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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
5 signs/symptoms
Glycogen storage disease due to GLUT2 deficiency
Partial pancreatic agenesis

SLC2A2 PDX1
PTF1A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SLC2A2
(0.52)
PDX1



Citations in the biomedical literature:


Glycogen storage disease due to GLUT2 deficiency
SLC2A2
Partial pancreatic agenesis
PDX1 PTF1A



Glycogen storage disease due to GLUT2 deficiency
Partial pancreatic agenesis

Synonym(s):
- Bickel-Fanconi glycogenosis
- Fanconi-Bickel disease
- GSD due to GLUT2 deficiency
- Glycogenosis due to GLUT2 deficiency

Synonym(s):
- Congenital pancreatic agenesis
- Partial agenesis of the pancreas

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
- Rare renal disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

Partial pancreatic agenesis

Very frequent
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Insulin-dependent / type 1 diabetes
- Intrauterine growth retardation
- Maternal diabetes
- Structural anomalies of the pancreas



Glycogen storage disease due to GLUT2 deficiency

(no data available)