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Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
1 OMIM reference -
1 associated gene
9 connected diseases
No signs/symptoms info
Disease Type of connection
Childhood absence epilepsy
Encephalopathy due to GLUT1 deficiency
Epilepsy with myoclonic-astatic seizures
Hereditary cryohydrocytosis with reduced stomatin
Paroxysmal exertion-induced dyskinesia
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Chuvash erythrocytosis
Von Hippel-Lindau disease
Synonym(s):
- DYT9
- Episodic choreoathetosis/spasticity
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SLC2A1 P11166138140
No signs/symptoms info available.