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MCID: HRD214
MIFTS: 34

Hereditary Periodic Fever Syndrome

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Hereditary Periodic Fever Syndrome

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MalaCards integrated aliases for Hereditary Periodic Fever Syndrome:

Name: Hereditary Periodic Fever Syndrome 58
Hereditary Periodic Fever Syndromes 54

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Bone diseases Skin diseases Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare systemic and rhumatological diseases


External Ids:

ICD10 via Orphanet 33 E85.0
Orphanet 58 ORPHA324924
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Summaries for Hereditary Periodic Fever Syndrome

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MalaCards based summary : Hereditary Periodic Fever Syndrome, also known as hereditary periodic fever syndromes, is related to familial cold autoinflammatory syndrome 2 and muckle-wells syndrome. An important gene associated with Hereditary Periodic Fever Syndrome is MEFV (MEFV Innate Immuity Regulator, Pyrin), and among its related pathways/superpathways are Toll-like Receptor Signaling Pathway and Measles. The drugs Antibodies, Monoclonal and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include bone, monocytes and skin, and related phenotypes are integument and liver/biliary system

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Related Diseases for Hereditary Periodic Fever Syndrome

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Diseases in the Hereditary Periodic Fever Syndrome family:

Periodic Fever, Familial, Autosomal Dominant

Diseases related to Hereditary Periodic Fever Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 familial cold autoinflammatory syndrome 2 32.5 NLRP3 MEFV
2 muckle-wells syndrome 31.4 TNFRSF1A NLRP3 MEFV
3 familial mediterranean fever 30.9 TNFRSF1A TNF NLRP3 MEFV
4 periodic fever, familial, autosomal dominant 30.8 TNFRSF1A TNF NLRP3 MEFV
5 familial cold autoinflammatory syndrome 30.0 NLRP3 MEFV
6 urticaria 29.5 TNF NLRP3
7 juvenile rheumatoid arthritis 29.5 TNFRSF1A TNF
8 wells syndrome 29.3 TNFRSF1A NLRP3 MEFV
9 mevalonic aciduria 29.3 TNFRSF1A NLRP3 MEFV
10 proteasome-associated autoinflammatory syndrome 1 29.3 TNF NLRP3 MEFV
11 relapsing fever 29.2 TNFRSF1A TNF MEFV
12 adult-onset still's disease 29.2 TNFRSF1A TNF MEFV
13 arthritis 29.2 TNFRSF1A TNF MEFV
14 familial cold autoinflammatory syndrome 1 29.1 TNFRSF1A NLRP3 MEFV
15 vasculitis 29.0 TNF MEFV
16 exanthem 29.0 TNF NLRP3 MEFV
17 cinca syndrome 28.9 TNFRSF1A NLRP3 MEFV
18 amyloidosis 28.8 TNFRSF1A TNF NLRP3 MEFV
19 familial mediterranean fever, autosomal dominant 11.2
20 hyper-igd syndrome 10.3
21 amyloidosis aa 10.1
22 juvenile ankylosing spondylitis 10.0 TNF MEFV
23 cold urticaria 10.0
24 enthesopathy 10.0 TNF MEFV
25 hypersensitivity reaction type iii disease 10.0 TNF MEFV
26 erysipelas 10.0 TNF MEFV
27 myelitis 10.0 TNFRSF1A TNF
28 pericardium disease 10.0 TNF MEFV
29 inflammatory myopathy with abundant macrophages 10.0 TNFRSF1A MEFV
30 intermittent hydrarthrosis 10.0 TNFRSF1A MEFV
31 pleurisy 10.0 TNF MEFV
32 idiopathic recurrent pericarditis 10.0 TNFRSF1A MEFV
33 brucellosis 10.0 TNF MEFV
34 dystrophinopathies 10.0 TNFRSF1A TNF
35 macrophage activation syndrome 10.0 TNFRSF1A TNF
36 post-transplant lymphoproliferative disease 10.0 TNFRSF1A TNF
37 retinitis pigmentosa 55 10.0 TNFRSF1A TNF
38 neurofibromatosis, type ii 10.0 TNF MEFV
39 spondylarthropathy 9.9 TNFRSF1A TNF
40 purpura 9.9 TNF MEFV
41 retinitis pigmentosa 75 9.9 TNFRSF1A TNF
42 paratyphoid fever 9.9 TNFRSF1A TNF
43 typhoid fever 9.9 TNFRSF1A TNF
44 sympathetic ophthalmia 9.9 TNFRSF1A TNF
45 autoimmune disease 9.9
46 rheumatoid arthritis 9.9
47 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
48 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
49 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 9.9
50 autosomal recessive disease 9.9

