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Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Chuvash erythrocytosis
1 OMIM reference -
1 associated gene
No signs/symptoms info
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Chuvash erythrocytosis

SLC2A1
(UniProt - OMIM)
 VHL
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SLC2A1
(0.68)
VHL


Citations in the biomedical literature:


Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
SLC2A1
Chuvash erythrocytosis
VHL



Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Chuvash erythrocytosis

Synonym(s):
- DYT9
- Episodic choreoathetosis/spasticity
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:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.