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1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Fibrosarcoma
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

ETV6 IRF8
NTRK3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ETV6
(0.72)
IRF8



Citations in the biomedical literature:


Fibrosarcoma
ETV6 NTRK3
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
IRF8



Fibrosarcoma
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- MSMD due to partial IRF8 deficiency
- MSMD due to partial interferon regulatory factor 8 deficiency
- Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency

Classification (Orphanet):
- Rare bone disease
- Rare oncologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D005354
External references:
1 OMIM reference -
No MeSH references

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

Very frequent
- Autosomal dominant inheritance
- Fever / chilling
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Lymphadenopathy / polyadenopathies



Fibrosarcoma

(no data available)