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MCID: HRD214
MIFTS: 30

Hereditary Periodic Fever Syndrome

Categories: Blood diseases, Bone diseases, Eye diseases, Genetic diseases, Immune diseases, Muscle diseases, Rare diseases, Skin diseases
Genes Tissues Related diseases Publications Pathways
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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 Eye diseases Muscle 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 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 Measles and Salmonella infection (KEGG). Affiliated tissues include monocytes, 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 113)
# Related Disease Score Top Affiliating Genes
1 familial cold autoinflammatory syndrome 2 32.1 NLRP3 MEFV
2 familial mediterranean fever 30.8 TNFRSF1A TNF NLRP3 MEFV
3 periodic fever, familial, autosomal dominant 30.8 TNFRSF1A TNF NLRP3 MEFV
4 muckle-wells syndrome 30.7 TNFRSF1A TNF NLRP3 MEFV
5 familial cold autoinflammatory syndrome 30.4 NLRP3 MEFV
6 urticaria 30.2 TNF NLRP3
7 vasculitis 30.1 TNF MEFV
8 brucellosis 30.0 TNF MEFV
9 proteasome-associated autoinflammatory syndrome 1 30.0 TNF NLRP3 MEFV
10 wells syndrome 29.9 TNFRSF1A NLRP3 MEFV
11 juvenile rheumatoid arthritis 29.7 TNFRSF1A TNF
12 exanthem 29.7 TNF NLRP3 MEFV
13 relapsing fever 29.5 TNFRSF1A TNF MEFV
14 mevalonic aciduria 29.5 TNFRSF1A TNF NLRP3 MEFV
15 cinca syndrome 29.4 TNFRSF1A NLRP3 MEFV
16 adult-onset still's disease 29.0 TNFRSF1A TNF NLRP3 MEFV
17 arthritis 29.0 TNFRSF1A TNF NLRP3 MEFV
18 amyloidosis 28.9 TNFRSF1A TNF NLRP3 MEFV
19 familial mediterranean fever, autosomal dominant 11.2
20 hyper-igd syndrome 10.4
21 cold urticaria 10.2
22 juvenile ankylosing spondylitis 10.1 TNF MEFV
23 systemic onset juvenile idiopathic arthritis 10.1 TNF MEFV
24 autoimmune disease 10.0
25 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
26 autosomal recessive disease 10.0
27 fasciitis 10.0
28 cryopyrin-associated periodic syndrome 10.0
29 autoinflammatory syndrome 10.0
30 enthesopathy 10.0 TNF MEFV
31 neutrophilic dermatosis, acute febrile 10.0 TNF MEFV
32 erysipelas 10.0 TNF MEFV
33 hypersensitivity vasculitis 10.0 TNF MEFV
34 hypersensitivity reaction type iii disease 10.0 TNF MEFV
35 pericardium disease 10.0 TNF MEFV
36 pleurisy 10.0 TNF MEFV
37 autoimmune disease of cardiovascular system 10.0 TNF MEFV
38 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.0
39 proteinuria, chronic benign 10.0
40 renal hypertension 10.0
41 nephrotic syndrome 10.0
42 amyloidosis aa 10.0
43 psoriatic juvenile idiopathic arthritis 10.0 NLRP3 MEFV
44 vulvar vestibulitis syndrome 10.0 TNF NLRP3
45 mycobacterium abscessus 10.0 TNF NLRP3
46 familial cold autoinflammatory syndrome 1 10.0 NLRP3 MEFV
47 purpura 10.0 TNF MEFV
48 chronic meningitis 10.0 NLRP3 MEFV
49 meningitis 10.0 TNF NLRP3
50 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 10.0 NLRP3 MEFV

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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Search Clinical Trials , 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
Monocytes
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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 113)
# 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. 61 54
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. 61 54
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
Designation of Autoinflammatory Skin Manifestations With Specific Genetic Backgrounds. 61
32256502 2020
8
PIK3AP1 and SPON2 Genes Are Differentially Methylated in Patients With Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis (PFAPA) Syndrome. 61
32793186 2020
9
Familial Mediterranean Fever. 61
30686512 2019
10
