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

DGUOK APP


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
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
APP



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

Synonym(s):
(no synonyms)

Synonym(s):
- HCHWA, Piedmont type

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

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


Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

(no data available)