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FPF
MCID: PRD013
MIFTS: 67

Periodic Fever, Familial, Autosomal Dominant (FPF)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Periodic Fever, Familial, Autosomal Dominant

About this section

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

Name: Periodic Fever, Familial, Autosomal Dominant 56 52
Tumor Necrosis Factor Receptor-Associated Periodic Syndrome 56 52 25 73 36 54
Familial Hibernian Fever 56 12 52 25 58 73
Tnf Receptor-Associated Periodic Fever Syndrome 52 25 29 6 39
Traps 56 74 52 25 73
Autosomal Dominant Familial Periodic Fever 12 25 15
Tnf Receptor-Associated Periodic Syndrome 56 52 73
Hibernian Fever, Familial 56 74 52
Fpf 56 52 25
Fhf 56 52 73
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome 12 58
Tnf Receptor 1-Associated Periodic Syndrome 12 58
Periodic Fever, Familial 56 13
Tumor Necrosis Factor Receptor-Associated Periodic Syndrome; Traps 56
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome 71
Familial Periodic Fever Autosomal Dominant 73
Tnf Receptor Associated Periodic Syndrome 74
Hibernian Fever, Familial; Fhf 56
Familial Periodic Fever 6
Caledonian Fever 73
Traps Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:

31
periodic fever, familial, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Bone diseases Skin diseases Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases
Rare immunological diseases


Sources

Summaries for Periodic Fever, Familial, Autosomal Dominant

About this section
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. During episodes of fever, people with TRAPS can have additional signs and symptoms. These include abdominal and muscle pain and a spreading skin rash, typically found on the limbs. Affected individuals may also experience puffiness or swelling in the skin around the eyes (periorbital edema); joint pain; and inflammation in various areas of the body including the eyes, heart muscle, certain joints, throat, or mucous membranes such as the moist lining of the mouth and digestive tract. Occasionally, people with TRAPS develop amyloidosis, an abnormal buildup of a protein called amyloid in the kidneys that can lead to kidney failure. It is estimated that 15 to 20 percent of people with TRAPS develop amyloidosis, typically in mid-adulthood. The fever episodes characteristic of TRAPS can begin at any age, from infancy to late adulthood, but most people have their first episode in childhood.

MalaCards based summary : Periodic Fever, Familial, Autosomal Dominant, also known as tumor necrosis factor receptor-associated periodic syndrome, is related to brucellosis and vasculitis. 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 Neostigmine and Permethrin have been mentioned in the context of this disorder. Affiliated tissues include skin, neutrophil and eye, and related phenotypes are skin rash and pericarditis

Disease Ontology : 12 A primary immunodeficiency 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.

NIH Rare Diseases : 52 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.

OMIM : 56 Familial periodic fever (FPF) is an autoinflammatory disorder characterized by recurrent fever with localized myalgia and painful erythema. Febrile attacks may last 1 or 2 days but often last longer than 1 week. Arthralgia of large joints, abdominal pain, conjunctivitis, and periorbital edema are common features. During attacks, painless cutaneous lesions may develop on the trunk or extremities and may migrate distally (review by Drenth and van der Meer, 2001). (142680)

KEGG : 36 The tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a multisystem auto-inflammatory disorder that is inherited in an autosomal dominant manner. It is characterized by recurrent febrile attacks and localized inflammation in the absence of autoantibodies. Recurrent fever, abdominal pain, myalgia, and arthralgia are the most common manifestations of TRAPS.

UniProtKB/Swiss-Prot : 73 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 : 74 TNF receptor associated periodic syndrome (TRAPS) is a periodic fever syndrome associated with mutations... more...

Sources

Related Diseases for Periodic Fever, Familial, Autosomal Dominant

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Diseases in the Hereditary Periodic Fever Syndrome family:

