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



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

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

Synonym(s):
- HCHWA, Dutch type
- HCHWA-D

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:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
2 MeSH references: C537944 / D028243

Hereditary cerebral hemorrhage with amyloidosis, Dutch type

Very frequent
- Facial pain / cephalalgia / migraine
- Intracranial / cerebral / meningeal hemorrhage
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline

Frequent
- Intracranial / cerebral calcifications
- Seizures / epilepsy / absences / spasms / status epilepticus
- Transient cerebral ischemia / stroke

Occasional
- Early death / lethality


Glycogen storage disease due to GLUT2 deficiency

(no data available)