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.