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3 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Idiopathic aplastic anemia
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency

IFNG IFNGR1
PRF1
SBDS
TERC
TERT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IFNG
(0.9)
IFNGR1



Citations in the biomedical literature:


Idiopathic aplastic anemia
IFNG PRF1 SBDS TERC TERT
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
IFNGR1



Idiopathic aplastic anemia
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency

Synonym(s):
- Bone marrow failure

Synonym(s):
- MSMD due to complete IFNgammaR1 deficiency
- MSMD due to complete interferon gamma receptor 1 deficiency
- Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency

Classification (Orphanet):
- Rare hematologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: unknown
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive

External references:
3 OMIM references -
1 MeSH reference: C538494
External references:
No OMIM references
1 MeSH reference: C535530

No signs/symptoms info available.