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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
No signs/symptoms info
Autosomal dominant secondary polycythemia
Neurofibromatosis type 3

EGLN1 LZTR1
EPAS1 NF2
SMARCB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
EPAS1
(0.63)
SMARCB1



Citations in the biomedical literature:


Autosomal dominant secondary polycythemia
EGLN1 EPAS1
Neurofibromatosis type 3
LZTR1 NF2 SMARCB1



Autosomal dominant secondary polycythemia
Neurofibromatosis type 3

Synonym(s):
- Autosomal dominant secondary erythrocytosis

Synonym(s):
- NF3
- Neurilemmomatosis
- Schwannomatosis

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare skin disease

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

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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: C536641

No signs/symptoms info available.