Graphical network of the top 20 diseases related to Hereditary Periodic Fever Syndrome:



Diseases related to Hereditary Periodic Fever Syndrome
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Symptoms & Phenotypes for Hereditary Periodic Fever Syndrome

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MGI Mouse Phenotypes related to Hereditary Periodic Fever Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.56 MEFV NLRP3 TNF TNFRSF1A
2 liver/biliary system MP:0005370 9.46 MEFV NLRP3 TNF TNFRSF1A
3 reproductive system MP:0005389 9.26 MEFV NLRP3 TNF TNFRSF1A
4 skeleton MP:0005390 8.92 MEFV NLRP3 TNF TNFRSF1A
Sources

Drugs & Therapeutics for Hereditary Periodic Fever Syndrome

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Drugs for Hereditary Periodic Fever Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies, Monoclonal Phase 3
2 Immunologic Factors Phase 3
3 Immunoglobulins Phase 3
4 Antibodies Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A French Open-label Extension Study of Canakinumab in Patients Who Participated in International Phase III Studies CACZ885G2301E1 or CACZ885G2306 in Systemic Juvenile Idiopathic Arthritis and CACZ885N2301 in Hereditary Periodic Fevers (TRAPS, HIDS, or crFMF) Completed NCT02334748 Phase 3 canakinumab
2 Recurrent AA Amyloidosis After Renal Transplantation: Effects on Allograft Survival Completed NCT02704065

Search NIH Clinical Center for Hereditary Periodic Fever Syndrome

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Genetic Tests for Hereditary Periodic Fever Syndrome

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Anatomical Context for Hereditary Periodic Fever Syndrome

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MalaCards organs/tissues related to Hereditary Periodic Fever Syndrome:

40
Bone, Monocytes, Skin, T Cells, Liver, Testes
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Publications for Hereditary Periodic Fever Syndrome

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Articles related to Hereditary Periodic Fever Syndrome:

(show top 50) (show all 110)
# Title Authors PMID Year
1
The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever. 54 61
19877056 2009
2
Autoinflammatory syndromes with a dermatological perspective. 54 61
17727363 2007
3
[Muckle-Wells syndrome: a rare periodic fever syndrome]. 54 61
16901068 2006
4
[Hereditary periodic fever]. 54 61
15243709 2004
5
Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis. 54 61
15071491 2004
6
A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder? 54 61
14679589 2004
7
Familial Mediterranean Fever. 61
30686512 2019
8
A Clinical Study of Effect of Hyperpyrexia on Otoacoustic Emissions in Children. 61
30211105 2018
9
Novel insights into the role of inflammasomes in autoimmune and metabolic rheumatic diseases. 61
29869008 2018
10
A Comprehensive Overview of the Hereditary Periodic Fever Syndromes. 61
27068928 2018
11
Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes. 61
29159471 2018
12
Cardiovascular disease in patients with autoinflammatory syndromes. 61
29094181 2018
13
Tumor necrosis factor-associated periodic syndrome in adults. 61
28942479 2018
14
Musculoskeletal manifestations in hereditary periodic fever syndromes. 61
29742055 2018
15
Updated overview of molecular pathways involved in the most common monogenic autoinflammatory diseases. 61
29742053 2018
16
A clinical update on inflammasomopathies. 61
28387826 2017
17
Autoinflammatory Diseases in Pediatric Dermatology-Part 1: Urticaria-like Syndromes, Pustular Syndromes, and Mucocutaneous Ulceration Syndromes. 61
28442130 2017
18
The diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy. 61
28194697 2017
19
Monogenic Periodic Fever Syndromes: Treatment Options for the Pediatric Patient. 61
28497352 2017
20
Muckle-Wells syndrome in the setting of basal cell nevus syndrome. 61
28686751 2017
21
Severe liver involvement in two patients with long-term history of fever: remember familial Mediterranean fever. 61
27659912 2016
22
Early Onset of Periodic Fever Syndrome in a Patient Carrying Both Tumor Necrosis Factor Receptor Superfamily 1A and Mediterranean Fever Mutations. 61
29900987 2016
23
Adult autoinflammatory disease frequency and our diagnostic experience in an adult autoinflammatory clinic. 61
26620106 2016
24
Protective and detrimental roles of inflammasomes in disease. 61
25895577 2015
25
Advances in the genetically complex autoinflammatory diseases. 61
26077134 2015
26
[Cryopyrine-associated periodic syndrome: CAPS seen from adulthood]. 61
25595876 2015
27
Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation. 61
25766347 2015
28
Fatal sulfasalazine-induced eosinophilic myocarditis in a patient with periodic fever syndrome. 61
25531204 2015
29
Periodic fevers in adult Greeks: clinical and molecular presentation. 61
24708999 2014
30
Defects in mitochondrial clearance predispose human monocytes to interleukin-1β hypersecretion. 61
24356959 2014
31
IL-1 blockade in autoinflammatory syndromes. 61
24422572 2014
32
Evaluation of hearing in patients with familial Mediterranean fever. 61
23306349 2013
33
Functions of NOD-Like Receptors in Human Diseases. 61
24137163 2013
34
Innate immunity functional gene polymorphisms and gout susceptibility. 61
23639963 2013
35
Monogenic autoinflammatory diseases: concept and clinical manifestations. 61
23711932 2013
36
AA amyloidosis complicating the hereditary periodic fever syndromes. 61
23280696 2013
37
Autoinflammatory gene polymorphisms and susceptibility to UK juvenile idiopathic arthritis. 61
23547563 2013
38
Long chain fatty acid (Lcfa) abnormalities in hyper Igd syndrome (Hids) and Familial Mediterranean Fever (Fmf): new insight into heritable periodic fevers. 61
23375471 2013
39
Role of autoimmunity and autoinflammation in the pathogenesis of idiopathic recurrent pericarditis. 61
21170606 2013
40
In vitro analysis of the functional effects of an NLRP3 G809S variant with the co-existence of MEFV haplotype variants in atypical autoinflammatory syndrome. 61
23015306 2013
41
Amyloidosis in a child with hyperimmunoglobulinemia D syndrome. 61
23314147 2013
42
Periodic fevers with aphthous stomatitis, pharyngitis, and adenitis (PFAPA). 61
22878272 2012
43
The diagnostic evaluation of patients with potential adult-onset autoinflammatory disorders: our experience and review of the literature. 61
22878268 2012
44
Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience. 61
22281876 2012
45
[Autoinflammatory syndromes in dermatology]. 61
22545497 2012
46
Inflammasomes: far beyond inflammation. 61
22430784 2012
47
The inflammasome: in memory of Dr. Jurg Tschopp. 61
22075986 2012
48
Mevalonate kinase deficiency: disclosing the role of mevalonate pathway modulation in inflammation. 61
22726114 2012
49
[Autoinflammatory syndromes/fever syndromes]. 61
21541834 2011
50
The Eurofever Project: towards better care for autoinflammatory diseases. 61
21360011 2011
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Variations for Hereditary Periodic Fever Syndrome

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Expression for Hereditary Periodic Fever Syndrome

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Search GEO for disease gene expression data for Hereditary Periodic Fever Syndrome.
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Pathways for Hereditary Periodic Fever Syndrome

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Pathways related to Hereditary Periodic Fever Syndrome according to GeneCards Suite gene sharing:

(show all 32)
# Super pathways Score Top Affiliating Genes
1
Toll-like Receptor Signaling Pathway 1 36
Show member pathways
 12.75 TNFRSF1A TNF NLRP3
2
Measles 36
Show member pathways
 12.43 TNFRSF1A TNF NLRP3
3
Apoptosis and survival Caspase cascade 22
Show member pathways
 11.91 TNFRSF1A TNF
4
Shigellosis 36
11.87 TNFRSF1A TNF NLRP3
5
Fluid shear stress and atherosclerosis 36
11.8 TNFRSF1A TNF
6
Osteoclast differentiation 36
11.75 TNFRSF1A TNF
7
Pathogenic Escherichia coli infection 36
11.74 TNFRSF1A TNF NLRP3
8
Ceramide Pathway 63
Show member pathways
 11.73 TNFRSF1A TNF
9
Sphingolipid signaling pathway 36
11.71 TNFRSF1A TNF
10
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways 65
Show member pathways
 11.69 NLRP3 MEFV
11
Amyotrophic lateral sclerosis (ALS) 1 36
Show member pathways
 11.68 TNFRSF1A TNF
12
TNF signaling pathway 36
11.67 TNFRSF1A TNF
13
Insulin resistance 36
Show member pathways
 11.65 TNFRSF1A TNF
14
NF-kappa B signaling pathway 36
11.61 TNFRSF1A TNF
15
NOD-like receptor signaling pathway 36
11.59 TNF NLRP3 MEFV
16
Pertussis 36
11.48 TNF NLRP3
17
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway 22
Show member pathways
 11.45 TNFRSF1A TNF
18
NF-kB (NFkB) Pathway 66
11.44 TNFRSF1A TNF
19
Adipocytokine signaling pathway 36
11.41 TNFRSF1A TNF
20
Signaling events mediated by HDAC Class I 1
11.39 TNFRSF1A TNF
21
Necroptosis 36
Show member pathways
 11.37 TNFRSF1A TNF NLRP3
22
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.36 TNFRSF1A TNF
23
Transcription_NF-kB signaling pathway 22
11.27 TNFRSF1A TNF
24
Photodynamic therapy-induced AP-1 survival signaling. 1
11.23 TNFRSF1A TNF
25
Cellular Transformation by HTLV1 63
Show member pathways
 11.21 TNFRSF1A TNF
26
Interleukin-10 signaling 65
11.18 TNFRSF1A TNF
27
Signal transduction_JNK pathway 22
11.12 TNFRSF1A TNF
28
Ceramide signaling pathway 1
11.1 TNFRSF1A TNF
29
Nucleotide-binding Oligomerization Domain (NOD) pathway 1
11.05 NLRP3 MEFV
30
14-3-3 and Regulation of BAD Activity 63
10.91 TNFRSF1A TNF
31
Yersinia infection 36
10.88 TNF NLRP3 MEFV
32
Canonical NF-kappaB pathway 1
10.73 TNFRSF1A TNF
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GO Terms for Hereditary Periodic Fever Syndrome

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Biological processes related to Hereditary Periodic Fever Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor-mediated signaling pathway GO:0033209 9.57 TNFRSF1A TNF
2 defense response to Gram-positive bacterium GO:0050830 9.56 TNF NLRP3
3 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.55 TNF NLRP3
4 positive regulation of inflammatory response GO:0050729 9.54 TNFRSF1A TNF
5 regulation of inflammatory response GO:0050727 9.52 TNF NLRP3
6 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.51 TNFRSF1A TNF
7 defense response GO:0006952 9.5 TNFRSF1A TNF NLRP3
8 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.49 TNFRSF1A TNF
9 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.48 TNF NLRP3
10 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.46 TNFRSF1A TNF
11 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.43 TNFRSF1A TNF
12 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.4 TNFRSF1A TNF
13 positive regulation of ceramide biosynthetic process GO:2000304 9.37 TNFRSF1A TNF
14 negative regulation of inflammatory response GO:0050728 9.33 TNFRSF1A NLRP3 MEFV
15 death-inducing signaling complex assembly GO:0071550 9.26 TNFRSF1A TNF
16 regulation of establishment of endothelial barrier GO:1903140 8.96 TNFRSF1A TNF
17 inflammatory response GO:0006954 8.92 TNFRSF1A TNF NLRP3 MEFV
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Sources for Hereditary Periodic Fever Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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