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3 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Idiopathic aplastic anemia
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial 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
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
IFNGR1



Idiopathic aplastic anemia
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

Synonym(s):
- Bone marrow failure

Synonym(s):
- Autosomal recessive MSMD due to partial IFNgammaR1 deficiency
- Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency
- Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial 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: <1 / 1 000 000
Average age onset: -
Average age of death: normal
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.