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3 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Neurofibromatosis type 3
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

LZTR1 CREBBP
NF2
SMARCB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SMARCB1
(0.83)
CREBBP



Citations in the biomedical literature:


Neurofibromatosis type 3
LZTR1 NF2 SMARCB1
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
CREBBP



Neurofibromatosis type 3
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

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 bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease

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

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

No signs/symptoms info available.