(s):
- Autosomal dominant secondary erythrocytosis

Synonym(s):
- AOS
- Loeys-Dietz syndrome with osteoarthritis

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.