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 1347)
# Related Disease Score Top Affiliating Genes
1 brucellosis 31.3 TNF MEFV IL1RN
2 vasculitis 31.2 TNFRSF1B TNF MEFV ELANE
3 hyper-igd syndrome 31.2 TNFRSF1A MVK IL1RN
4 pleurisy 31.1 TNF MEFV IL1RN
5 cryopyrin-associated periodic syndrome 31.1 NLRP3 IL1RN
6 idiopathic recurrent pericarditis 31.0 TNFRSF1A MEFV
7 relapsing fever 31.0 TNFRSF1A TNF MVK MEFV
8 conjunctivitis 30.9 TNFRSF1A TNF NLRP3 NLRP12
9 fasciitis 30.9 TNF IL1RN H2AC18
10 wells syndrome 30.9 TNFRSF1A NLRP3 MEFV IL1B
11 systemic onset juvenile idiopathic arthritis 30.8 TNF IL1RN IL1B
12 hereditary periodic fever syndrome 30.8 TNFRSF1A TNF NLRP3 MEFV
13 arthropathy 30.8 TNF NLRP3 IL1RN IL1B
14 aphthous stomatitis 30.7 TNF NLRP3 MEFV IL1RN IL1B
15 stomatitis 30.7 TNF NLRP3 MEFV IL1RN IL1B
16 bone resorption disease 30.7 TNF IL1B H2AC18
17 mental depression 30.7 TNF IL1B H2AC18
18 acute cystitis 30.7 TNF IL1B H2AC18
19 toxic shock syndrome 30.7 TNFRSF1A TNF IL1RN IL1B
20 pericarditis 30.7 TNFRSF1A TNF MEFV IL1RN IL1B
21 periodontitis 30.7 TNF IL1RN IL1B ELANE
22 gout 30.7 TNF NLRP3 MEFV IL1B
23 peritonitis 30.7 TNF NLRP3 MEFV IL1B ELANE
24 pulmonary disease, chronic obstructive 30.7 TNF IL1B H2AC18 ELANE
25 pustulosis of palm and sole 30.7 TNFRSF1B TNF PSTPIP1 IL1RN
26 exanthem 30.6 TNFRSF1B TNF NLRP3 MVK MEFV IL1RN
27 amyloidosis 30.6 TNFRSF1A TNF NLRP3 MEFV IL1RN IL1B
28 otitis media 30.6 TNF IL1RN IL1B ELANE
29 bacterial infectious disease 30.5 TNF IL1RN IL1B H2AC18 ELANE
30 chronic granulomatous disease 30.5 TNF MT-CYB IL1B ELANE
31 juvenile rheumatoid arthritis 30.5 TNFRSF1B TNFRSF1A TNF IL1RN IL1B
32 familial mediterranean fever 30.5 TNFRSF1A TNF PSTPIP1 NLRP3 MVK MEFV
33 psoriatic arthritis 30.5 TNFRSF1B TNFRSF1A TNF IL1RN IL1B
34 respiratory failure 30.4 TNF IL1RN IL1B H2AC18 ELANE
35 bacterial pneumonia 30.4 TNF IL1B H2AC18 ELANE
36 kawasaki disease 30.4 TNF IL1B ELANE
37 skin disease 30.4 TNFRSF1B TNF SPINK5 IL1B H2AC18
38 pharyngitis 30.4 TNFRSF1B TNF NLRP3 MVK MEFV IL1RN
39 granulomatosis with polyangiitis 30.4 TNFRSF1B TNF SPINK5 ELANE
40 neutropenia 30.3 TNFRSF1A TNF IL1RN IL1B ELANE
41 synovitis 30.3 TNFRSF1A TNF IL1RN IL1B
42 necrotizing fasciitis 30.3 SPINK5 IL1RN IL1B H2AC18
43 acute pancreatitis 30.3 TNF IL1RN IL1B ELANE
44 mucocutaneous leishmaniasis 30.3 TNF MT-CYB H2AC18
45 aspergillosis 30.3 TNFRSF1B TNF IL1RN IL1B ELANE
46 chorioamnionitis 30.3 TNF IL1RN IL1B ELANE
47 keratitis, hereditary 30.3 TNF NLRP3 IL1B
48 proteasome-associated autoinflammatory syndrome 1 30.3 TNF NLRP3 MVK MEFV IL1RN IL1B
49 sarcoidosis 1 30.3 TNFRSF1B TNF IL1RN IL1B
50 dysentery 30.3 TNF IL1B H2AC18

