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1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
9 signs/symptoms
Lafora disease
Glycogen storage disease due to glycogen debranching enzyme deficiency

EPM2A AGL
NHLRC1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NHLRC1
(0.72)
AGL



Citations in the biomedical literature:


Lafora disease
EPM2A NHLRC1
Glycogen storage disease due to glycogen debranching enzyme deficiency
AGL



Lafora disease
Glycogen storage disease due to glycogen debranching enzyme deficiency

Synonym(s):
- Progressive myoclonic epilepsy type 2

Synonym(s):
- Amylo-1,6-glucosidase deficiency
- Cori disease
- Cori-Forbes disease
- Forbes disease
- GDE deficiency
- GSD due to glycogen debranching enzyme deficiency
- GSD type 3
- GSDIII
- Glycogen storage disease type 3
- Glycogenosis due to glycogen debranching enzyme deficiency
- Glycogenosis type 3
- Limit dextrinosis

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare genetic disease
- Rare neurologic 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: unknown
Average age onset: childhood
Average age of death: any age
Type of inheritance: autosomal recessive

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

Glycogen storage disease due to glycogen debranching enzyme deficiency

Very frequent
- Autosomal recessive inheritance
- Broad cheeks / cherub-like / cherubin face
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Hypoglycemia
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short stature / dwarfism / nanism
- Storage liver disease

Frequent
- Myopathy



Lafora disease

(no data available)