Details of Disease

General Information of Disease (ID: DISIHLZ8)

• Disease Name: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
• Synonyms: autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency; autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2; autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency; IFNGR2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency; autosomal dominant MSMD due to partial IFNgammaR2 deficiency
• Definition: A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).
• Disease Hierarchy:
  DIS33M7J: Inherited susceptibility to mycobacterial diseases
  DISIHLZ8: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0017903
  UMLS CUI: C4510875
  MedGen ID: 1371829
  Orphanet ID: 319589
  SNOMED CT ID: 725151007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
IFNGR2	TT13TL0	Supportive	Autosomal dominant	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IFNGR2	OTVOPCHW	Supportive	Autosomal dominant	[1]

References

• [1] Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.