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MCID: HRD214
MIFTS: 34

Hereditary Periodic Fever Syndrome

Categories: Blood diseases, Bone diseases, Genetic 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 59
Hereditary Periodic Fever Syndromes 55

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Bone diseases Skin diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare systemic and rhumatological diseases


External Ids:

ICD10 via Orphanet 34 E85.0
Orphanet 59 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 muckle-wells syndrome and familial mediterranean fever. 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 MicroRNAs in cardiomyocyte hypertrophy. The drugs Antibodies and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include bone, monocytes and liver, 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 82)
# Related Disease Score Top Affiliating Genes
1 muckle-wells syndrome 31.3 TNFRSF1A NLRP3 MEFV
2 familial mediterranean fever 30.7 TNFRSF1A TNF NLRP3 MEFV
3 periodic fever, familial, autosomal dominant 30.6 TNFRSF1A TNF NLRP3 MEFV
4 cinca syndrome 29.5 NLRP3 MEFV
5 exanthem 29.4 TNF NLRP3
6 vasculitis 29.3 TNF MEFV
7 amyloidosis 29.3 TNFRSF1A NLRP3 MEFV
8 wells syndrome 29.2 TNFRSF1A NLRP3 MEFV
9 relapsing fever 29.2 TNFRSF1A TNF MEFV
10 adult-onset still's disease 29.2 TNFRSF1A TNF MEFV
11 familial cold autoinflammatory syndrome 1 29.0 TNFRSF1A NLRP3 MEFV
12 familial cold autoinflammatory syndrome 2 11.9
13 familial mediterranean fever, autosomal dominant 11.2
14 hyper-igd syndrome 10.3
15 pyoderma 10.2 TNF MEFV
16 mevalonic aciduria 10.2
17 stomatitis 10.2 TNF MEFV
18 systemic onset juvenile idiopathic arthritis 10.1 TNF MEFV
19 autoinflammation, panniculitis, and dermatosis syndrome 10.1 TNF MEFV
20 juvenile ankylosing spondylitis 10.1 TNF MEFV
21 proteasome-associated autoinflammatory syndrome 1 10.1
22 familial cold autoinflammatory syndrome 10.1
23 amyloidosis aa 10.1
24 erysipelas 10.1 TNF MEFV
25 hypersensitivity reaction type iii disease 10.1 TNF MEFV
26 intermittent hydrarthrosis 10.1 TNFRSF1A MEFV
27 inflammatory myopathy with abundant macrophages 10.1 TNFRSF1A MEFV
28 idiopathic recurrent pericarditis 10.1 TNFRSF1A MEFV
29 autoimmune myocarditis 10.0 TNFRSF1A TNF
30 chronic gonococcal salpingitis 10.0 TNFRSF1A TNF
31 retinitis pigmentosa 75 10.0 TNFRSF1A TNF
32 pleurisy 10.0 TNF MEFV
33 urticaria 10.0
34 cold urticaria 10.0
35 dystrophinopathies 10.0 TNFRSF1A TNF
36 spondylarthropathy 10.0 TNFRSF1A TNF
37 brucellosis 10.0 TNF MEFV
38 acute salpingitis 10.0 TNFRSF1A TNF
39 chronic salpingitis 10.0 TNFRSF1A TNF
40 post-transplant lymphoproliferative disease 10.0 TNFRSF1A TNF
41 amyloidosis, familial visceral 9.9 TNFRSF1A MEFV
42 primary bacterial infectious disease 9.9 TNF MEFV
43 guillain-barre syndrome 9.9 TNFRSF1A TNF
44 autoimmune disease 9.9
45 rheumatoid arthritis 9.9
46 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
47 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
48 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 9.9
49 autosomal recessive disease 9.9
50 renal hypertension 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:

46
# 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
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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 Phase 3
2 Immunologic Factors Phase 3
3 Antibodies, Monoclonal Phase 3
4 Immunoglobulins 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:

