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1 OMIM reference -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
4 OMIM references -
2 associated genes
6 signs/symptoms
Papilloma of choroid plexus
Moyamoya disease

TP53 ACTA2
RNF213


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TP53
(0.63)
ACTA2



Citations in the biomedical literature:


Papilloma of choroid plexus
TP53
Moyamoya disease
ACTA2 RNF213



Papilloma of choroid plexus
Moyamoya disease

Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D020288
External references:
4 OMIM references -
2 MeSH references: C536991 / D009072


COMMON
SIGNS
- Autosomal recessive inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus


Papilloma of choroid plexus
Moyamoya disease

Very frequent
- 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
- Mild visual loss / impaired visual acuity
- Neoplasms / tumors


Very frequent
- Vascular anomalies of skin / mucosae

Frequent
- Cerebral vascular anomalies
- Dilated cerebral ventricles without hydrocephaly