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



Diseases related to Periodic Fever, Familial, Autosomal Dominant
Sources

Symptoms & Phenotypes for Periodic Fever, Familial, Autosomal Dominant

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

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skin rash 58 31 hallmark (90%) Very frequent (99-80%) HP:0000988
2 pericarditis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001701
3 abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002027
4 myalgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003326
5 diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002014
6 elevated c-reactive protein level 58 31 hallmark (90%) Very frequent (99-80%) HP:0011227
7 elevated erythrocyte sedimentation rate 58 31 hallmark (90%) Very frequent (99-80%) HP:0003565
8 erysipelas 58 31 hallmark (90%) Very frequent (99-80%) HP:0001055
9 recurrent fever 58 31 hallmark (90%) Very frequent (99-80%) HP:0001954
10 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
11 arthritis 58 31 frequent (33%) Frequent (79-30%) HP:0001369
12 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
13 erythema 58 31 frequent (33%) Frequent (79-30%) HP:0010783
14 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
15 intestinal obstruction 58 31 frequent (33%) Frequent (79-30%) HP:0005214
16 lymphadenopathy 58 31 frequent (33%) Frequent (79-30%) HP:0002716
17 pleuritis 58 31 frequent (33%) Frequent (79-30%) HP:0002102
18 orchitis 58 31 frequent (33%) Frequent (79-30%) HP:0100796
19 leukocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0001974
20 behavioral abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000708
21 cranial nerve paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006824
22 hypermelanotic macule 58 31 occasional (7.5%) Occasional (29-5%) HP:0001034
23 arthralgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002829
24 abnormal myocardium morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001637
25 myositis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100614
26 chest pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0100749
27 vertigo 58 31 occasional (7.5%) Occasional (29-5%) HP:0002321
28 uveitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000554
29 cellulitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100658
30 paresthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003401
31 periorbital edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0100539
32 migraine 58 31 occasional (7.5%) Occasional (29-5%) HP:0002076
33 recurrent pharyngitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100776
34 conjunctivitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000509
35 bruising susceptibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0000978
36 vasculitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002633
37 abnormality of the sacroiliac joint 58 31 occasional (7.5%) Occasional (29-5%) HP:0100781
38 fasciitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100537
39 peritonitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002586
40 edema 31 HP:0000969
41 macule 58 Very frequent (99-80%)
42 muscle stiffness 31 HP:0003552
43 amyloidosis 31 HP:0011034
44 conjunctival hyperemia 31 HP:0030953
45 hepatic amyloidosis 31 HP:0012280

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
muscle stiffness
myalgias

Abdomen Liver:
hepatic amyloidosis

Abdomen:
recurrent abdominal pains

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

Chest:
pleuritic pain

Skeletal:
arthralgias

Metabolic Features:
fever, periodic, recurrent

Clinical features from OMIM:

142680

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.07 ELANE IL1B IL1RN LAT2 MEFV NLRP12
2 immune system MP:0005387 9.97 ELANE IL1B IL1RN LAT2 MEFV NLRP12
3 integument MP:0010771 9.61 ELANE IL1B IL1RN MEFV NLRP3 SPINK5
4 mortality/aging MP:0010768 9.47 BLOC1S1 ELANE IL1B IL1RN LAT2 MEFV
Sources