41
Bone, Monocytes, Liver, Skin, 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. 9 38
19877056 2009
2
Autoinflammatory syndromes with a dermatological perspective. 9 38
17727363 2007
3
[Muckle-Wells syndrome: a rare periodic fever syndrome]. 9 38
16901068 2006
4
[Hereditary periodic fever]. 9 38
15243709 2004
5
Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis. 9 38
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? 9 38
14679589 2004
7
Familial Mediterranean Fever. 38
30686512 2019
8
A Clinical Study of Effect of Hyperpyrexia on Otoacoustic Emissions in Children. 38
30211105 2018
9
Novel insights into the role of inflammasomes in autoimmune and metabolic rheumatic diseases. 38
29869008 2018
10
A Comprehensive Overview of the Hereditary Periodic Fever Syndromes. 38
27068928 2018
11
Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes. 38
29159471 2018
12
Cardiovascular disease in patients with autoinflammatory syndromes. 38
29094181 2018
13
Tumor necrosis factor-associated periodic syndrome in adults. 38
28942479 2018
14
Musculoskeletal manifestations in hereditary periodic fever syndromes. 38
29742055 2018
15
Updated overview of molecular pathways involved in the most common monogenic autoinflammatory diseases. 38
29742053 2018
16
A clinical update on inflammasomopathies. 38
28387826 2017
17
Autoinflammatory Diseases in Pediatric Dermatology-Part 1: Urticaria-like Syndromes, Pustular Syndromes, and Mucocutaneous Ulceration Syndromes. 38
28442130 2017
18
The diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy. 38
28194697 2017
19
Monogenic Periodic Fever Syndromes: Treatment Options for the Pediatric Patient. 38
28497352 2017
20
Muckle-Wells syndrome in the setting of basal cell nevus syndrome. 38
28686751 2017
21
Severe liver involvement in two patients with long-term history of fever: remember familial Mediterranean fever. 38
27659912 2016
22
Early Onset of Periodic Fever Syndrome in a Patient Carrying Both Tumor Necrosis Factor Receptor Superfamily 1A and Mediterranean Fever Mutations. 38
29900987 2016
23
Adult autoinflammatory disease frequency and our diagnostic experience in an adult autoinflammatory clinic. 38
26620106 2016
24
Protective and detrimental roles of inflammasomes in disease. 38
25895577 2015
25
Advances in the genetically complex autoinflammatory diseases. 38
26077134 2015
26
Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation. 38
25766347 2015
27
[Cryopyrine-associated periodic syndrome: CAPS seen from adulthood]. 38
25595876 2015
28
Fatal sulfasalazine-induced eosinophilic myocarditis in a patient with periodic fever syndrome. 38
25531204 2015
29
Periodic fevers in adult Greeks: clinical and molecular presentation. 38
24708999 2014
30
Defects in mitochondrial clearance predispose human monocytes to interleukin-1β hypersecretion. 38
24356959 2014
31
IL-1 blockade in autoinflammatory syndromes. 38
24422572 2014
32
Evaluation of hearing in patients with familial Mediterranean fever. 38
23306349 2013
33
Functions of NOD-Like Receptors in Human Diseases. 38
24137163 2013
34
Innate immunity functional gene polymorphisms and gout susceptibility. 38
23639963 2013
35
Monogenic autoinflammatory diseases: concept and clinical manifestations. 38
23711932 2013
36
AA amyloidosis complicating the hereditary periodic fever syndromes. 38
23280696 2013
37
Autoinflammatory gene polymorphisms and susceptibility to UK juvenile idiopathic arthritis. 38
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. 38
23375471 2013
39
Role of autoimmunity and autoinflammation in the pathogenesis of idiopathic recurrent pericarditis. 38
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. 38
23015306 2013
41
Amyloidosis in a child with hyperimmunoglobulinemia D syndrome. 38
23314147 2013
42
Periodic fevers with aphthous stomatitis, pharyngitis, and adenitis (PFAPA). 38
22878272 2012
43
