Details of Disease | DrugMAP

General Information of Disease (ID: DIS9MNYC)

Disease Name	Periodic fever syndrome
Definition	Fevers of unknown etiology recurring over months or years.
Disease Hierarchy	DISCMCGL: Autoinflammatory syndrome DIS9MNYC: Periodic fever syndrome
Disease Identifiers	MONDO ID MONDO_0015137 UMLS CUI C3889979 MedGen ID 855463 Orphanet ID 101995

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
MVK	TT5DFHW	Limited	Biomarker	[1]
TNFRSF1A	TTG043C	Limited	Genetic Variation	[1]
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This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CAPS	OTC9GZ2M	Limited	Biomarker	[2]
GSDMD	OTH39BKI	Limited	Biomarker	[3]
MEFV	OTRJ6S6K	Limited	Biomarker	[4]
SPAG7	OTSDFA2D	Limited	Genetic Variation	[5]
NLRP12	OTGR132Z	Strong	Biomarker	[6]
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References

1	Molecular genetic evaluation of NLRP3, MVK and TNFRSF1A associated periodic fever syndromes.Int J Immunogenet. 2019 Aug;46(4):232-240. doi: 10.1111/iji.12431. Epub 2019 May 28.
2	Guidelines for the management and treatment of periodic fever syndromes: Cryopyrin-associated periodic syndromes (cryopyrinopathies - CAPS).Rev Bras Reumatol Engl Ed. 2016 Jan-Feb;56(1):44-51. doi: 10.1016/j.rbre.2015.08.020. Epub 2015 Oct 20.
3	IRF2 transcriptionally induces GSDMD expression for pyroptosis.Sci Signal. 2019 May 21;12(582):eaax4917. doi: 10.1126/scisignal.aax4917.
4	Comorbidities in familial Mediterranean fever: analysis of 2000 genetically confirmed patients.Rheumatology (Oxford). 2020 Jun 1;59(6):1372-1380. doi: 10.1093/rheumatology/kez410.
5	SPAG7 is a candidate gene for the periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome.Genes Immun. 2014 Apr-May;15(3):190-4. doi: 10.1038/gene.2013.73. Epub 2014 Jan 23.
6	NLRP12 autoinflammatory disease: a Chinese case series and literature review.Clin Rheumatol. 2017 Jul;36(7):1661-1667. doi: 10.1007/s10067-016-3410-y. Epub 2016 Sep 16.