MCID: PRD013
MIFTS: 59

Periodic Fever, Familial, Autosomal Dominant

Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Blood diseases, Immune 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 brucellosis. 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. Affiliated tissues include skin, eye and bone, and related phenotypes are constipation and behavioral abnormality

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.

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.

Disease Ontology : 12 A characterized by autosomal dominant inheritance of 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.

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 95)
# Related Disease Score Top Affiliating Genes
1 hyper-igd syndrome 30.8 MVK TNFRSF1A
2 brucellosis 30.2 MEFV TNF
3 pericarditis 30.1 MEFV TNF TNFRSF1A
4 familial mediterranean fever 28.6 MEFV MVK NLRP3 TNF TNFRSF1A
5 amyloidosis 28.5 LYZ MEFV NLRP3 TNFRSF1A
6 triiodothyronine receptor auxiliary protein 11.2
7 thyroid dyshormonogenesis 1 11.1
8 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.0
9 epidermoid brain cyst 11.0
10 coronary artery dissection, spontaneous 10.8
11 duodenal atresia 10.8
12 hepatic fibrosis, severe due to schistosoma mansoni infection 10.8
13 dehydrated hereditary stomatocytosis 2 10.8
14 gas gangrene 10.8
15 tonsillitis 10.8
16 fox-fordyce disease 10.8
17 paraphimosis 10.8
18 nerve compression syndrome 10.8
19 priapism 10.8
20 catamenial pneumothorax 10.8
21 inflammatory myopathy with abundant macrophages 10.6 MEFV TNFRSF1A
22 intermittent hydrarthrosis 10.6 MEFV TNFRSF1A
23 idiopathic recurrent pericarditis 10.5 MEFV TNFRSF1A
24 retinitis pigmentosa 75 10.5 TNF TNFRSF1A
25 dystrophinopathies 10.4 TNF TNFRSF1A
26 systemic onset juvenile idiopathic arthritis 10.4 MEFV TNF
27 autoinflammation, panniculitis, and dermatosis syndrome 10.4 MEFV TNF
28 erysipelas 10.3 MEFV TNF
29 psoriatic juvenile idiopathic arthritis 10.3 MEFV NLRP3
30 mevalonic aciduria 10.3 MVK NLRP3
31 vulvar vestibulitis syndrome 10.2 NLRP3 TNF
32 conjunctival disease 10.2 NLRP3 TNFRSF1A
33 pericoronitis 10.2 TNFRSF1A TNFRSF1B
34 pyoderma 10.2 MEFV TNF
35 adult-onset still's disease 10.2 MEFV TNF
36 sciatic neuropathy 10.2 TNFRSF1A TNFRSF1B
37 mycobacterium abscessus 10.2 NLRP3 TNF
38 pleurisy 10.2 MEFV TNF
39 skin sarcoidosis 10.2 TNF TNFRSF1B
40 rheumatoid lung disease 10.1 TNF TNFRSF1B
41 scleral disease 10.1 TNF TNFRSF1B
42 pustulosis of palm and sole 10.1 TNF TNFRSF1B
43 aseptic meningitis 10.1 NLRP3 TNF
44 mumps 10.1 TNF TNFRSF1A
45 pericardial effusion 10.1 NLRP3 TNFRSF1A
46 peroneal neuropathy 10.1 TNF TNFRSF1B
47 sweat gland disease 10.1 TNF TNFRSF1B
48 type i 10.0
49 amyloidosis aa 10.0
50 cryopyrin-associated periodic syndrome 10.0

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
Head And Neck Eyes:
periorbital edema
conjunctival injection

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

Muscle Soft Tissue:
muscle stiffness
myalgias

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 macule 59 Very frequent (99-80%)
42 amyloidosis 32 HP:0011034
43 conjunctival hyperemia 32 HP:0030953
44 muscle stiffness 32 HP:0003552
45 hepatic amyloidosis 32 HP:0012280

