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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
25 signs/symptoms
Isolated focal cortical dysplasia type IIb
Neurofibromatosis type 2

TSC1 NF2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TSC1
(0.52)
NF2



Citations in the biomedical literature:


Isolated focal cortical dysplasia type IIb
TSC1
Neurofibromatosis type 2
NF2



Isolated focal cortical dysplasia type IIb
Neurofibromatosis type 2

Synonym(s):
- FCD type IIb

Synonym(s):
- Familial acoustic neurinoma
- Familial acoustic neuroma
- Familial vestibular schwannoma
- NF2

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

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
2 MeSH references: D009464 / D016518

Neurofibromatosis type 2

Very frequent
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal dominant inheritance
- Dizziness
- Sensorineural deafness / hearing loss
- Tinnitus

Frequent
- Cataract / lens opacification
- Facial pain / cephalalgia / migraine
- Skin tumors / lumps / epidermal cysts

Occasional
- Abnormal gait
- Alexia / agraphia / writing / reading troubles
- Benign tumor of the brain / nervous system
- Cafe-au-lait spot
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Corneal clouding / opacity / vascularisation
- Cranial hypertension
- Cranial nerves palsy
- Cutaneous neurofibromas / facial angiofibromas / Koenen tumors
- Facial palsy
- Follicular / erythematous / edematous papules / milium
- Glial tumor / glioblastoma
- Meningioma
- Mild visual loss / impaired visual acuity
- Retinal vascular anomalies / retinal telangiectasia
- Sensitive trouble / deficit
- Subcutaneous nodules / lipomas / tumefaction / swelling


Isolated focal cortical dysplasia type IIb

(no data available)