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Glycogen storage disease due to muscle beta-enolase deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal dominant centronuclear myopathy
2 OMIM references -
4 associated genes
No signs/symptoms info
Glycogen storage disease due to muscle beta-enolase deficiency
Autosomal dominant centronuclear myopathy

ENO3
(UniProt - OMIM)
 DNM2
(UniProt - OMIM)
MTMR14
(UniProt - OMIM)
MYF6
(UniProt - OMIM)
RYR1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ENO3
(0.63)
MTMR14


Citations in the biomedical literature:


Glycogen storage disease due to muscle beta-enolase deficiency
ENO3
Autosomal dominant centronuclear myopathy
DNM2 MTMR14 MYF6 RYR1



Glycogen storage disease due to muscle beta-enolase deficiency
Autosomal dominant centronuclear myopathy

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):
- AD-CNM
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- 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: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
No MeSH references
No signs/symptoms info available.