Drugs & Therapeutics for Periodic Fever, Familial, Autosomal Dominant

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

(show top 50) (show all 197)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
2
Permethrin Approved, Investigational Phase 4 52645-53-1 40326
3
Nicotine Approved Phase 4 54-11-5 942 89594
4
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
5
Warfarin Approved Phase 4 81-81-2 6691 54678486
6
Enoxaparin Approved Phase 4 9005-49-6 772
7
Rivaroxaban Approved Phase 4 366789-02-8
8
Dalteparin Approved Phase 4 9005-49-6
9
Tinzaparin Approved Phase 4 9041-08-1, 9005-49-6 25244225
10
tannic acid Approved Phase 4 1401-55-4
11
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
12
Piperaquine Experimental, Investigational Phase 4 4085-31-8 5079497
13
Dihydroartemisinin Experimental, Investigational Phase 4 71939-50-9 6918483
14 Muscarinic Antagonists Phase 4
15 Anesthetics Phase 4
16 Cholinesterase Inhibitors Phase 4
17
Glycopyrrolate Phase 4 596-51-0 3494
18 Cholinergic Antagonists Phase 4
19 Anti-Infective Agents Phase 4
20 Antiparasitic Agents Phase 4
21 Antiprotozoal Agents Phase 4
22 Antimalarials Phase 4
23 Metadoxine Phase 4
24 Liver Extracts Phase 4
25 Neurotransmitter Agents Phase 4
26 Central Nervous System Stimulants Phase 4
27 Nicotinic Agonists Phase 4
28 Cholinergic Agents Phase 4
29 Tissue Plasminogen Activator Phase 4
30 Antithrombins Phase 4
31 Antithrombin III Phase 4
32 Serine Proteinase Inhibitors Phase 4
33
protease inhibitors Phase 4
34 Heparin, Low-Molecular-Weight Phase 4
35 Factor Xa Inhibitors Phase 4
36 HIV Protease Inhibitors Phase 4
37 calcium heparin Phase 4
38 Anticoagulants Phase 4
39
Serine Investigational, Nutraceutical Phase 4 56-45-1 5951
40
Colchicine Approved Phase 3 64-86-8 2833 6167
41
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 3 439-14-5 3016
42 Neuromuscular Blocking Agents Phase 3
43
Fluorouracil Approved Phase 2 51-21-8 3385
44
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 43805 6857599 5310940 9887054
45
Levoleucovorin Approved, Investigational Phase 2 68538-85-2
46
Tocopherol Approved, Investigational Phase 1, Phase 2 1406-66-2, 54-28-4 14986
47
Talazoparib Approved, Investigational Phase 2 1207456-01-6 135565082
48
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
49
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
50
rituximab Approved Phase 2 174722-31-7 10201696

Interventional clinical trials:

