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1 OMIM reference -
1 associated gene
10 signs/symptoms
COMMON GENES: 1
3 OMIM references -
3 associated genes
No signs/symptoms info
Alpers syndrome
Mitochondrial neurogastrointestinal encephalomyopathy

POLG POLG
RRM2B
TYMP


COMMON
GENES
POLG



Citations in the biomedical literature:


Alpers syndrome
POLG
Mitochondrial neurogastrointestinal encephalomyopathy
RRM2B TYMP



Alpers syndrome
Mitochondrial neurogastrointestinal encephalomyopathy

Synonym(s):
- Alpers progressive sclerosing poliodystrophy
- Alpers-Huttenlocher syndrome
- Progressive neuronal degeneration of childhood with liver disease

Synonym(s):
- MNGIE

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

Classification (ICD10):
- Diseases of the nervous system -
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
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adolescence / young
Average age of death: adult
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: D002549
External references:
3 OMIM references -
No MeSH references

Alpers syndrome

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



Mitochondrial neurogastrointestinal encephalomyopathy

(no data available)