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Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
1 OMIM reference -
1 associated gene
10 connected diseases
No signs/symptoms info
Disease Type of connection
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
LIG4 syndrome
Omenn syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
(no synonyms)

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

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
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
DGUOK Q16854601465
No signs/symptoms info available.