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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
5 associated genes
No signs/symptoms info
Glycogen storage disease due to muscle beta-enolase deficiency
Hereditary spherocytosis

ENO3 ANK1
EPB42
SLC4A1
SPTA1
SPTB


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Glycogen storage disease due to muscle beta-enolase deficiency
ENO3
Hereditary spherocytosis
ANK1 EPB42 SLC4A1 SPTA1 SPTB



Glycogen storage disease due to muscle beta-enolase deficiency
Hereditary spherocytosis

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):
- Minkowski-Chauffard disease

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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: 1-5 / 10 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
4 OMIM references -
2 MeSH references: C536356 / D013103

No signs/symptoms info available.