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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
5 associated genes
No signs/symptoms info
Glycogen storage disease due to GLUT2 deficiency
Permanent neonatal diabetes mellitus

SLC2A2 ABCC8
GCK
INS
KCNJ11
PDX1


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
Permanent neonatal diabetes mellitus
ABCC8 GCK INS KCNJ11 PDX1



Glycogen storage disease due to GLUT2 deficiency
Permanent neonatal diabetes mellitus

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

Synonym(s):
- PNDM

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
- Rare renal disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Certain conditions originating in the perinatal period -

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: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.