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PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Papilloma of choroid plexus

RRM2B TP53


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
RRM2B
(0.87)
TP53



Citations in the biomedical literature:


Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
RRM2B
Papilloma of choroid plexus
TP53



Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Papilloma of choroid plexus

Synonym(s):
- Adult-onset CPEO with mitochondrial myopathy

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D020288

Papilloma of choroid plexus

Very frequent
- Autosomal recessive inheritance
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Hydrocephaly
- Structural anomalies of the nervous system

Occasional
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mild visual loss / impaired visual acuity
- Neoplasms / tumors
- Seizures / epilepsy / absences / spasms / status epilepticus


Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

(no data available)