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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
No signs/symptoms info
Glycogen storage disease due to muscle beta-enolase deficiency
Paroxysmal non-kinesigenic dyskinesia

ENO3 PNKD
PRRT2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ENO3
(0.65)
PNKD



Citations in the biomedical literature:


Glycogen storage disease due to muscle beta-enolase deficiency
ENO3
Paroxysmal non-kinesigenic dyskinesia
PNKD PRRT2



Glycogen storage disease due to muscle beta-enolase deficiency
Paroxysmal non-kinesigenic dyskinesia

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):
- Paroxystic non-kinesigenic choreoathetosis

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: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C537181

No signs/symptoms info available.