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

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.02 TNF TNFRSF1A TNFRSF1B TPT1 LYZ MEFV
2 growth/size/body region MP:0005378 9.98 LYZ MEFV NLRP3 TNF TNFRSF1A TNFRSF1B
3 hematopoietic system MP:0005397 9.88 LYZ MEFV NLRP3 TNF TNFRSF1A TNFRSF1B
4 digestive/alimentary MP:0005381 9.85 LYZ NLRP3 TNF TNFRSF1A TNFRSF1B
5 immune system MP:0005387 9.85 LYZ MEFV NLRP3 TNF TNFRSF1A TNFRSF1B
6 adipose tissue MP:0005375 9.8 LYZ TNF TNFRSF1A TNFRSF1B
7 integument MP:0010771 9.8 LYZ MEFV NLRP3 TNF TNFRSF1A TNFRSF1B
8 liver/biliary system MP:0005370 9.73 LYZ MEFV NLRP3 TNF TNFRSF1A TNFRSF1B
9 mortality/aging MP:0010768 9.7 TPT1 LYZ MEFV NLRP3 TNF TNFRSF1A
10 neoplasm MP:0002006 9.26 LYZ TNF TNFRSF1A TNFRSF1B
11 skeleton MP:0005390 9.1 LYZ MEFV NLRP3 TNF TNFRSF1A TNFRSF1B

Drugs & Therapeutics for Periodic Fever, Familial, Autosomal Dominant

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy and Safety Study of ACZ885 in Patients With Active Recurrent or Chronic TNF-receptor Associated Periodic Syndrome (TRAPS). Completed NCT01242813 Phase 2 ACZ885
2 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, Bone, Endothelial, Monocytes

Publications for Periodic Fever, Familial, Autosomal Dominant

Articles related to Periodic Fever, Familial, Autosomal Dominant:

