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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal dominant secondary polycythemia
Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies

EGLN1 ARNT2
EPAS1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
EPAS1
(0.82)
ARNT2



Citations in the biomedical literature:


Autosomal dominant secondary polycythemia
EGLN1 EPAS1
Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
ARNT2



Autosomal dominant secondary polycythemia
Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies

Synonym(s):
- Autosomal dominant secondary erythrocytosis

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare renal 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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.