FHF
MCID: PRD013
MIFTS: 65

Periodic Fever, Familial, Autosomal Dominant (FHF)

Categories: Blood diseases, Bone diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Periodic Fever, Familial, Autosomal Dominant

MalaCards integrated aliases for Periodic Fever, Familial, Autosomal Dominant:

Name: Periodic Fever, Familial, Autosomal Dominant 57 53
Tumor Necrosis Factor Receptor-Associated Periodic Syndrome 57 53 25 75 37 55
Familial Hibernian Fever 57 12 53 25 59 75
Tnf Receptor-Associated Periodic Fever Syndrome 53 25 29 6 40
Traps 57 76 53 25 75
Autosomal Dominant Familial Periodic Fever 12 25 15
Tnf Receptor-Associated Periodic Syndrome 57 53 75
Hibernian Fever, Familial 57 76 53
Fpf 57 53 25
Fhf 57 53 75
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome 12 59
Tnf Receptor 1-Associated Periodic Syndrome 12 59
Periodic Fever, Familial 57 13
Tumor Necrosis Factor Receptor-Associated Periodic Syndrome; Traps 57
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome 73
Familial Periodic Fever Autosomal Dominant 75
Tnf Receptor Associated Periodic Syndrome 76
Hibernian Fever, Familial; Fhf 57
Familial Periodic Fever 6
Caledonian Fever 75
Traps Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
tumor necrosis factor receptor 1 associated periodic syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: adult,elderly,normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable age at onset
favorable response to high-dose steroids
prevalence of 1 in 150 to 1 in 1,000
high incidence in iraqis and sephardic jewish individuals


HPO:

32
periodic fever, familial, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Periodic Fever, Familial, Autosomal Dominant

NIH Rare Diseases : 53 Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an inherited condition characterized by recurrent episodes of fever. Episodes can begin at any age but most often begin in early childhood. Fevers typically last about 3 weeks but can last from a few days to a few months. The amount of time between episodes may vary from weeks to years. Episodes usually occur spontaneously, but are sometimes brought on by a variety of triggers (such as injury, infection, or stress). Symptoms during fever episodes may include abdominal, muscle or joint pains; skin rashes (usually on the limbs); puffiness around the eyes; and inflammation in various areas of the body. Some people develop amyloidosis. TRAPS is caused by mutations in the TNFRSF1A gene and is inherited in an autosomal dominant manner. Treatment may include systemic corticosteroids at the beginning of an episode to reduce its severity and duration.

MalaCards based summary : Periodic Fever, Familial, Autosomal Dominant, also known as tumor necrosis factor receptor-associated periodic syndrome, is related to hyper-igd syndrome and idiopathic recurrent pericarditis. An important gene associated with Periodic Fever, Familial, Autosomal Dominant is TNFRSF1A (TNF Receptor Superfamily Member 1A), and among its related pathways/superpathways are MAPK signaling pathway and Cytokine-cytokine receptor interaction. The drugs Colchicine and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and lung, and related phenotypes are constipation and behavioral abnormality

Disease Ontology : 12 An autosomal dominant disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has material basis in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13.

Genetics Home Reference : 25 Tumor necrosis factor receptor-associated periodic syndrome (commonly known as TRAPS) is a condition characterized by recurrent episodes of fever. These fevers typically last about 3 weeks but can last from a few days to a few months. The frequency of the episodes varies greatly among affected individuals; fevers can occur anywhere between every 6 weeks to every few years. Some individuals can go many years without having a fever episode. Fever episodes usually occur spontaneously, but sometimes they can be brought on by a variety of triggers, such as minor injury, infection, stress, exercise, or hormonal changes.

UniProtKB/Swiss-Prot : 75 Familial hibernian fever: A hereditary periodic fever syndrome characterized by recurrent fever, abdominal pain, localized tender skin lesions and myalgia. Reactive amyloidosis is the main complication and occurs in 25% of cases.

Wikipedia : 76 TNF receptor associated periodic syndrome (TRAPS) is a periodic fever syndrome associated with mutations... more...

