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3 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
Neurofibromatosis type 3
Papilloma of choroid plexus

LZTR1 TP53
NF2
SMARCB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SMARCB1
(0.88)
TP53



Citations in the biomedical literature:


Neurofibromatosis type 3
LZTR1 NF2 SMARCB1
Papilloma of choroid plexus
TP53



Neurofibromatosis type 3
Papilloma of choroid plexus

Synonym(s):
- NF3
- Neurilemmomatosis
- Schwannomatosis

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -

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

External references:
3 OMIM references -
1 MeSH reference: C536641
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


Neurofibromatosis type 3

(no data available)