(show top 50) (show all 108)
# Name Status NCT ID Phase Drugs
1 Street Fitness in Surgical Patients Undergoing General Anesthesia After Reversal of Neuromuscular Rest Blockade With Sugammadex Unknown status NCT01453530 Phase 4 Sugammadex;Neostigmine/Glycopyrrolate
2 Strategies for the Control of Blinding Trachoma: Effect of Fly Spray Completed NCT00347763 Phase 4
3 RhDNase Effect on Biodistribution of PMN Serine Proteases in Cystic Fibrosis Sputum Completed NCT00843817 Phase 4 Pulmozyme
4 'SCHOOL-BASED TREATMENT WITH ACT TO REDUCE TRANSMISSION' (START-IPT): Evaluation of the Community Impact of Intermittent Preventive Treatment for Malaria in Ugandan Children: a Cluster Randomised Trial Completed NCT02009215 Phase 4 Dihydroartemisinin-piperaquine (DP)
5 Effect of Metadoxine on Oxidative Stress in Non-alcoholic Fatty Liver Disease Prediabetic Mexican Patients Recruiting NCT02051842 Phase 4 Metadoxine
6 Feasibility of PET/CT to Detect the Oral/Pulmonary Distribution of Nicotine Following E-cigarette Use Recruiting NCT03491059 Phase 4 C-11 labeled nicotine
7 XENITH: Rivaroxaban for Pulmonary Embolism Managed With Catheter Directed Thrombolysis Terminated NCT02506985 Phase 4 rivaroxaban;warfarin
8 Clinical Evaluation of Mosquito Coils to Control Malaria in China Unknown status NCT00442442 Phase 3
9 An Extension Study of CACZ885N2301 (NCT02059291), Multi-center, Open Label Study of Canakinumab in Japanese Patients With Periodic Fever Syndromes (Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS), Hyper Immunoglobulin D Syndrome ((Also Known as Mevalonate Kinase Deficiency) (HIDS/MKD), or Colchicine Resistant/Intolerant Familial Mediterranean Fever (crFMF)) Completed NCT02911857 Phase 3
10 A Randomized, Double-blind, Placebo Controlled Study of Canakinumab in Patients With Hereditary Periodic Fevers (TRAPS, HIDS, or crFMF), With Subsequent Randomized Withdrawal/Dosing Frequency Reduction and Open-label Long-term Treatment Epochs Completed NCT02059291 Phase 3 Canakinumab;Placebo
11 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
12 Replacement of Insecticides to Control Visceral Leishmaniasis Completed NCT01644682 Phase 3
13 A Prospective, Randomized Multicenter, Double Blind Clinical Trial Comparing Inhaled Dornase Alfa and Its Placebo to Reduce the Incidence of Moderate to Severe ARDS in Ventilated Trauma Patients in the Intensive Care Unit Recruiting NCT03368092 Phase 3 Dornase Alfa Inhalant Solution [Pulmozyme];Placebos
14 Efficacy and Safety of Aerosolized Intra-tracheal Dornase Alfa Administration in Patients With COVID19-induced Acute Respiratory Distress Syndrome (ARDS) Recruiting NCT04355364 Phase 3 Dornase Alfa Inhalation Solution [Pulmozyme]
15 Inhaled Dornase Alfa for Treatment of ARDS in Patients With SARS-CoV-2 Recruiting NCT04402970 Phase 3 Dornase Alfa Inhalation Solution
16 The Effects and Side Effects of ITS2357 in Autoinflammatory Syndromes Unknown status NCT00442182 Phase 2 ITF2357
17 An Open-label, Multicenter, Efficacy and Safety Study of 4-month Canakinumab Treatment With 6-month Follow-up in Patients With Active Recurrent or Chronic TNF-receptor Associated Periodic Syndrome (TRAPS). Completed NCT01242813 Phase 2 ACZ885
18 Randomized, Double-Blind, Placebo Controlled Phase II Study of FOLFOX +/- Ziv-Aflibercept in Patients With Advanced Esophageal and Gastric Cancer Completed NCT01747551 Phase 2 Oxaliplatin;Leucovorin;Fluorouracil;Ziv-aflibercept
19 Field Evaluation of Malaria Vector Control Using Traditional Plant-based Anti-mosquito Measures in Yunnan Province, P.R. China Completed NCT00116766 Phase 2
20 A Within-subject Laboratory and Field Trial to Test the Use of Commercially Available Insect Repellents Against Contact From Musca Sorbens, the Putative Vector of Trachoma Completed NCT03813069 Phase 2
21 Five Percent Albumin Versus Normal Saline as Fluid Resuscitation Strategies for the Management of Early Suspected Septic Shock Completed NCT00819416 Phase 2 5% albumin;Normal Saline
22 Effect of Gamma Tocopherol Enriched Supplementation on Response to Inhaled LPS Completed NCT02104505 Phase 1, Phase 2 Gamma Tocopherol 700 mg capsules,;Placebo
23 Effect of Gamma Tocopherol Enriched Supplementation on Response to Inhaled O3 Exposure Completed NCT02911688 Phase 2 gamma tocopherol;Placebo
24 A Single Escalating Dose Pilot Trial of Canakinumab (ILARIS®) Assessing Safety and Biomarker Changes in Boys With Duchenne Muscular Dystrophy Recruiting NCT03936894 Phase 1, Phase 2 Canakinumab Injection [Ilaris]