Description from OMIM: 142680

Related Diseases for Periodic Fever, Familial, Autosomal Dominant

Diseases related to Periodic Fever, Familial, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 545)
# Related Disease Score Top Affiliating Genes
1 hyper-igd syndrome 30.5 MVK TNFRSF1A
2 idiopathic recurrent pericarditis 30.3 MEFV TNFRSF1A
3 pericarditis 30.2 MEFV TNF TNFRSF1A
4 mevalonic aciduria 30.2 MVK NLRP3
5 aphthous stomatitis 29.9 MEFV NLRP3 TNF
6 vasculitis 29.9 MEFV TNF TNFRSF1B
7 familial mediterranean fever 29.7 TNFRSF1A TNF NLRP3 MVK MEFV
8 amyloidosis 29.7 LYZ MEFV NLRP3 TNFRSF1A
9 intermittent hydrarthrosis 29.5 MEFV TNFRSF1A
10 pustulosis of palm and sole 29.3 TNF TNFRSF1B
11 adult-onset still's disease 29.2 MEFV TNF TNFRSF1A
12 panuveitis 29.2 TNF TNFRSF1B
13 muckle-wells syndrome 29.2 MEFV NLRP3 TNFRSF1A
14 wells syndrome 29.2 MEFV NLRP3 TNFRSF1A
15 silicosis 29.2 NLRP3 TNF
16 tuberculous meningitis 29.1 LYZ TNF
17 meningitis 28.9 LYZ NLRP3 TNF
18 triiodothyronine receptor auxiliary protein 11.6
19 thyroid dyshormonogenesis 1 11.2
20 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.1
21 epidermoid brain cyst 11.1
22 coronary artery dissection, spontaneous 10.9
23 duodenal atresia 10.9
24 hepatic fibrosis, severe due to schistosoma mansoni infection 10.9
25 dehydrated hereditary stomatocytosis 2 10.9
26 gas gangrene 10.9
27 tonsillitis 10.9
28 fox-fordyce disease 10.9
29 miliaria 10.9
30 paraphimosis 10.9
31 nerve compression syndrome 10.9
32 priapism 10.9
33 catamenial pneumothorax 10.9
34 acute liver failure 10.4
35 malaria 10.2
36 isolated optic neuritis 10.2
37 inflammatory myopathy with abundant macrophages 10.2 MEFV TNFRSF1A
38 pyoderma 10.2 MEFV TNF
39 retinitis pigmentosa 75 10.1 TNF TNFRSF1A
40 amyloidosis aa 10.1
41 cryopyrin-associated periodic syndrome 10.1
42 systemic onset juvenile idiopathic arthritis 10.1 MEFV TNF
43 dystrophinopathies 10.1 TNF TNFRSF1A
44 autoinflammation, panniculitis, and dermatosis syndrome 10.1 MEFV TNF
45 spondylarthropathy 10.1 TNF TNFRSF1A
46 psoriatic juvenile idiopathic arthritis 10.1 MEFV NLRP3
47 erysipelas 10.1 MEFV TNF
48 hypersensitivity reaction type iii disease 10.1 MEFV TNF
49 vulvar vestibulitis syndrome 10.1 NLRP3 TNF
50 pericoronitis 10.1 TNFRSF1A TNFRSF1B

Graphical network of the top 20 diseases related to Periodic Fever, Familial, Autosomal Dominant:



Diseases related to Periodic Fever, Familial, Autosomal Dominant

Symptoms & Phenotypes for Periodic Fever, Familial, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
muscle stiffness
myalgias

Chest:
pleuritic pain

Abdomen Liver:
hepatic amyloidosis

Skin Nails Hair Skin:
migratory rashes, painful

Laboratory Abnormalities:
increased erythrocyte sedimentation rate
increased white blood cell count
systemic amyloidosis may occur

Head And Neck Eyes:
periorbital edema
conjunctival injection

Abdomen:
recurrent abdominal pains

Skeletal:
arthralgias

Metabolic Features:
fever, periodic, recurrent


Clinical features from OMIM:

142680

Human phenotypes related to Periodic Fever, Familial, Autosomal Dominant:

59 32 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
2 behavioral abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0000708
3 arthritis 59 32 frequent (33%) Frequent (79-30%) HP:0001369
4 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
5 vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002013
6 cranial nerve paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0006824
7 arthralgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002829
8 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
9 migraine 59 32 occasional (7.5%) Occasional (29-5%) HP:0002076
10 myalgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003326
11 paresthesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003401
12 intestinal obstruction 59 32 frequent (33%) Frequent (79-30%) HP:0005214
13 abnormal myocardium morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001637
14 vertigo 59 32 occasional (7.5%) Occasional (29-5%) HP:0002321
15 leukocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0001974
16 chest pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0100749
17 diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002014
18 erythema 59 32 frequent (33%) Frequent (79-30%) HP:0010783
19 pericarditis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001701
20 recurrent pharyngitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100776
21 conjunctivitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000509
22 skin rash 59 32 hallmark (90%) Very frequent (99-80%) HP:0000988
23 cellulitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100658
24 bruising susceptibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0000978
25 vasculitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002633
26 periorbital edema 59 32 occasional (7.5%) Occasional (29-5%) HP:0100539
27 hypermelanotic macule 59 32 occasional (7.5%) Occasional (29-5%) HP:0001034
28 elevated c-reactive protein level 59 32 hallmark (90%) Very frequent (99-80%) HP:0011227
29 lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002716
30 myositis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100614
31 peritonitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002586
32 uveitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000554
33 abnormality of the sacroiliac joint 59 32 occasional (7.5%) Occasional (29-5%) HP:0100781
34 pleuritis 59 32 frequent (33%) Frequent (79-30%) HP:0002102
35 orchitis 59 32 frequent (33%) Frequent (79-30%) HP:0100796
36 fasciitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100537
37 elevated erythrocyte sedimentation rate 59 32 hallmark (90%) Very frequent (99-80%) HP:0003565
38 episodic fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001954
39 erysipelas 59 32 hallmark (90%) Very frequent (99-80%) HP:0001055
40 edema 32 HP:0000969
41 muscle stiffness 32 HP:0003552
42 macule 59 Very frequent (99-80%)
43 amyloidosis 32 HP:0011034
44 conjunctival hyperemia 32 HP:0030953
45 hepatic amyloidosis 32 HP:0012280

