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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal dominant secondary polycythemia
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15

EGLN1 MAGEL2
EPAS1 NDN
OCA2
SNRPN


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
EPAS1
(0.68)
NDN



Citations in the biomedical literature:


Autosomal dominant secondary polycythemia
EGLN1 EPAS1
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
MAGEL2 NDN OCA2 SNRPN



Autosomal dominant secondary polycythemia
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15

Synonym(s):
- Autosomal dominant secondary erythrocytosis

Synonym(s):
- UPD(15)mat

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare neurologic 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:
(no data available)

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

No signs/symptoms info available.