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1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
No signs/symptoms info
Lafora disease
Glycogen storage disease due to muscle and heart glycogen synthase deficiency

EPM2A GYS1
NHLRC1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NHLRC1
EPM2A
(0.63)
(0.52)
GYS1
GYS1



Citations in the biomedical literature:


Lafora disease
EPM2A NHLRC1
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GYS1



Lafora disease
Glycogen storage disease due to muscle and heart glycogen synthase deficiency

Synonym(s):
- Progressive myoclonic epilepsy type 2

Synonym(s):
- GSD due to muscle and heart glycogen synthase deficiency
- GSD type 0b
- Glycogen storage disease type 0b
- Glycogenosis due to muscle and heart glycogen synthase deficiency
- Glycogenosis type 0b

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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: <1 / 1 000 000
Average age onset: childhood
Average age of death: child / adolescent
Type of inheritance: sporadic

External references:
1 OMIM reference -
1 MeSH reference: D020192
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.