MGI Mouse Phenotypes related to Periodic Fever, Familial, Autosomal Dominant:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.04 LYZ MEFV NLRP3 TNF TNFRSF1A TNFRSF1B
2 growth/size/body region MP:0005378 10 LYZ MEFV NLRP3 TNF TNFRSF1A TNFRSF1B
3 hematopoietic system MP:0005397 9.91 LYZ MEFV NLRP3 TNF TNFRSF1A TNFRSF1B
4 digestive/alimentary MP:0005381 9.88 LYZ NLRP3 TNF TNFRSF1A TNFRSF1B
5 immune system MP:0005387 9.88 LYZ MEFV NLRP3 TNF TNFRSF1A TNFRSF1B
6 integument MP:0010771 9.85 LYZ MEFV NLRP3 TNF TNFRSF1A TNFRSF1B
7 adipose tissue MP:0005375 9.81 LYZ TNF TNFRSF1A TNFRSF1B
8 liver/biliary system MP:0005370 9.8 LYZ MEFV NLRP3 TNF TNFRSF1A TNFRSF1B
9 mortality/aging MP:0010768 9.8 LYZ MEFV NLRP3 TNF TNFRSF1A TNFRSF1B
10 neoplasm MP:0002006 9.46 LYZ TNF TNFRSF1A TNFRSF1B
11 normal MP:0002873 9.35 LYZ MEFV NLRP3 TNFRSF1B TPT1
12 skeleton MP:0005390 9.1 LYZ MEFV NLRP3 TNF TNFRSF1A TNFRSF1B

Drugs & Therapeutics for Periodic Fever, Familial, Autosomal Dominant

Drugs for Periodic Fever, Familial, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Colchicine Approved Phase 3 64-86-8 6167 2833
2 Immunoglobulins Phase 3
3 Pharmaceutical Solutions Phase 3
4 Antibodies, Monoclonal Phase 3
5 Antibodies Phase 3
6 Immunologic Factors Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Extention Study of Safety of Canakinumab in Japanese Patients With Periodic Fever Syndromes Completed NCT02911857 Phase 3
2 Efficacy and Safety Study of ACZ885 in Patients With Active Recurrent or Chronic TNF-receptor Associated Periodic Syndrome (TRAPS). Completed NCT01242813 Phase 2 ACZ885
3 Phenomics in Autoimmune and Inflammatory Diseases Recruiting NCT02466217

Search NIH Clinical Center for Periodic Fever, Familial, Autosomal Dominant

Genetic Tests for Periodic Fever, Familial, Autosomal Dominant

Genetic tests related to Periodic Fever, Familial, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Tnf Receptor-Associated Periodic Fever Syndrome (traps) 29 TNFRSF1A

Anatomical Context for Periodic Fever, Familial, Autosomal Dominant

MalaCards organs/tissues related to Periodic Fever, Familial, Autosomal Dominant:

41
Skin, Eye, Lung, Brain, Bone, Heart, Thyroid

Publications for Periodic Fever, Familial, Autosomal Dominant

Articles related to Periodic Fever, Familial, Autosomal Dominant:

