General Information of Disease (ID: DISCRNV1)

Disease Name Autosomal dominant familial periodic fever
Synonyms
FPF; periodic FEVER, familial, autosomal dominant; TNF receptor-associated periodic fever syndrome; TRAPS; tumor necrosis factor receptor-associated periodic syndrome; Tumor Necrosis Factor Receptor-Associated Periodic Syndrome; tumour necrosis factor receptor-associated periodic syndrome; tumor necrosis factor receptor 1 associated periodic syndrome; tumor necrosis factor receptor 1-associated periodic syndrome; TRAPS syndrome; familial Hibernian fever; Hibernian fever, familial; TNF receptor 1-associated periodic syndrome; tumour necrosis factor receptor 1-associated periodic syndrome; TNF receptor-associated periodic syndrome; FHF; tumour necrosis factor receptor 1 associated periodic syndrome
Definition
Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis.
Disease Hierarchy
DISAEGPH: Immune system disorder
DISS9RWQ: Hereditary periodic fever syndrome
DISCRNV1: Autosomal dominant familial periodic fever
Disease Identifiers
MONDO ID
MONDO_0007727
MESH ID
C536657
UMLS CUI
C1275126
OMIM ID
142680
MedGen ID
226899
Orphanet ID
32960
SNOMED CT ID
403833009

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 1 Approved Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Canakinumab DM8HLO5 Approved Antibody [1]
------------------------------------------------------------------------------------

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CGB3 TTUH273 Strong Biomarker [2]
MVK TT5DFHW Strong Genetic Variation [3]
TNFRSF1A TTG043C Strong Genetic Variation [3]
TNFRSF1A TTG043C Definitive Autosomal dominant [4]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
GPT DER5HFI Strong Altered Expression [5]
------------------------------------------------------------------------------------
This Disease Is Related to 9 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MEFV OTRJ6S6K Limited Genetic Variation [6]
APOA5 OTEVKLVA Strong Biomarker [7]
CAPS OTC9GZ2M Strong Biomarker [8]
DNLZ OT48CG1W Strong Genetic Variation [9]
DOCK11 OTFSTN6A Strong Genetic Variation [10]
HFM1 OTHV3EFE Strong Genetic Variation [11]
NCKIPSD OT24UORN Strong Genetic Variation [12]
NLRP12 OTGR132Z Strong Biomarker [13]
TNFRSF1A OT2D9DOV Definitive Autosomal dominant [4]
------------------------------------------------------------------------------------
⏷ Show the Full List of 9 DOT(s)

References

1 Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes. N Engl J Med. 2018 May 17;378(20):1908-1919.
2 Hepatitis E virus infection and fulminant hepatic failure during pregnancy.J Gastroenterol Hepatol. 2007 May;22(5):676-82. doi: 10.1111/j.1440-1746.2007.04913.x.
3 Analysis of NLRP3, MVK and TNFRSF1A variants in adult Greek patients with autoinflammatory symptoms.Clin Exp Rheumatol. 2018 Nov-Dec;36(6 Suppl 115):86-89. Epub 2018 Nov 9.
4 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
5 Tectorigenin protects against experimental fulminant hepatic failure by regulating the TLR4/mitogen-activated protein kinase and TLR4/nuclear factor-B pathways and autophagy.Phytother Res. 2019 Apr;33(4):1055-1064. doi: 10.1002/ptr.6299. Epub 2019 Jan 30.
6 Clinical and genetic profile of children with periodic fever syndromes from a single medical center in South East Michigan.J Clin Immunol. 2014 Jan;34(1):104-13. doi: 10.1007/s10875-013-9960-8.
7 Apolipoprotein A5 alleviates LPS/D-GalN-induced fulminant liver failure in mice by inhibiting TLR4-mediated NF-B pathway.J Transl Med. 2019 May 10;17(1):151. doi: 10.1186/s12967-019-1900-9.
8 Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?.Am J Pharmacogenomics. 2004;4(2):109-18. doi: 10.2165/00129785-200404020-00005.
9 Novel markers of inflammation identified in tumor necrosis factor receptor-associated periodic syndrome (TRAPS) by transcriptomic analysis of effects of TRAPS-associated tumor necrosis factor receptor type I mutations in an endothelial cell line.Arthritis Rheum. 2009 Jan;60(1):269-80. doi: 10.1002/art.24147.
10 Periodic fever (TRAPS) caused by mutations in the TNFalpha receptor 1 (TNFRSF1A) gene of three German patients.Eur J Haematol. 2001 Aug;67(2):105-9.
11 Analysis of helicase domain mutations in the hepatitis E virus derived from patients with fulminant hepatic failure: effects on enzymatic activities and virus replication.Virus Res. 2014 May 12;184:103-10. doi: 10.1016/j.virusres.2014.02.018. Epub 2014 Mar 11.
12 Hepatitis E virus from India exhibits significant amino acid mutations in fulminant hepatic failure patients.Virus Genes. 2013 Feb;46(1):47-53. doi: 10.1007/s11262-012-0833-7. Epub 2012 Oct 10.
13 Phenotypes and genotypes of Chinese adult patients with systemic autoinflammatory diseases.Semin Arthritis Rheum. 2019 Dec;49(3):446-452. doi: 10.1016/j.semarthrit.2019.05.002. Epub 2019 May 11.