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



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

Synonym(s):
(no synonyms)

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

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:
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


Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

(no data available)