(show all 50)
# Title Authors Year
1
Novel mutation identified in severe early-onset tumor necrosis factor receptor-associated periodic syndrome: a case report. ( 28427379 )
2017
2
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
3
Key facts and hot spots on tumor necrosis factor receptor-associated periodic syndrome. ( 24935411 )
2014
4
Tumor necrosis factor receptor-associated periodic syndrome as a model linking autophagy and inflammation in protein aggregation diseases. ( 24706103 )
2014
5
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
6
Serum leptin, resistin, visfatin and adiponectin levels in tumor necrosis factor receptor-associated periodic syndrome (TRAPS). ( 22935190 )
2012
7
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
8
Candidate genes in patients with autoinflammatory syndrome resembling tumor necrosis factor receptor-associated periodic syndrome without mutations in the TNFRSF1A gene. ( 21459945 )
2011
9
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
10
A novel mutation in TNFRSF1A associated with overlapping features of tumor necrosis factor receptor-associated periodic syndrome and hyper-IgD syndrome. ( 20346247 )
2010
11
Sacroileitis and pericarditis: atypical presentation of tumor necrosis factor receptor-associated periodic syndrome and response to etanercept therapy. ( 20483057 )
2010
12
Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site. ( 20169391 )
2010
13
[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
14
Tumor necrosis factor receptor-associated periodic syndrome: toward a molecular understanding of the systemic autoinflammatory diseases. ( 19116899 )
2009
15
Idiopathic recurrent pericarditis refractory to colchicine treatment can reveal tumor necrosis factor receptor-associated periodic syndrome. ( 20074469 )
2009
16
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
17
Proinflammatory action of the antiinflammatory drug infliximab in tumor necrosis factor receptor-associated periodic syndrome. ( 19180495 )
2009
18
Cell surface expression of TNFRI in tumor necrosis factor receptor-associated periodic syndrome: comment on the article by Nedjai et al. ( 18576329 )
2008
19
Abnormal tumor necrosis factor receptor I cell surface expression and NF-kappaB activation in tumor necrosis factor receptor-associated periodic syndrome. ( 18163488 )
2008
20
[Tumor necrosis factor receptor-associated periodic syndrome]. ( 18341881 )
2008
21
First report of rapidly progressive glomerulonephritis in tumor necrosis factor receptor-associated periodic syndrome. ( 18821681 )
2008
22
[First manifestation of psoriasis vulgaris in tumor necrosis factor receptor-associated periodic syndrome during treatment with etanercept]. ( 18210001 )
2008
23
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) or familial Hibernian fever: presentation in a four-day-old infant. ( 18690165 )
2008
24
Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. ( 18438813 )
2008
25
Tumor necrosis factor receptor-associated periodic syndrome with a C30R mutation in a Japanese family. ( 17564788 )
2007
26
Mutant tumor necrosis factor receptor associated with tumor necrosis factor receptor-associated periodic syndrome is altered antigenically and is retained within patients' leukocytes. ( 17665435 )
2007
27
Elevated CD16 expression by monocytes from patients with tumor necrosis factor receptor-associated periodic syndrome. ( 18050249 )
2007
28
Late-onset tumor necrosis factor receptor-associated periodic syndrome in multiple sclerosis patients carrying the TNFRSF1A R92Q mutation. ( 17665448 )
2007
29
[Tumor necrosis factor receptor associated periodic syndrome (TRAPS). Report of two cases]. ( 17277873 )
2006
30
Tumor necrosis factor receptor-associated periodic syndrome mimicking systemic juvenile idiopathic arthritis. ( 17075277 )
2006
31
Modeling of tumor necrosis factor receptor superfamily 1A mutants associated with tumor necrosis factor receptor-associated periodic syndrome indicates misfolding consistent with abnormal function. ( 16871532 )
2006
32
Intestinal pseudo-obstruction as a manifestation of tumor necrosis factor receptor-associated periodic syndrome. ( 16865571 )
2006
33
Heterogeneity of tumor necrosis factor receptor-associated periodic syndrome: comment on the article by Siebert et al. ( 16142725 )
2005
34
Autosomal dominant periodic fever with AA amyloidosis: tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Turkish family. ( 16299693 )
2005
35
Adrenal and gonadal hormone variations during a febrile attack in a woman with tumor necrosis factor receptor-associated periodic syndrome. ( 16030167 )
2005
36
Tumor necrosis factor receptor-associated periodic syndrome in a young adult who had features of periodic fever, aphthous stomatitis, pharyngitis, and adenitis as a child. ( 15689926 )
2005
37
Tumor necrosis factor receptor I from patients with tumor necrosis factor receptor-associated periodic syndrome interacts with wild-type tumor necrosis factor receptor I and induces ligand-independent NF-kappaB activation. ( 16142754 )
2005
38
Two familial cases with tumor necrosis factor receptor-associated periodic syndrome caused by a non-cysteine mutation (T50M) in the TNFRSF1A gene associated with severe multiorganic amyloidosis. ( 15570662 )
2004
39
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): definition, semiology, prognosis, pathogenesis, treatment, and place relative to other periodic joint diseases. ( 15288852 )
2004
40
Novel mutations in TNFRSF1A in patients with typical tumor necrosis factor receptor-associated periodic syndrome and with systemic lupus erythematosus in Japanese. ( 15492850 )
2004
41
Shedding of mutant tumor necrosis factor receptor superfamily 1A associated with tumor necrosis factor receptor-associated periodic syndrome: differences between cell types. ( 15334481 )
2004
42
Tumor necrosis factor receptor-associated periodic syndrome characterized by a mutation affecting the cleavage site of the receptor: implications for pathogenesis. ( 12905494 )
2003
43
Emerging clinical spectrum of tumor necrosis factor receptor-associated periodic syndrome: comment on the articles by Hull et al and DodAc et al. ( 12794852 )
2003
44
Heterogeneity among patients with tumor necrosis factor receptor- associated periodic syndrome phenotypes. ( 13130484 )
2003
45
The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. ( 12209523 )
2002
46
An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome. ( 11817598 )
2002
47
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance. ( 11175303 )
2001
48
The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. ( 11443543 )
2001
49
Treatment of the nephrotic syndrome with etanercept in patients with the tumor necrosis factor receptor-associated periodic syndrome. ( 11023397 )
2000
50
Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations. ( 11115159 )
2000

