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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

APP DGUOK


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
DGUOK



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
(no synonyms)

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

Classification (ICD10):
(no data available)
Classification (ICD10):
(no data available)

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

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

Hereditary cerebral hemorrhage with amyloidosis, Arctic type

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



Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

(no data available)