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3 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Neurofibromatosis type 3
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

LZTR1 STAT1
NF2
SMARCB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LZTR1
(0.63)
STAT1



Citations in the biomedical literature:


Neurofibromatosis type 3
LZTR1 NF2 SMARCB1
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1



Neurofibromatosis type 3
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Synonym(s):
- NF3
- Neurilemmomatosis
- Schwannomatosis

Synonym(s):
- MSMD due to partial STAT1 deficiency
- MSMD due to partial signal transducer and activator of transcription 1 deficiency
- Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency

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 immune disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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: autosomal dominant

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

No signs/symptoms info available.