25 A Phase II Clinical Trial of the PARP Inhibitor Talazoparib in BRCA1 and BRCA2 Wild Type Patients With Advanced Triple Negative Breast Cancer and Homologous Recombination Deficiency or Advanced HER2 Negative Breast Cancer or Other Solid Tumors With a Mutation in Homologous Recombination Pathway Genes Recruiting NCT02401347 Phase 2 Talazoparib Tosylate
26 A Randomized Trial to Investigate the Reset of Humoral Autoimmunity by Combining Belimumab With Rituximab in Severe Systemic Lupus Erythematosus Recruiting NCT03747159 Phase 2 Belimumab Injection
27 Basket Combination Study of Inhibitors of DNA Damage Response, Angiogenesis and Programmed Death Ligand 1 in Patients With Advanced Solid Tumors Recruiting NCT03851614 Phase 2 Olaparib;Cediranib
28 Vitamin C Infusion for the Treatment of Severe 2019-nCoV Infected Pneumonia: a Prospective Randomized Clinical Trial Recruiting NCT04264533 Phase 2 VC;Sterile Water for Injection
29 Phase II Study of Ziv-aflibercept in Patients With Advanced, Progressive Carcinoid Tumors Active, not recruiting NCT01782443 Phase 2 Ziv-aflibercept
30 Randomized Placebo-controlled Trial Comparing Methotrexate vs. Methotrexate/Metformin Association in Rheumatoid Arthritis Patients Not yet recruiting NCT04196868 Phase 2 Metformin treatment;Methotrexate treatment
31 A Single-site, Randomised, Controlled, Parallel Design, Open-label Investigation of an Approved Nebulised Recombinant Human DNase Enzyme (Dornase Alfa) to Reduce Hyperinflammation in Hospitalised Participants With COVID-19 Not yet recruiting NCT04359654 Phase 2 Dornase Alfa Inhalation Solution [Pulmozyme]
32 Combination With Inhibitor of Neutrophil Elastase (All-trans Retinoic Acid ) and Isotretinoin May Enhances Neutralizing Antibodies in COVID -19 Infected Patients Better Than COVID-19 Inactivated Vaccines Not yet recruiting NCT04396067 Phase 2 Aerosolized 13 cis retinoic acid;Aerosolized All trans retinoic acid
33 Randomized Double Blind (Sponsor Unblind) Study Evaluating the Effect of 14 Days of Treatment With Danirixin (GSK1325756) on Neutrophil Extracellular Traps (NETs) Formation in Participants With Stable Chronic Obstructive Pulmonary Disease (COPD) Terminated NCT03250689 Phase 2 Danirixin;Placebo;Rescue medication;Inhaled COPD maintenance medication
34 R4Power: An Online Resilience Program for Adolescents Unknown status NCT00641368 Phase 1
35 Cockroach Allergen Reduction by Extermination Alone in Low-Income, Urban Homes-A Randomized Control Trial Completed NCT00341445 Phase 1
36 Investigation of Innate Immune Responses to Salmonella Typhi in Typhoid Fever in Children and Adults Patients and Vaccinees in Dhaka, Bangladesh Recruiting NCT03600025 Phase 1
37 Phase I Pilot Study Investigating the Safety and Tolerability of Inhaled rhDNase1 and Its Impact on Neutrophil Extracellular Traps (NETs) in Non-Ventilated COVID-19 Infected Patients Not yet recruiting NCT04409925 Phase 1 rhDNase I
38 Nitric Oxide, LPS and the Pathogenesis of Asthma - Phase II Terminated NCT00643058 Phase 1
39 Neutrophil Extracellular Traps and Neonatal (PV4991) & Pediatric Sepsis (PV5063) Unknown status NCT02567305
40 Neutrophil Extracellular Traps and Sickle Cell Disease Unknown status NCT02004808
41 The Ability of Neutrophils From Patients With Recurrent Infections to Produce Neutrophil Extracellular Traps (NET). Unknown status NCT01112592
42 Creation of a Tool to Assess Quality of Life in Patient With Auto-inflammatory Diseases Unknown status NCT03569644
43 Neutrophil Extracellular Traps (NETs) Formation Following Chemotherapy for Pediatric Hematological and Solid Tumors, and Its Relation to Other Neutrophil Functions and the Role of NETs in Antitumor Activity Unknown status NCT01533779
44 Neutrophil Extracellular Traps (NETs) Formation Post-hematopoietic Stem Cell Transplantation (HSCT) and Its Relation to Chemotaxis and Creation of Reactive Oxygen Species Unknown status NCT01491230
45 Molecular and Genetic Analysis of Disturbed Wound Healing in Barbadians With Diabetic Foot Ulcers Unknown status NCT01002521
46 Comparison of Atherothrombosis Markers From Aortic Atheroma in Diabetic and Non-diabetic Patients Unknown status NCT02898467
47 Diagnostic Value of Antibodies Against a Modified Citrullinated Vimentin in Patients With Rheumatoid Arthritis Unknown status NCT03265236
48 Interferon-lambda: Novel Biologics for Controlling Neutrophil-mediated Pathology in Rheumatic Diseases? Unknown status NCT02498808
49 Single Nucleotide Polymorphisms in the Deoxyribonuclease 1 Gene Impair Its Activity and Are Increased in a ST-elevation Acute Coronary Syndrome Patient Cohort Compared to Healthy Controls Unknown status NCT02615015
50 Rheolytic Thrombectomy For Adult Intraventricular Haemorrhage Unknown status NCT02394678

