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1 OMIM reference -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 2
5 OMIM references -
5 associated genes
No signs/symptoms info
Papilloma of choroid plexus
Autosomal dominant progressive external ophthalmoplegia

TP53 C10ORF2
POLG
POLG2
RRM2B
SLC25A4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TP53
TP53
(0.87)
(0.63)
RRM2B
C10ORF2



Citations in the biomedical literature:


Papilloma of choroid plexus
TP53
Autosomal dominant progressive external ophthalmoplegia
C10ORF2 POLG POLG2 RRM2B SLC25A4



Papilloma of choroid plexus
Autosomal dominant progressive external ophthalmoplegia

Synonym(s):
(no synonyms)

Synonym(s):
- adPEO

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

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

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

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


Autosomal dominant progressive external ophthalmoplegia

(no data available)