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Glycogen storage disease due to GLUT2 deficiency
1 OMIM reference -
1 associated gene
10 connected diseases
No signs/symptoms info
Disease Type of connection
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
MODY syndrome
Partial pancreatic agenesis
Permanent neonatal diabetes mellitus
Synonym(s):
- Bickel-Fanconi glycogenosis
- Fanconi-Bickel disease
- GSD due to GLUT2 deficiency
- Glycogenosis due to GLUT2 deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
- Rare renal disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SLC2A2 P11168138160
No signs/symptoms info available.