The diagnostic evaluation of patients with potential adult-onset autoinflammatory disorders: our experience and review of the literature. 38
22878268 2012
44
Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience. 38
22281876 2012
45
[Autoinflammatory syndromes in dermatology]. 38
22545497 2012
46
Inflammasomes: far beyond inflammation. 38
22430784 2012
47
The inflammasome: in memory of Dr. Jurg Tschopp. 38
22075986 2012
48
Mevalonate kinase deficiency: disclosing the role of mevalonate pathway modulation in inflammation. 38
22726114 2012
49
[Autoinflammatory syndromes/fever syndromes]. 38
21541834 2011
50
The Eurofever Project: towards better care for autoinflammatory diseases. 38
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 27)
# Super pathways Score Top Affiliating Genes
1
Toll-like Receptor Signaling Pathway 37 1
Show member pathways
 11.86 TNFRSF1A TNF NLRP3 MEFV
2
MicroRNAs in cardiomyocyte hypertrophy 1
Show member pathways
 11.83 TNFRSF1A TNF
3
Fluid shear stress and atherosclerosis 37
11.77 TNFRSF1A TNF
4
Osteoclast differentiation 37
11.73 TNFRSF1A TNF
5
Ceramide Pathway 64
Show member pathways
 11.71 TNFRSF1A TNF
6
Sphingolipid signaling pathway 37
11.69 TNFRSF1A TNF
7
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways 66
Show member pathways
 11.67 NLRP3 MEFV
8
Amyotrophic lateral sclerosis (ALS) 37 1
Show member pathways
 11.66 TNFRSF1A TNF
9
TNF signaling pathway 37
11.64 TNFRSF1A TNF
10
Insulin resistance 37
Show member pathways
 11.63 TNFRSF1A TNF
11
NF-kappa B signaling pathway 37
11.58 TNFRSF1A TNF
12
Pertussis 37
11.45 TNF NLRP3
13
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway 22
Show member pathways
 11.42 TNFRSF1A TNF
14
NF-kB (NFkB) Pathway 67
11.4 TNFRSF1A TNF
15
Adipocytokine signaling pathway 37
11.38 TNFRSF1A TNF
16
Necroptosis 37
Show member pathways
 11.37 TNFRSF1A TNF NLRP3
17
Signaling events mediated by HDAC Class I 1
11.34 TNFRSF1A TNF
18
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.31 TNFRSF1A TNF
19
Transcription_NF-kB signaling pathway 22
11.23 TNFRSF1A TNF
20
Photodynamic therapy-induced AP-1 survival signaling. 1
11.18 TNFRSF1A TNF
21
Cellular Transformation by HTLV1 64
Show member pathways
 11.16 TNFRSF1A TNF
22
Interleukin-10 signaling 66
11.12 TNFRSF1A TNF
23
Signal transduction_JNK pathway 22
11.05 TNFRSF1A TNF
24
Ceramide signaling pathway 1
11.01 TNFRSF1A TNF
25
Nucleotide-binding Oligomerization Domain (NOD) pathway 1
10.93 NLRP3 MEFV
26
14-3-3 and Regulation of BAD Activity 64
10.76 TNFRSF1A TNF
27
Canonical NF-kappaB pathway 1
10.52 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 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.58 TNF NLRP3
2 protein localization to plasma membrane GO:0072659 9.57 TNFRSF1A TNF
3 defense response to Gram-positive bacterium GO:0050830 9.56 TNF NLRP3
4 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.55 TNF NLRP3
5 positive regulation of inflammatory response GO:0050729 9.54 TNFRSF1A TNF
6 tumor necrosis factor-mediated signaling pathway GO:0033209 9.52 TNFRSF1A TNF
7 regulation of inflammatory response GO:0050727 9.51 TNF NLRP3
8 defense response GO:0006952 9.5 TNFRSF1A TNF NLRP3
9 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.49 TNFRSF1A TNF
10 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.48 TNFRSF1A TNF
11 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.46 TNF NLRP3
12 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.43 TNFRSF1A TNF
13 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.4 TNFRSF1A TNF
14 positive regulation of ceramide biosynthetic process GO:2000304 9.37 TNFRSF1A TNF
15 death-inducing signaling complex assembly GO:0071550 9.26 TNFRSF1A TNF
16 regulation of establishment of endothelial barrier GO:1903140 9.16 TNFRSF1A TNF
17 negative regulation of inflammatory response GO:0050728 9.13 TNFRSF1A NLRP3 MEFV
18 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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