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Alpers syndrome
1 OMIM reference -
1 associated gene
8 connected diseases
10 signs/symptoms
Disease Type of connection
Autosomal dominant progressive external ophthalmoplegia
Autosomal recessive progressive external ophthalmoplegia
Mitochondrial neurogastrointestinal encephalomyopathy
Recessive mitochondrial ataxia syndrome
Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Spinocerebellar ataxia with epilepsy
Burkitt lymphoma
Precursor T-cell acute lymphoblastic leukemia
Synonym(s):
- Alpers progressive sclerosing poliodystrophy
- Alpers-Huttenlocher syndrome
- Progressive neuronal degeneration of childhood with liver disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D002549
Gene symbol UniProt reference OMIM reference
POLG P54098174763
Frequent
- Anomalies of eyes and vision
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Movement disorder
- Seizures / epilepsy / absences / spasms / status epilepticus