(show top 50) (show all 80)
# Title Authors Year
1
A novel TNFRSF1A gene mutation in a patient with tumor necrosis factor receptor-associated periodic syndrome. ( 27793577 )
2018
2
Recurrent fever and arthralgia as the presentation of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Chinese girl: a case report and review of the literature. ( 29450850 )
2018
3
Systemic Vasculopathy in a Patient With Tumor Necrosis Factor Receptor-Associated Periodic Syndrome: Erratum. ( 30044315 )
2018
4
International Retrospective Chart Review of Treatment Patterns in Severe Familial Mediterranean Fever, Tumor Necrosis Factor Receptor-Associated Periodic Syndrome, and Mevalonate Kinase Deficiency/Hyperimmunoglobulinemia D Syndrome. ( 27723279 )
2017
5
Tumor necrosis factor inhibitors in tumor necrosis factor receptor-associated periodic syndrome: still a chance to work? ( 27817124 )
2017
6
Novel mutation identified in severe early-onset tumor necrosis factor receptor-associated periodic syndrome: a case report. ( 28427379 )
2017
7
Efficacy and safety of anakinra in tumor necrosis factor receptor-associated periodic syndrome (TRAPS) complicated by severe renal failure: a report after long-term follow-up and review of the literature. ( 28536823 )
2017
8
Systemic Vasculopathy in a Patient With Tumor Necrosis Factor Receptor-Associated Periodic Syndrome. ( 28937477 )
2017
9
Efficacy of anakinra in an adult patient with recurrent pericarditis and cardiac tamponade as initial manifestations of tumor necrosis factor receptor-associated periodic syndrome due to the R92Q TNFRSF1A variant. ( 27990755 )
2016
10
Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-Nucleotide TNFRSF1A Deletion. ( 26992170 )
2016
11
Tumor necrosis factor receptor-associated periodic syndrome managed with the couple canakinumab-alendronate. ( 24609716 )
2015
12
Delights and let-downs in the management of tumor necrosis factor receptor-associated periodic syndrome: the canakinumab experience in a patient with a high-penetrance T50M TNFRSF1A variant. ( 25522898 )
2015
13
Canakinumab efficacy and long-term tocilizumab administration in tumor necrosis factor receptor-associated periodic syndrome (TRAPS). ( 26048626 )
2015
14
TNFRSF1A Gene Causing Tumor Necrosis Factor Receptor-associated Periodic Syndrome in 2 Siblings Displaying Variable Disease Severity and Discordant Heterozygosity for an MEFV E148Q Variant. ( 26233954 )
2015
15
Successful treatment of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) with tocilizumab: A case report. ( 27708919 )
2015
16
Key facts and hot spots on tumor necrosis factor receptor-associated periodic syndrome. ( 24935411 )
2014
17
Tumor necrosis factor receptor-associated periodic syndrome as a model linking autophagy and inflammation in protein aggregation diseases. ( 24706103 )
2014
18
Overlap syndrome between Familial Mediterranean fever and tumor necrosis factor receptor-associated periodic syndrome in a lupus patient. ( 24835548 )
2014
19
Recurrent abdominal pain as the presentation of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in an Asian girl: a case report and review of the literature. ( 22921805 )
2014
20
Modified regimen of etanercept for tumor necrosis factor receptor associated periodic syndrome (TRAPS) like illness. ( 24561467 )
2014
21
Inflammatory response to heparinoid and heparin in a patient with tumor necrosis factor receptor-associated periodic syndrome: the second case with a T61I mutation in the TNFRSF1A gene. ( 25387410 )
2014
22
Tumor necrosis factor receptor-associated periodic syndrome as a cause of recurrent abdominal pain in identical twins and description of a novel mutation of the TNFRSF1A gene. ( 22343913 )
2013
23
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in Japan: a review of the literature. ( 22918594 )
2013
24
Different presentations in patients with tumor necrosis factor receptor-associated periodic syndrome mutations: report of two cases. ( 23692837 )
2013
25
Advances in the diagnosis and treatment of tumor necrosis factor receptor-associated periodic syndrome. ( 23891452 )
2013
26
Serum leptin, resistin, visfatin and adiponectin levels in tumor necrosis factor receptor-associated periodic syndrome (TRAPS). ( 22935190 )
2012
27
Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis: results of a multicentre study. ( 22311714 )
2012
28
Typical and severe tumor necrosis factor receptor-associated periodic syndrome in the absence of mutations in the TNFRSF1A gene: a case series. ( 20473499 )
2012
29
Efficacy of etanercept in the tumor necrosis factor receptor-associated periodic syndrome: a prospective, open-label, dose-escalation study. ( 22006113 )
2012
30
Heparin serves as a natural stimulant of the inflammasome and exacerbates the symptoms of tumor necrosis factor receptor-associated periodic syndrome (TRAPS). ( 22293543 )
2012
31
Successful treatment of tumor necrosis factor receptor-associated periodic syndrome with canakinumab. ( 22711098 )
2012
32
Successful treatment of a patient with tumor necrosis factor receptor-associated periodic syndrome using a half-dose of etanercept. ( 22830546 )
2012
33
Candidate genes in patients with autoinflammatory syndrome resembling tumor necrosis factor receptor-associated periodic syndrome without mutations in the TNFRSF1A gene. ( 21459945 )
2011
34
Missense mutation V20A in the tumor necrosis factor receptor superfamily 1A (TNFRSF1A) gene is associated with tumor necrosis factor receptor-associated periodic syndrome (TRAPS) presenting with periodic gastrointestinal symptoms. ( 21113948 )
2011
35
Role of interleukin-6 in a patient with tumor necrosis factor receptor-associated periodic syndrome: assessment of outcomes following treatment with the anti-interleukin-6 receptor monoclonal antibody tocilizumab. ( 21225679 )
2011
36
A novel mutation in TNFRSF1A associated with overlapping features of tumor necrosis factor receptor-associated periodic syndrome and hyper-IgD syndrome. ( 20346247 )
2010
37
Sacroileitis and pericarditis: atypical presentation of tumor necrosis factor receptor-associated periodic syndrome and response to etanercept therapy. ( 20483057 )
2010
38
Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site. ( 20169391 )
2010
39
Tumor necrosis factor receptor-associated periodic syndrome P46L and bilateral amputation in diabetes. ( 20634234 )
2010
40
Role of etanercept in the treatment of tumor necrosis factor receptor-associated periodic syndrome: personal experience and review of the literature. ( 20943039 )
2010
41
Skin manifestations in tumor necrosis factor receptor-associated periodic syndrome (TRAPS). ( 21547145 )
2010
42
[Molecular diagnostics of hereditary fever syndromes. Familial Mediterranean fever (FMF), hyperimmunoglobulin D syndrome (HIDS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS: FCAS, MWS, NOMID/CINCA)]. ( 19830438 )
2009
43
Tumor necrosis factor receptor-associated periodic syndrome: toward a molecular understanding of the systemic autoinflammatory diseases. ( 19116899 )
2009
44
Idiopathic recurrent pericarditis refractory to colchicine treatment can reveal tumor necrosis factor receptor-associated periodic syndrome. ( 20074469 )
2009
45
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. ( 19116900 )
2009
46
Proinflammatory action of the antiinflammatory drug infliximab in tumor necrosis factor receptor-associated periodic syndrome. ( 19180495 )
2009
47
Cell surface expression of TNFRI in tumor necrosis factor receptor-associated periodic syndrome: comment on the article by Nedjai et al. ( 18576329 )
2008
48
Abnormal tumor necrosis factor receptor I cell surface expression and NF-kappaB activation in tumor necrosis factor receptor-associated periodic syndrome. ( 18163488 )
2008
49
[Tumor necrosis factor receptor-associated periodic syndrome]. ( 18341881 )
2008
50
First report of rapidly progressive glomerulonephritis in tumor necrosis factor receptor-associated periodic syndrome. ( 18821681 )
2008