Monogenic autoinflammatory diseases in adults - a challenge to rheumatologic practice at the onset of the Polish national programme of interleukin 1 inhibitor treatment. 61
32226166 2019
11
A Clinical Study of Effect of Hyperpyrexia on Otoacoustic Emissions in Children. 61
30211105 2018
12
Novel insights into the role of inflammasomes in autoimmune and metabolic rheumatic diseases. 61
29869008 2018
13
A Comprehensive Overview of the Hereditary Periodic Fever Syndromes. 61
27068928 2018
14
Cardiovascular disease in patients with autoinflammatory syndromes. 61
29094181 2018
15
Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes. 61
29159471 2018
16
Tumor necrosis factor-associated periodic syndrome in adults. 61
28942479 2018
17
Musculoskeletal manifestations in hereditary periodic fever syndromes. 61
29742055 2018
18
Updated overview of molecular pathways involved in the most common monogenic autoinflammatory diseases. 61
29742053 2018
19
A clinical update on inflammasomopathies. 61
28387826 2017
20
Autoinflammatory Diseases in Pediatric Dermatology-Part 1: Urticaria-like Syndromes, Pustular Syndromes, and Mucocutaneous Ulceration Syndromes. 61
28442130 2017
21
Monogenic Periodic Fever Syndromes: Treatment Options for the Pediatric Patient. 61
28497352 2017
22
The diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy. 61
28194697 2017
23
Muckle-Wells syndrome in the setting of basal cell nevus syndrome. 61
28686751 2017
24
Early Onset of Periodic Fever Syndrome in a Patient Carrying Both Tumor Necrosis Factor Receptor Superfamily 1A and Mediterranean Fever Mutations. 61
29900987 2016
25
Severe liver involvement in two patients with long-term history of fever: remember familial Mediterranean fever. 61
27659912 2016
26
Adult autoinflammatory disease frequency and our diagnostic experience in an adult autoinflammatory clinic. 61
26620106 2016
27
Protective and detrimental roles of inflammasomes in disease. 61
25895577 2015
28
Advances in the genetically complex autoinflammatory diseases. 61
26077134 2015
29
[Cryopyrine-associated periodic syndrome: CAPS seen from adulthood]. 61
25595876 2015
30
Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation. 61
25766347 2015
31
Fatal sulfasalazine-induced eosinophilic myocarditis in a patient with periodic fever syndrome. 61
25531204 2015
32
Periodic fevers in adult Greeks: clinical and molecular presentation. 61
24708999 2014
33
Defects in mitochondrial clearance predispose human monocytes to interleukin-1β hypersecretion. 61
24356959 2014
34
IL-1 blockade in autoinflammatory syndromes. 61
24422572 2014
35
Evaluation of hearing in patients with familial Mediterranean fever. 61
23306349 2013
36
Functions of NOD-Like Receptors in Human Diseases. 61
24137163 2013
37
Innate immunity functional gene polymorphisms and gout susceptibility. 61
23639963 2013
38
Monogenic autoinflammatory diseases: concept and clinical manifestations. 61
23711932 2013
39
AA amyloidosis complicating the hereditary periodic fever syndromes. 61
23280696 2013
40
Autoinflammatory gene polymorphisms and susceptibility to UK juvenile idiopathic arthritis. 61
23547563 2013
41
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
42
Role of autoimmunity and autoinflammation in the pathogenesis of idiopathic recurrent pericarditis. 61
21170606 2013
43
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
44
Amyloidosis in a child with hyperimmunoglobulinemia D syndrome. 61
23314147 2013
45
Periodic fevers with aphthous stomatitis, pharyngitis, and adenitis (PFAPA). 61
22878272 2012
46
The diagnostic evaluation of patients with potential adult-onset autoinflammatory disorders: our experience and review of the literature. 61
22878268 2012
47
Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience. 61
22281876 2012
48
[Autoinflammatory syndromes in dermatology]. 61
