Details of Disease | DrugMAP

General Information of Disease (ID: DISZL6QU)

Disease Name	X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Synonyms	immunodeficiency 34, Mycobacteriosis, X-linked; IMD34; immunodeficiency 34; atypical Mycobacteriosis, familial, X-linked 2; immunodeficiency type 34; X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in CYBB; immunodeficiency 34, mycobacteriosis, X-linked, X-linked recessive; CYBB X-linked mendelian susceptibility to mycobacterial diseases; X-linked MSMD due to CYBB deficiency
Definition	Any X-linked Mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene.
Disease Hierarchy	DISJ2TZZ: X-linked Mendelian susceptibility to mycobacterial diseases DISZL6QU: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Disease Identifiers	MONDO ID MONDO_0010389 MESH ID C567068 UMLS CUI C1970859 OMIM ID 300645 MedGen ID 370369 Orphanet ID 319623

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CYBB	TT5T8MR	Supportive	X-linked	[1]
CYBB	TT5T8MR	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CYBB	OTGSG868	Supportive	X-linked	[1]
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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.
2	Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.Nat Immunol. 2011 Mar;12(3):213-21. doi: 10.1038/ni.1992. Epub 2011 Jan 30.