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

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Genetic Tests for Periodic Fever, Familial, Autosomal Dominant

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

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

Anatomical Context for Periodic Fever, Familial, Autosomal Dominant

About this section

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

40
Skin, Neutrophil, Eye, Heart, Kidney, Testes, Bone
Sources

Publications for Periodic Fever, Familial, Autosomal Dominant

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Articles related to Periodic Fever, Familial, Autosomal Dominant:

(show top 50) (show all 211)
# Title Authors PMID Year
1
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance. 6 56 54 61
11175303 2001
2
The tumor-necrosis-factor-associated periodic syndrome, the brain, and tumor-necrosis-factor-alpha antagonists. 56 6
17360963 2007
3
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. 56 6
10199409 1999
4
Linkage of familial Hibernian fever to chromosome 12p13. 56 6
9585614 1998
5
Gene localization for an autosomal dominant familial periodic fever to 12p13. 6 56
9529351 1998
6
Autosomal dominant 'Mediterranean fever' in a Finnish family. 6 56
1402641 1992
7
Familial Hibernian fever. 56 6
7156325 1982
8
Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. 6 54 61
13130484 2003
9
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. 6 54 61
11443543 2001
10
Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations. 61 56 54
11115159 2000
11
A new mutation causing autosomal dominant periodic fever syndrome in a Danish family. 56 61
12584543 2003
12
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. 56
16446975 2006
13
Hereditary periodic fever. 56
11742050 2001
14
A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family. 6
10902757 2000
15
Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. 56
10412980 1999
16
Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group. 56
8190036 1994
17
A description of two brothers with permanently raised non-esterified aetiocholanolone blood level. 56
4229818 1968
18
Periodic fever: occurrence in five generations. 56
13458215 1957
19
A monoallelic double mutation as a cause for TNF receptor-associated periodic fever syndrome. 54 61
19547977 2010
20
A novel mutation in TNFRSF1A associated with overlapping features of tumor necrosis factor receptor-associated periodic syndrome and hyper-IgD syndrome. 61 54
20346247 2010
21
No regression of renal amyloid mass despite remission of nephrotic syndrome in a patient with TRAPS following etanercept therapy. 54 61
20091495 2010
22
[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)]. 61 54
19830438 2009
23
Differentiating PFAPA syndrome from monogenic periodic fevers. 61 54
19786432 2009
24
Idiopathic recurrent pericarditis refractory to colchicine treatment can reveal tumor necrosis factor receptor-associated periodic syndrome. 61 54
20074469 2009
25
Autoinflammatory syndromes: report on three cases. 54 61
20169282 2009
26
Autoinflammatory syndromes behind the scenes of recurrent fevers in children. 54 61
19644432 2009
27
Neurological manifestations of the Mendelian-inherited autoinflammatory syndromes. 61 54
19563585 2009
28
Proinflammatory action of the antiinflammatory drug infliximab in tumor necrosis factor receptor-associated periodic syndrome. 61 54
19180495 2009
29
Tumor necrosis factor receptor-associated periodic syndrome: toward a molecular understanding of the systemic autoinflammatory diseases. 54 61
19116899 2009
30
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. 61 54
19116900 2009
31
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) or familial Hibernian fever: presentation in a four-day-old infant. 54 61
18690165 2008
32
First report of rapidly progressive glomerulonephritis in tumor necrosis factor receptor-associated periodic syndrome. 61 54
18821681 2008
33
[First manifestation of psoriasis vulgaris in tumor necrosis factor receptor-associated periodic syndrome during treatment with etanercept]. 54 61
18210001 2008
34
Cell surface expression of TNFRI in tumor necrosis factor receptor-associated periodic syndrome: comment on the article by Nedjai et al. 61 54
18576329 2008
35
Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. 54 61
18438813 2008
36
Autoinflammatory diseases: clinical and genetic advances. 61 54
18347298 2008
37
[Tumor necrosis factor receptor-associated periodic syndrome]. 61 54
18341881 2008
38
Abnormal tumor necrosis factor receptor I cell surface expression and NF-kappaB activation in tumor necrosis factor receptor-associated periodic syndrome. 61 54
18163488 2008
39
Elevated CD16 expression by monocytes from patients with tumor necrosis factor receptor-associated periodic syndrome. 61 54
18050249 2007
40
Autoinflammatory syndromes with a dermatological perspective. 54 61
17727363 2007
41
Mutant tumor necrosis factor receptor associated with tumor necrosis factor receptor-associated periodic syndrome is altered antigenically and is retained within patients' leukocytes. 61 54
17665435 2007
42
Late-onset tumor necrosis factor receptor-associated periodic syndrome in multiple sclerosis patients carrying the TNFRSF1A R92Q mutation. 54 61
17665448 2007
43
Tumor necrosis factor receptor-associated periodic syndrome with a C30R mutation in a Japanese family. 54 61
17564788 2007
44
Tumor necrosis factor receptor-associated periodic syndrome mimicking systemic juvenile idiopathic arthritis. 61 54
17075277 2006
45
Modeling of tumor necrosis factor receptor superfamily 1A mutants associated with tumor necrosis factor receptor-associated periodic syndrome indicates misfolding consistent with abnormal function. 54 61
16871532 2006
46
AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: a report of two cases. 54 61
16732551 2006
47
Intestinal pseudo-obstruction as a manifestation of tumor necrosis factor receptor-associated periodic syndrome. 61 54
16865571 2006
48
Severe TNF receptor-associated periodic syndrome due to 2 TNFRSF1A mutations including a new F60V substitution. 61 54
16401480 2006
49
Hereditary periodic fever syndrome sans fever or distinct periodicity presenting with psychosis. 54 61
16371805 2005
50
Adrenal and gonadal hormone variations during a febrile attack in a woman with tumor necrosis factor receptor-associated periodic syndrome. 54 61
16030167 2005
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Variations for Periodic Fever, Familial, Autosomal Dominant

