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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
16 OMIM references -
4 associated genes
No signs/symptoms info
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Early-onset autosomal dominant Alzheimer disease

DGUOK APP
PSEN1
PSEN2
SORL1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
DGUOK
Early-onset autosomal dominant Alzheimer disease
APP PSEN1 PSEN2 SORL1



Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Early-onset autosomal dominant Alzheimer disease

Synonym(s):
(no synonyms)

Synonym(s):
- EOFAD
- Early-onset familial autosomal dominant Alzheimer disease
- Familial Alzheimer disease

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.