Variations for Periodic Fever, Familial, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Periodic Fever, Familial, Autosomal Dominant:

75 (show all 13)
# Symbol AA change Variation ID SNP ID
1 TNFRSF1A p.Cys59Arg VAR_013410 rs104895217
2 TNFRSF1A p.Cys62Tyr VAR_013411 rs104895218
3 TNFRSF1A p.Thr79Met VAR_013412 rs104895219
4 TNFRSF1A p.Cys81Phe VAR_013413 rs104895220
5 TNFRSF1A p.Cys117Arg VAR_013414 rs104895221
6 TNFRSF1A p.Cys117Tyr VAR_013415 rs104895222
7 TNFRSF1A p.Cys59Ser VAR_019302 rs104895223
8 TNFRSF1A p.Cys62Gly VAR_019303 rs104895225
9 TNFRSF1A p.Cys99Ser VAR_019304 rs104895228
10 TNFRSF1A p.Arg121Pro VAR_019305 rs4149584
11 TNFRSF1A p.His51Gln VAR_019329 rs104895254
12 TNFRSF1A p.Pro75Leu VAR_019330 rs4149637
13 TNFRSF1A p.Ser115Gly VAR_019331

ClinVar genetic disease variations for Periodic Fever, Familial, Autosomal Dominant:

6 (show top 50) (show all 264)
# Gene Variation Type Significance SNP ID Assembly Location
1 TNFRSF1A NM_001065.3(TNFRSF1A): c.185G> A (p.Cys62Tyr) single nucleotide variant Pathogenic rs104895218 GRCh37 Chromosome 12, 6443265: 6443265
2 TNFRSF1A NM_001065.3(TNFRSF1A): c.185G> A (p.Cys62Tyr) single nucleotide variant Pathogenic rs104895218 GRCh38 Chromosome 12, 6334099: 6334099
3 TNFRSF1A NM_001065.3(TNFRSF1A): c.236C> T (p.Thr79Met) single nucleotide variant Pathogenic rs104895219 GRCh37 Chromosome 12, 6442989: 6442989
4 TNFRSF1A NM_001065.3(TNFRSF1A): c.236C> T (p.Thr79Met) single nucleotide variant Pathogenic rs104895219 GRCh38 Chromosome 12, 6333823: 6333823
5 TNFRSF1A NM_001065.3(TNFRSF1A): c.175T> C (p.Cys59Arg) single nucleotide variant Pathogenic rs104895217 GRCh37 Chromosome 12, 6443275: 6443275
6 TNFRSF1A NM_001065.3(TNFRSF1A): c.175T> C (p.Cys59Arg) single nucleotide variant Pathogenic rs104895217 GRCh38 Chromosome 12, 6334109: 6334109
7 TNFRSF1A NM_001065.3(TNFRSF1A): c.242G> T (p.Cys81Phe) single nucleotide variant Pathogenic rs104895220 GRCh37 Chromosome 12, 6442983: 6442983
8 TNFRSF1A NM_001065.3(TNFRSF1A): c.242G> T (p.Cys81Phe) single nucleotide variant Pathogenic rs104895220 GRCh38 Chromosome 12, 6333817: 6333817
9 TNFRSF1A NM_001065.3(TNFRSF1A): c.349T> C (p.Cys117Arg) single nucleotide variant Pathogenic rs104895221 GRCh37 Chromosome 12, 6442656: 6442656
10 TNFRSF1A NM_001065.3(TNFRSF1A): c.349T> C (p.Cys117Arg) single nucleotide variant Pathogenic rs104895221 GRCh38 Chromosome 12, 6333490: 6333490
11 TNFRSF1A NM_001065.3(TNFRSF1A): c.350G> A (p.Cys117Tyr) single nucleotide variant Pathogenic rs104895222 GRCh37 Chromosome 12, 6442655: 6442655
12 TNFRSF1A NM_001065.3(TNFRSF1A): c.350G> A (p.Cys117Tyr) single nucleotide variant Pathogenic rs104895222 GRCh38 Chromosome 12, 6333489: 6333489
13 TNFRSF1A NM_001065.3(TNFRSF1A): c.362G> C (p.Arg121Pro) single nucleotide variant Pathogenic rs4149584 GRCh37 Chromosome 12, 6442643: 6442643
14 TNFRSF1A NM_001065.3(TNFRSF1A): c.362G> C (p.Arg121Pro) single nucleotide variant Pathogenic rs4149584 GRCh38 Chromosome 12, 6333477: 6333477
15 TNFRSF1A NM_001065.3(TNFRSF1A): c.176G> C (p.Cys59Ser) single nucleotide variant Pathogenic rs104895223 GRCh37 Chromosome 12, 6443274: 6443274
16 TNFRSF1A NM_001065.3(TNFRSF1A): c.176G> C (p.Cys59Ser) single nucleotide variant Pathogenic rs104895223 GRCh38 Chromosome 12, 6334108: 6334108
17 TNFRSF1A NM_001065.3(TNFRSF1A): c.184T> G (p.Cys62Gly) single nucleotide variant Likely pathogenic rs104895225 GRCh37 Chromosome 12, 6443266: 6443266
18 TNFRSF1A NM_001065.3(TNFRSF1A): c.184T> G (p.Cys62Gly) single nucleotide variant Likely pathogenic rs104895225 GRCh38 Chromosome 12, 6334100: 6334100
19 TNFRSF1A TNFRSF1A, 3-BP DEL, NT211 deletion Pathogenic
20 TNFRSF1A NM_001065.3(TNFRSF1A): c.295T> A (p.Cys99Ser) single nucleotide variant Pathogenic rs104895228 GRCh37 Chromosome 12, 6442930: 6442930
21 TNFRSF1A NM_001065.3(TNFRSF1A): c.295T> A (p.Cys99Ser) single nucleotide variant Pathogenic rs104895228 GRCh38 Chromosome 12, 6333764: 6333764
22 TNFRSF1A TNFRSF1A, CYS55ALA undetermined variant Pathogenic
23 TNFRSF1A NM_001065.3(TNFRSF1A): c.625+10A> G single nucleotide variant risk factor rs1800693 GRCh37 Chromosome 12, 6440009: 6440009
24 TNFRSF1A NM_001065.3(TNFRSF1A): c.625+10A> G single nucleotide variant risk factor rs1800693 GRCh38 Chromosome 12, 6330843: 6330843
25 TNFRSF1A NM_001065.3(TNFRSF1A): c.-281-278G> A single nucleotide variant not provided rs151344625 GRCh37 Chromosome 12, 6451539: 6451539
