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Autosomal dominant secondary polycythemia
2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Blepharophimosis-intellectual deficit syndrome, MKB type
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal dominant secondary polycythemia
Blepharophimosis-intellectual deficit syndrome, MKB type

EGLN1
(UniProt - OMIM)
 MED12
(UniProt - OMIM)
EPAS1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
EPAS1
(0.63)
MED12


Citations in the biomedical literature:


Autosomal dominant secondary polycythemia
EGLN1 EPAS1
Blepharophimosis-intellectual deficit syndrome, MKB type
MED12



Autosomal dominant secondary polycythemia
Blepharophimosis-intellectual deficit syndrome, MKB type

Synonym(s):
- Autosomal dominant secondary erythrocytosis
Synonym(s):
- BMRS, MKB type
- BMRS, Maat-Kievit-Brunner type
- Blepharophimosis-intellectual deficit syndrome, Maat-Kievit-Brunner type
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic 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: x-linked recessive
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.