Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
13 signs/symptoms
Glycogen storage disease due to GLUT2 deficiency
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

SLC2A2 APP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SLC2A2
(0.56)
APP



Citations in the biomedical literature:


Glycogen storage disease due to GLUT2 deficiency
SLC2A2
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
APP



Glycogen storage disease due to GLUT2 deficiency
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

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

Synonym(s):
- HCHWA, Piedmont type

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
- Rare renal disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

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

Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

Very frequent
- Autosomal dominant inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral / meningeal hemorrhage
- Motor deficit / trouble
- Obnubilation / coma / lethargia / desorientation
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Psychic / psychomotor regression / dementia / intellectual decline
- Sensitive trouble / deficit
- Transient cerebral ischemia / stroke

Frequent
- Cerebral vascular anomalies
- Facial pain / cephalalgia / migraine
- Psychic / behavioural troubles

Occasional
- Early death / lethality


Glycogen storage disease due to GLUT2 deficiency

(no data available)