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 104)
# 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.123T> G (p.Asp41Glu) single nucleotide variant Likely pathogenic rs104895271 GRCh37 Chromosome 12, 6443327: 6443327
26 TNFRSF1A NM_001065.3(TNFRSF1A): c.123T> G (p.Asp41Glu) single nucleotide variant Likely pathogenic rs104895271 GRCh38 Chromosome 12, 6334161: 6334161
27 TNFRSF1A NM_001065.3(TNFRSF1A): c.250T> C (p.Cys84Arg) single nucleotide variant Likely pathogenic rs104895253 GRCh37 Chromosome 12, 6442975: 6442975
28 TNFRSF1A NM_001065.3(TNFRSF1A): c.250T> C (p.Cys84Arg) single nucleotide variant Likely pathogenic rs104895253 GRCh38 Chromosome 12, 6333809: 6333809
29 TNFRSF1A NM_001065.3(TNFRSF1A): c.265T> C (p.Phe89Leu) single nucleotide variant Likely pathogenic rs104895245 GRCh37 Chromosome 12, 6442960: 6442960
30 TNFRSF1A NM_001065.3(TNFRSF1A): c.265T> C (p.Phe89Leu) single nucleotide variant Likely pathogenic rs104895245 GRCh38 Chromosome 12, 6333794: 6333794
31 TNFRSF1A NM_001065.3(TNFRSF1A): c.295T> C (p.Cys99Arg) single nucleotide variant Pathogenic rs104895228 GRCh37 Chromosome 12, 6442930: 6442930
32 TNFRSF1A NM_001065.3(TNFRSF1A): c.295T> C (p.Cys99Arg) single nucleotide variant Pathogenic rs104895228 GRCh38 Chromosome 12, 6333764: 6333764
33 TNFRSF1A NM_001065.3(TNFRSF1A): c.362G> A (p.Arg121Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs4149584 GRCh37 Chromosome 12, 6442643: 6442643
34 TNFRSF1A NM_001065.3(TNFRSF1A): c.362G> A (p.Arg121Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs4149584 GRCh38 Chromosome 12, 6333477: 6333477
35 TNFRSF1A NM_001065.3(TNFRSF1A): c.987C> T (p.Leu329=) single nucleotide variant Benign rs138261783 GRCh37 Chromosome 12, 6439014: 6439014
36 TNFRSF1A NM_001065.3(TNFRSF1A): c.987C> T (p.Leu329=) single nucleotide variant Benign rs138261783 GRCh38 Chromosome 12, 6329848: 6329848
37 TNFRSF1A NM_001065.3(TNFRSF1A): c.224C> T (p.Pro75Leu) single nucleotide variant Benign/Likely benign rs4149637 GRCh37 Chromosome 12, 6443001: 6443001
38 TNFRSF1A NM_001065.3(TNFRSF1A): c.224C> T (p.Pro75Leu) single nucleotide variant Benign/Likely benign rs4149637 GRCh38 Chromosome 12, 6333835: 6333835
39 TNFRSF1A NM_001065.3(TNFRSF1A): c.740-9T> C single nucleotide variant Benign/Likely benign rs12426675 GRCh37 Chromosome 12, 6439470: 6439470
40 TNFRSF1A NM_001065.3(TNFRSF1A): c.740-9T> C single nucleotide variant Benign/Likely benign rs12426675 GRCh38 Chromosome 12, 6330304: 6330304
41 TNFRSF1A NM_001065.3(TNFRSF1A): c.36A> G (p.Pro12=) single nucleotide variant Benign/Likely benign rs767455 GRCh38 Chromosome 12, 6341779: 6341779
42 TNFRSF1A NM_001065.3(TNFRSF1A): c.36A> G (p.Pro12=) single nucleotide variant Benign/Likely benign rs767455 GRCh37 Chromosome 12, 6450945: 6450945
43 TNFRSF1A NM_001065.3(TNFRSF1A): c.*387A> G single nucleotide variant Likely benign rs115682467 GRCh38 Chromosome 12, 6328925: 6328925
44 TNFRSF1A NM_001065.3(TNFRSF1A): c.*387A> G single nucleotide variant Likely benign rs115682467 GRCh37 Chromosome 12, 6438091: 6438091
45 TNFRSF1A NM_001065.3(TNFRSF1A): c.*178C> T single nucleotide variant Uncertain significance rs186356476 GRCh38 Chromosome 12, 6329134: 6329134
46 TNFRSF1A NM_001065.3(TNFRSF1A): c.*178C> T single nucleotide variant Uncertain significance rs186356476 GRCh37 Chromosome 12, 6438300: 6438300
47 TNFRSF1A NM_001065.3(TNFRSF1A): c.*148C> T single nucleotide variant Uncertain significance rs543718521 GRCh38 Chromosome 12, 6329164: 6329164
48 TNFRSF1A NM_001065.3(TNFRSF1A): c.*148C> T single nucleotide variant Uncertain significance rs543718521 GRCh37 Chromosome 12, 6438330: 6438330
49 TNFRSF1A NM_001065.3(TNFRSF1A): c.1356T> A (p.Ser452Arg) single nucleotide variant Uncertain significance rs886049750 GRCh38 Chromosome 12, 6329324: 6329324
50 TNFRSF1A NM_001065.3(TNFRSF1A): c.1356T> A (p.Ser452Arg) single nucleotide variant Uncertain significance rs886049750 GRCh37 Chromosome 12, 6438490: 6438490

