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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
3 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Galactokinase deficiency

APP GALK1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
GALK1



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Galactokinase deficiency
GALK1



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Galactokinase deficiency

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- GALK deficiency
- GALK-D
- Galactokinase deficiency galactosemia
- Galactosemia type 2

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

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

Epidemiological data:
(no data available)
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
External references:
1 OMIM reference -
1 MeSH reference: C535999

Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Galactokinase deficiency

Very frequent
- Autosomal dominant inheritance
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline



Very frequent
- Autosomal recessive inheritance
- Cataract / lens opacification
- Metabolic anomalies