26 TNFRSF1A NM_001065.3(TNFRSF1A): c.-281-278G> A single nucleotide variant not provided rs151344625 GRCh38 Chromosome 12, 6342373: 6342373
27 TNFRSF1A NM_001065.3(TNFRSF1A): c.1075C> T (p.Leu359=) single nucleotide variant Benign rs151344628 GRCh37 Chromosome 12, 6438771: 6438771
28 TNFRSF1A NM_001065.3(TNFRSF1A): c.1075C> T (p.Leu359=) single nucleotide variant Benign rs151344628 GRCh38 Chromosome 12, 6329605: 6329605
29 TNFRSF1A NM_001065.3(TNFRSF1A): c.39+97G> A single nucleotide variant not provided rs151344626 GRCh37 Chromosome 12, 6450845: 6450845
30 TNFRSF1A NM_001065.3(TNFRSF1A): c.39+97G> A single nucleotide variant not provided rs151344626 GRCh38 Chromosome 12, 6341679: 6341679
31 TNFRSF1A NM_001065.3(TNFRSF1A): c.40-981C> T single nucleotide variant not provided rs151344627 GRCh37 Chromosome 12, 6444391: 6444391
32 TNFRSF1A NM_001065.3(TNFRSF1A): c.40-981C> T single nucleotide variant not provided rs151344627 GRCh38 Chromosome 12, 6335225: 6335225
33 TNFRSF1A NM_001065.3(TNFRSF1A): c.1080C> G (p.Tyr360Ter) single nucleotide variant not provided rs104895291 GRCh37 Chromosome 12, 6438766: 6438766
34 TNFRSF1A NM_001065.3(TNFRSF1A): c.1080C> G (p.Tyr360Ter) single nucleotide variant not provided rs104895291 GRCh38 Chromosome 12, 6329600: 6329600
35 TNFRSF1A NM_001065.3(TNFRSF1A): c.123T> G (p.Asp41Glu) single nucleotide variant Likely pathogenic rs104895271 GRCh37 Chromosome 12, 6443327: 6443327
36 TNFRSF1A NM_001065.3(TNFRSF1A): c.123T> G (p.Asp41Glu) single nucleotide variant Likely pathogenic rs104895271 GRCh38 Chromosome 12, 6334161: 6334161
37 TNFRSF1A NM_001065.3(TNFRSF1A): c.145T> C (p.Tyr49His) single nucleotide variant not provided rs104895237 GRCh37 Chromosome 12, 6443305: 6443305
38 TNFRSF1A NM_001065.3(TNFRSF1A): c.145T> C (p.Tyr49His) single nucleotide variant not provided rs104895237 GRCh38 Chromosome 12, 6334139: 6334139
39 TNFRSF1A NM_001065.3(TNFRSF1A): c.145T> G (p.Tyr49Asp) single nucleotide variant not provided rs104895237 GRCh37 Chromosome 12, 6443305: 6443305
40 TNFRSF1A NM_001065.3(TNFRSF1A): c.145T> G (p.Tyr49Asp) single nucleotide variant not provided rs104895237 GRCh38 Chromosome 12, 6334139: 6334139
41 TNFRSF1A NM_001065.3(TNFRSF1A): c.151C> T (p.His51Tyr) single nucleotide variant not provided rs104895227 GRCh37 Chromosome 12, 6443299: 6443299
42 TNFRSF1A NM_001065.3(TNFRSF1A): c.151C> T (p.His51Tyr) single nucleotide variant not provided rs104895227 GRCh38 Chromosome 12, 6334133: 6334133
43 TNFRSF1A NM_001065.3(TNFRSF1A): c.152A> G (p.His51Arg) single nucleotide variant not provided rs104895289 GRCh37 Chromosome 12, 6443298: 6443298
44 TNFRSF1A NM_001065.3(TNFRSF1A): c.152A> G (p.His51Arg) single nucleotide variant not provided rs104895289 GRCh38 Chromosome 12, 6334132: 6334132
45 TNFRSF1A NM_001065.3(TNFRSF1A): c.153C> G (p.His51Gln) single nucleotide variant not provided rs104895254 GRCh37 Chromosome 12, 6443297: 6443297
46 TNFRSF1A NM_001065.3(TNFRSF1A): c.153C> G (p.His51Gln) single nucleotide variant not provided rs104895254 GRCh38 Chromosome 12, 6334131: 6334131
47 TNFRSF1A NM_001065.3(TNFRSF1A): c.168G> A (p.Ser56=) single nucleotide variant Likely benign rs104895280 GRCh37 Chromosome 12, 6443282: 6443282
48 TNFRSF1A NM_001065.3(TNFRSF1A): c.168G> A (p.Ser56=) single nucleotide variant Likely benign rs104895280 GRCh38 Chromosome 12, 6334116: 6334116
49 TNFRSF1A NM_001065.3(TNFRSF1A): c.173G> A (p.Cys58Tyr) single nucleotide variant not provided rs104895230 GRCh37 Chromosome 12, 6443277: 6443277
50 TNFRSF1A NM_001065.3(TNFRSF1A): c.173G> A (p.Cys58Tyr) single nucleotide variant not provided rs104895230 GRCh38 Chromosome 12, 6334111: 6334111

