Details of Disease

General Information of Disease (ID: DISS9RWQ)

Disease Name Hereditary periodic fever syndrome
Synonyms hereditary periodic fever syndrome
Definition An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome.
Disease Hierarchy
DIS9MNYC: Periodic fever syndrome
DIS8I9FS: Hereditary disorder of connective tissue
DISS9RWQ: Hereditary periodic fever syndrome
Disease Identifiers
MONDO ID
MONDO_0017953
MESH ID
D056660
UMLS CUI
C0751422
MedGen ID
199651
Orphanet ID
324924
SNOMED CT ID
402790006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
NLRP3 TT4EN8X Strong Genetic Variation [1]
TNFRSF1A TTG043C Strong Biomarker [2]
TNFAIP3 TT5W0IO Definitive Biomarker [3]
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This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LPIN2 OTRRTMXX Strong Biomarker [4]
MEFV OTRJ6S6K Strong Genetic Variation [5]
NLRC4 OTAIA3NA Strong Biomarker [6]
NLRP12 OTGR132Z Strong Genetic Variation [7]
PSTPIP1 OT4PGEAB Strong Biomarker [8]
CARD8 OTXXZYWU Definitive Genetic Variation [1]
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⏷ Show the Full List of 6 DOT(s)

References

1 NALP3 inflammasome functional polymorphisms and gout susceptibility.Cell Cycle. 2009 Jan 1;8(1):27-30. doi: 10.4161/cc.8.1.7325. Epub 2009 Jan 31.
2 Brief Report: Involvement of TNFRSF11A molecular defects in autoinflammatory disorders.Arthritis Rheumatol. 2014 Sep;66(9):2621-7. doi: 10.1002/art.38727.
3 Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. Nat Genet. 2016 Jan;48(1):67-73. doi: 10.1038/ng.3459. Epub 2015 Dec 7.
4 A splice site mutation confirms the role of LPIN2 in Majeed syndrome.Arthritis Rheum. 2007 Mar;56(3):960-4. doi: 10.1002/art.22431.
5 Pyrin Inflammasome Regulates Tight Junction Integrity toRestrict Colitis and Tumorigenesis.Gastroenterology. 2018 Mar;154(4):948-964.e8. doi: 10.1053/j.gastro.2017.11.276. Epub 2017 Dec 2.
6 Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nat Genet. 2014 Oct;46(10):1135-1139. doi: 10.1038/ng.3066. Epub 2014 Sep 14.
7 A clinical update on inflammasomopathies.Int Immunol. 2017 Nov 1;29(9):393-400. doi: 10.1093/intimm/dxx020.
8 Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis.Arthritis Rheum. 2008 Jul;58(7):2142-6. doi: 10.1002/art.23604.