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3 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
13 signs/symptoms
Neurofibromatosis type 3
Intellectual deficit, X-linked - psychosis - macroorchidism

LZTR1 MECP2
NF2
SMARCB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SMARCB1
(0.92)
MECP2



Citations in the biomedical literature:


Neurofibromatosis type 3
LZTR1 NF2 SMARCB1
Intellectual deficit, X-linked - psychosis - macroorchidism
MECP2



Neurofibromatosis type 3
Intellectual deficit, X-linked - psychosis - macroorchidism

Synonym(s):
- NF3
- Neurilemmomatosis
- Schwannomatosis

Synonym(s):
- Lindsay-Burn syndrome
- PPM-X

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Mental and behavioural disorders -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked dominant

External references:
3 OMIM references -
1 MeSH reference: C536641
External references:
1 OMIM reference -
No MeSH references

Intellectual deficit, X-linked - psychosis - macroorchidism

Very frequent
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macroorchidism / macrotestes
- Movement disorder
- Psychic / behavioural troubles
- X-linked recessive inheritance

Frequent
- Abnormal gait
- EEG anomalies
- Long / large ear
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Psychic / psychomotor regression / dementia / intellectual decline
- Scoliosis
- Structural anomalies of the cardio-circulatory system


Neurofibromatosis type 3

(no data available)