Details of Disease

General Information of Disease (ID: DISH4NG8)

• Disease Name: Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
• Synonyms: autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1; 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; autosomal recessive MSMD due to partial IFNgammaR1 deficiency; IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
• Definition: A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).
• Disease Hierarchy:
  DISIYKJL: Hereditary predisposition to infections
  DISH4NG8: Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0017901
  UMLS CUI: C4511091
  MedGen ID: 1379275
  Orphanet ID: 319569
  SNOMED CT ID: 725431001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IFNGR1	OTCTQBWW	Supportive	Autosomal recessive	[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.