Cytoscape Web
Click node...


13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
25 signs/symptoms
Autosomal dominant nonsyndromic intellectual deficit
Neurofibromatosis type 2

CACNG2 NF2
CDH15
CTNNB1
DOCK8
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.59)
NF2



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Neurofibromatosis type 2
NF2



Autosomal dominant nonsyndromic intellectual deficit
Neurofibromatosis type 2

Synonym(s):
(no synonyms)

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

Classification (Orphanet):
- 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):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
13 OMIM references -
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


Autosomal dominant nonsyndromic intellectual deficit

(no data available)