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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Glycogen storage disease due to muscle beta-enolase deficiency
Early-onset myopathy with fatal cardiomyopathy

ENO3 TTN


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ENO3
(0.63)
TTN



Citations in the biomedical literature:


Glycogen storage disease due to muscle beta-enolase deficiency
ENO3
Early-onset myopathy with fatal cardiomyopathy
TTN



Glycogen storage disease due to muscle beta-enolase deficiency
Early-onset myopathy with fatal cardiomyopathy

Synonym(s):
- GSD due to muscle beta-enolase deficiency
- GSDXIII
- Glycogenosis due to muscle beta-enolase deficiency
- Glycogenosis type 13
- Muscle enolase deficiency
- Muscular enolase deficiency

Synonym(s):
(no synonyms)

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

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
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.