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 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 MEFV NLRP3 TNF TNFRSF1A
2
Show member pathways
12.39 TNF TNFRSF1A TNFRSF1B
3
Show member pathways
12.23 TNF TNFRSF1A TNFRSF1B
4
Show member pathways
12.22 TNF TNFRSF1A TNFRSF1B
5 12.22 TNF TNFRSF1A TNFRSF1B TPT1
6
Show member pathways
12.18 TNF TNFRSF1A TNFRSF1B
7
Show member pathways
12.04 TNF TNFRSF1A TNFRSF1B
8 11.95 TNF TNFRSF1A TNFRSF1B
9
Show member pathways
11.91 NLRP3 TNF TNFRSF1A
10
Show member pathways
11.69 TNF TNFRSF1A TNFRSF1B
11 11.64 TNF TNFRSF1A TNFRSF1B
12 11.45 TNF TNFRSF1A
13
Show member pathways
11.42 TNF TNFRSF1A
14
Show member pathways
11.41 TNF TNFRSF1A TNFRSF1B
15 11.34 TNF TNFRSF1A TNFRSF1B
16 11.32 TNF TNFRSF1A
17 11.25 TNF TNFRSF1A
18 11.24 TNF TNFRSF1A
19 11.19 MEFV NLRP3
20 11.17 TNF TNFRSF1A TNFRSF1B
21 11.09 TNFRSF1A TNFRSF1B
22
Show member pathways
11.03 TNF TNFRSF1A TNFRSF1B
23 11.02 TNFRSF1A TNFRSF1B
24 10.89 TNF TNFRSF1A
25 10.82 TNF TNFRSF1A TNFRSF1B
26 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 8.8 TNF TNFRSF1A TNFRSF1B

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 regulation of apoptotic process GO:0042981 9.77 TNFRSF1A TNFRSF1B TPT1
2 cytokine-mediated signaling pathway GO:0019221 9.77 TNF TNFRSF1A TNFRSF1B
3 regulation of cell proliferation GO:0042127 9.74 TNF TNFRSF1A TNFRSF1B
4 defense response to bacterium GO:0042742 9.7 LYZ TNF TNFRSF1A
5 defense response GO:0006952 9.69 NLRP3 TNF TNFRSF1A
6 cellular response to lipopolysaccharide GO:0071222 9.65 NLRP3 TNF TNFRSF1B
7 tumor necrosis factor-mediated signaling pathway GO:0033209 9.63 TNF TNFRSF1A TNFRSF1B
8 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.61 TNF TNFRSF1A
9 defense response to Gram-positive bacterium GO:0050830 9.61 LYZ NLRP3 TNF
10 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.58 NLRP3 TNF
11 extrinsic apoptotic signaling pathway GO:0097191 9.58 TNF TNFRSF1B
12 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.56 NLRP3 TNF
13 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.55 TNF TNFRSF1A
14 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.54 TNF TNFRSF1A
15 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.49 TNF TNFRSF1B
16 apoptotic signaling pathway GO:0097190 9.43 TNF TNFRSF1A TNFRSF1B
17 inflammatory response GO:0006954 9.43 LYZ MEFV NLRP3 TNF TNFRSF1A TNFRSF1B
18 positive regulation of ceramide biosynthetic process GO:2000304 9.4 TNF TNFRSF1A
19 death-inducing signaling complex assembly GO:0071550 9.37 TNF TNFRSF1A
20 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.33 TNF TNFRSF1A TNFRSF1B
21 regulation of establishment of endothelial barrier GO:1903140 9.32 TNF TNFRSF1A
22 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 9.1 LYZ MEFV MVK NLRP3 TNF TNFRSF1A
2 tumor necrosis factor-activated receptor activity GO:0005031 8.96 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
Content
Loading form....