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3 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Unverricht-Lundborg disease
Chuvash erythrocytosis

CSTB VHL
PRICKLE1
SCARB2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CSTB
(0.76)
VHL



Citations in the biomedical literature:


Unverricht-Lundborg disease
CSTB PRICKLE1 SCARB2
Chuvash erythrocytosis
VHL



Unverricht-Lundborg disease
Chuvash erythrocytosis

Synonym(s):
- Progressive myoclonic epilepsy type 1
- ULD

Synonym(s):
- Chuvash polycythemia
- Von Hippel-Lindau-dependent polycythemia

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
3 OMIM references -
1 MeSH reference: D020194
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.