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Glycogen storage disease due to muscle beta-enolase deficiency
1 OMIM reference -
1 associated gene
42 connected diseases
No signs/symptoms info
Disease Type of connection
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial isolated dilated cardiomyopathy
Leber congenital amaurosis
Senior-Loken syndrome
Paroxysmal non-kinesigenic dyskinesia
Amyotrophic lateral sclerosis
Autosomal dominant centronuclear myopathy
Autosomal recessive centronuclear myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2C
Autosomal recessive limb-girdle muscular dystrophy type 2G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Childhood-onset nemaline myopathy
Distal hereditary motor neuropathy type 7
Early-onset myopathy with fatal cardiomyopathy
Glycogen storage disease due to aldolase A deficiency
Glycogen storage disease due to phosphoglucomutase deficiency
Hereditary proximal myopathy with early respiratory failure
Hereditary spherocytosis
Huntington disease
Idiopathic pulmonary fibrosis
Intermediate nemaline myopathy
Juvenile Huntington disease
Keratosis palmoplantaris striata
Lethal acantholytic epidermolysis bullosa
PGM-CDG
Perry syndrome
Severe congenital nemaline myopathy
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Spondyloepiphyseal dysplasia tarda
Tibial muscular dystrophy
Typical nemaline myopathy
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Hemolytic anemia due to glucophosphate isomerase deficiency
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
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ENO3 P13929131370
No signs/symptoms info available.