Expression for Periodic Fever, Familial, Autosomal Dominant

Search GEO for disease gene expression data for Periodic Fever, Familial, Autosomal Dominant.

Pathways for Periodic Fever, Familial, Autosomal Dominant

Pathways related to Periodic Fever, Familial, Autosomal Dominant according to KEGG:

37
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Cytokine-cytokine receptor interaction hsa04060
3 Apoptosis hsa04210

Pathways related to Periodic Fever, Familial, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.69 MEFV NLRP3 TNF TNFRSF1A
2
Show member pathways
12.35 TNF TNFRSF1A TNFRSF1B
3
Show member pathways
12.22 TNF TNFRSF1A TNFRSF1B
4 12.22 TNF TNFRSF1A TNFRSF1B TPT1
5
Show member pathways
12.21 TNF TNFRSF1A TNFRSF1B
6
Show member pathways
12.03 TNF TNFRSF1A TNFRSF1B
7 11.94 TNF TNFRSF1A TNFRSF1B
8
Show member pathways
11.89 NLRP3 TNF TNFRSF1A
9
Show member pathways
11.69 TNF TNFRSF1A TNFRSF1B
10 11.65 TNF TNFRSF1A TNFRSF1B
11 11.44 TNF TNFRSF1A
12
Show member pathways
11.41 TNF TNFRSF1A
13
Show member pathways
11.41 TNF TNFRSF1A TNFRSF1B
14 11.34 TNF TNFRSF1A TNFRSF1B
15 11.31 TNF TNFRSF1A
16 11.24 TNF TNFRSF1A
17 11.23 TNF TNFRSF1A
18 11.18 MEFV NLRP3
19 11.17 TNF TNFRSF1A TNFRSF1B
20 11.08 TNFRSF1A TNFRSF1B
21
Show member pathways
11.03 TNF TNFRSF1A TNFRSF1B
22 11.02 TNFRSF1A TNFRSF1B
23 10.87 TNF TNFRSF1A
24 10.82 TNF TNFRSF1A TNFRSF1B
25 10.3 TNF TNFRSF1A TNFRSF1B

GO Terms for Periodic Fever, Familial, Autosomal Dominant

Cellular components related to Periodic Fever, Familial, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 9.13 TNF TNFRSF1A TNFRSF1B
2 tumor necrosis factor receptor superfamily complex GO:0002947 8.62 TNFRSF1A TNFRSF1B

Biological processes related to Periodic Fever, Familial, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.77 TNF TNFRSF1A TNFRSF1B
2 defense response to bacterium GO:0042742 9.76 LYZ TNF TNFRSF1A
3 cellular response to lipopolysaccharide GO:0071222 9.72 NLRP3 TNF TNFRSF1B
4 defense response GO:0006952 9.7 NLRP3 TNF TNFRSF1A
5 defense response to Gram-positive bacterium GO:0050830 9.67 LYZ NLRP3 TNF
6 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.61 TNF TNFRSF1A
7 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.61 NLRP3 TNF
8 tumor necrosis factor-mediated signaling pathway GO:0033209 9.61 TNF TNFRSF1A TNFRSF1B
9 extrinsic apoptotic signaling pathway GO:0097191 9.6 TNF TNFRSF1B
10 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.58 TNF TNFRSF1A
11 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.57 TNF TNFRSF1A
12 negative regulation of cardiac muscle hypertrophy GO:0010614 9.56 TNFRSF1A TNFRSF1B
13 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.54 TNF TNFRSF1B
14 positive regulation of ceramide biosynthetic process GO:2000304 9.51 TNF TNFRSF1A
15 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.5 TNF TNFRSF1A TNFRSF1B
16 death-inducing signaling complex assembly GO:0071550 9.48 TNF TNFRSF1A
17 regulation of establishment of endothelial barrier GO:1903140 9.46 TNF TNFRSF1A
18 inflammatory response GO:0006954 9.43 LYZ MEFV NLRP3 TNF TNFRSF1A TNFRSF1B
19 aortic valve development GO:0003176 9.4 TNFRSF1A TNFRSF1B
20 negative regulation of extracellular matrix constituent secretion GO:0003332 9.37 TNFRSF1A TNFRSF1B
21 positive regulation of apoptotic process involved in morphogenesis GO:1902339 9.26 TNFRSF1A TNFRSF1B
22 pulmonary valve development GO:0003177 9.16 TNFRSF1A TNFRSF1B
23 negative regulation of inflammatory response GO:0050728 9.02 MEFV MVK NLRP3 TNFRSF1A TNFRSF1B

Molecular functions related to Periodic Fever, Familial, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.55 LYZ MEFV MVK NLRP3 TNF
2 tumor necrosis factor-activated receptor activity GO:0005031 8.96 TNFRSF1A TNFRSF1B
3 tumor necrosis factor binding GO:0043120 8.62 TNFRSF1A TNFRSF1B

Sources for Periodic Fever, Familial, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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