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Lafora disease
1 OMIM reference -
2 associated genes
6 connected diseases
No signs/symptoms info
Disease Type of connection
Cerebellar ataxia - hypogonadism
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Fatal infantile encephalopathy-pulmonary hypertension syndrome
Fatal multiple mitochondrial dysfunction syndrome
Glycogen storage disease due to glycogen debranching enzyme deficiency
Early-onset Lafora body disease
Synonym(s):
- Progressive myoclonic epilepsy type 2
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D020192
Gene symbol UniProt reference OMIM reference
EPM2A O95278607566
NHLRC1 Q6VVB1608072
No signs/symptoms info available.