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Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
1 associated gene
7 connected diseases
No signs/symptoms info
Disease Type of connection
Primary biliary cirrhosis
Behçet disease
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Takayasu arteritis
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Pediatric systemic lupus erythematosus
Synonym(s):
- MSMD due to complete IL12RB1 deficiency
- MSMD due to complete interleukin 12 receptor beta 1 deficiency
- Mendelian susceptibility to interleukin 12 receptor beta 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: unknown
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
IL12RB1 P42701601604
No signs/symptoms info available.