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1 OMIM reference -
1 associated gene
10 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
3 OMIM references -
2 associated genes
16 signs/symptoms
Papilloma of choroid plexus
Li-Fraumeni syndrome

TP53 CHEK2
TP53


COMMON
GENES
TP53


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TP53
(0.87)
CHEK2



Citations in the biomedical literature:


Papilloma of choroid plexus
TP53
Li-Fraumeni syndrome
CHEK2



Papilloma of choroid plexus
Li-Fraumeni syndrome

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

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Neoplasms -

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

External references:
1 OMIM reference -
1 MeSH reference: D020288
External references:
3 OMIM references -
1 MeSH reference: D016864


COMMON
SIGNS
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Neoplasms / tumors


Papilloma of choroid plexus
Li-Fraumeni syndrome

Very frequent
- Autosomal recessive inheritance
- 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
- Seizures / epilepsy / absences / spasms / status epilepticus


Very frequent
- Acute leukemia
- Autosomal dominant inheritance
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Breast neoplasm / tumor / carcinoma / cancer
- Colon neoplasm / tumor / carcinoma / cancer
- Cortical adrenal neoplasm / tumor / carcinoma / cancer
- Lymphoma
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Sarcoma
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma

Occasional
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Melanoma
- Oropharyngeal neoplasm / tumor / carcinoma / cancer