22545497 2012
49
Inflammasomes: far beyond inflammation. 61
22430784 2012
50
The inflammasome: in memory of Dr. Jurg Tschopp. 61
22075986 2012
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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
Measles 36
Show member pathways
 12.45 TNFRSF1A TNF NLRP3
2
Salmonella infection (KEGG) 36
Show member pathways
 12.34 TNFRSF1A TNF NLRP3
3
Apoptosis and survival Caspase cascade 23
Show member pathways
 11.91 TNFRSF1A TNF
4
Shigellosis 36
11.82 TNFRSF1A TNF NLRP3
5
Fluid shear stress and atherosclerosis 36
11.8 TNFRSF1A TNF
6
Osteoclast differentiation 36
11.75 TNFRSF1A TNF
7
Ceramide Pathway 63
Show member pathways
 11.73 TNFRSF1A TNF
8
Sphingolipid signaling pathway 36
11.71 TNFRSF1A TNF
9
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways 65
Show member pathways
 11.69 NLRP3 MEFV
10
TNF signaling pathway 36
11.68 TNFRSF1A TNF
11
Insulin resistance 36
Show member pathways
 11.66 TNFRSF1A TNF
12
NF-kappa B signaling pathway 36
11.63 TNFRSF1A TNF
13
NOD-like receptor signaling pathway 36
11.59 TNF NLRP3 MEFV
14
TNF Superfamily Pathway: Human Ligand-Receptor Interactions and their Associated Functions 64
Show member pathways
 11.53 TNFRSF1A TNF
15
Pertussis 36
11.49 TNF NLRP3
16
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway 23
Show member pathways
 11.46 TNFRSF1A TNF
17
Adipocytokine signaling pathway 36
11.43 TNFRSF1A TNF
18
Signaling events mediated by HDAC Class I 1
11.4 TNFRSF1A TNF
19
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.38 TNFRSF1A TNF
20
Necroptosis 36
Show member pathways
 11.36 TNFRSF1A TNF NLRP3
21
Transcription_NF-kB signaling pathway 23
11.29 TNFRSF1A TNF
22
Photodynamic therapy-induced AP-1 survival signaling. 1
11.26 TNFRSF1A TNF
23
Cellular Transformation by HTLV1 63
Show member pathways
 11.24 TNFRSF1A TNF
24
Interleukin-10 signaling 65
11.21 TNFRSF1A TNF
25
Signal transduction_JNK pathway 23
11.14 TNFRSF1A TNF
26
Ceramide signaling pathway 1
11.12 TNFRSF1A TNF
27
Nucleotide-binding Oligomerization Domain (NOD) pathway 1
11.07 NLRP3 MEFV
28
Amyotrophic lateral sclerosis (ALS) 1
11.01 TNFRSF1A TNF
29
IL-15 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types 64
Show member pathways
 10.96 TNFRSF1A TNF
30
Yersinia infection 36
10.94 TNF NLRP3 MEFV
31
14-3-3 and Regulation of BAD Activity 63
10.87 TNFRSF1A TNF
32
Canonical NF-kappaB pathway 1
10.68 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 16)
# Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor-mediated signaling pathway GO:0033209 9.56 TNFRSF1A TNF
2 positive regulation of inflammatory response GO:0050729 9.55 TNFRSF1A TNF
3 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.54 TNFRSF1A TNF
4 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.52 TNFRSF1A TNF
5 positive regulation of interleukin-1 beta production GO:0032731 9.51 TNF NLRP3
6 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.49 TNF NLRP3
7 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.48 TNFRSF1A TNF
8 negative regulation of interleukin-1 beta production GO:0032691 9.46 NLRP3 MEFV
9 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.43 TNFRSF1A TNF
10 defense response GO:0006952 9.43 TNFRSF1A TNF NLRP3
11 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.4 TNFRSF1A TNF
12 positive regulation of ceramide biosynthetic process GO:2000304 9.37 TNFRSF1A TNF
13 regulation of establishment of endothelial barrier GO:1903140 9.32 TNFRSF1A TNF
14 death-inducing signaling complex assembly GO:0071550 9.16 TNFRSF1A TNF
15 negative regulation of inflammatory response GO:0050728 9.13 TNFRSF1A NLRP3 MEFV
16 inflammatory response GO:0006954 8.92 TNFRSF1A TNF NLRP3 MEFV

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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