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Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
1 associated gene
22 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Chronic mucocutaneous candidiasis
Idiopathic aplastic anemia
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Budd-Chiari syndrome
Essential thrombocythemia
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Behçet disease
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Pediatric systemic lupus erythematosus
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Juvenile myelomonocytic leukemia
LEOPARD syndrome
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Metachondromatosis
Noonan syndrome
Synonym(s):
- Autosomal dominant MSMD due to partial IFNgammaR1 deficiency
- Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency
- Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
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 -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
IFNGR1 P15260107470
No signs/symptoms info available.