Details of Disease | DrugMAP

General Information of Disease (ID: DIS8PN5W)

Disease Name	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Synonyms	immunodeficiency type 42; autosomal recessive MSMD due to complete RORgamma receptor defiency; RORC autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency; autosomal recessive primary immunodeficiency due to RORC mutation; autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in RORC; immunodeficiency 42; IMD42
Definition	Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the RORC gene.
Disease Hierarchy	DIS33M7J: Inherited susceptibility to mycobacterial diseases DIS8PN5W: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Disease Identifiers	MONDO ID MONDO_0014710 UMLS CUI C5567647 OMIM ID 616622 MedGen ID 1799070 Orphanet ID 477857 SNOMED CT ID 1172892009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RORC	TTGV6LY	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RORC	OTUBFRPC	Strong	Autosomal recessive	[1]
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References

1	IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations. Science. 2015 Aug 7;349(6248):606-613. doi: 10.1126/science.aaa4282. Epub 2015 Jul 9.