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

6 (show top 50) (show all 181) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TNFRSF1A NM_001065.4(TNFRSF1A):c.185G>A (p.Cys62Tyr)SNV Pathogenic 12335 rs104895218 12:6443265-6443265 12:6334099-6334099
2 TNFRSF1A NM_001065.4(TNFRSF1A):c.236C>T (p.Thr79Met)SNV Pathogenic 12336 rs104895219 12:6442989-6442989 12:6333823-6333823
3 TNFRSF1A NM_001065.4(TNFRSF1A):c.175T>C (p.Cys59Arg)SNV Pathogenic 12337 rs104895217 12:6443275-6443275 12:6334109-6334109
4 TNFRSF1A NM_001065.4(TNFRSF1A):c.242G>T (p.Cys81Phe)SNV Pathogenic 12338 rs104895220 12:6442983-6442983 12:6333817-6333817
5 TNFRSF1A NM_001065.4(TNFRSF1A):c.349T>C (p.Cys117Arg)SNV Pathogenic 12339 rs104895221 12:6442656-6442656 12:6333490-6333490
6 TNFRSF1A NM_001065.4(TNFRSF1A):c.350G>A (p.Cys117Tyr)SNV Pathogenic 12340 rs104895222 12:6442655-6442655 12:6333489-6333489
7 TNFRSF1A NM_001065.4(TNFRSF1A):c.362G>C (p.Arg121Pro)SNV Pathogenic 12341 rs4149584 12:6442643-6442643 12:6333477-6333477
8 TNFRSF1A NM_001065.4(TNFRSF1A):c.176G>C (p.Cys59Ser)SNV Pathogenic 12342 rs104895223 12:6443274-6443274 12:6334108-6334108
9 TNFRSF1A TNFRSF1A, 3-BP DEL, NT211deletion Pathogenic 12344
10 TNFRSF1A NM_001065.4(TNFRSF1A):c.295T>A (p.Cys99Ser)SNV Pathogenic 12345 rs104895228 12:6442930-6442930 12:6333764-6333764
11 TNFRSF1A TNFRSF1A, CYS55ALAundetermined variant Pathogenic 12346
12 TNFRSF1A NM_001065.3(TNFRSF1A):c.596T>A (p.Ile199Asn)SNV Pathogenic 97710 rs104895247 12:6440048-6440048 12:6330882-6330882
13 TNFRSF1A NM_001065.4(TNFRSF1A):c.295T>C (p.Cys99Arg)SNV Pathogenic 97686 rs104895228 12:6442930-6442930 12:6333764-6333764
14 TNFRSF1A NM_001065.4(TNFRSF1A):c.251G>A (p.Cys84Tyr)SNV Pathogenic 97673 rs104895224 12:6442974-6442974 12:6333808-6333808
15 TNFRSF1A NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu)SNV Pathogenic/Likely pathogenic 97643 rs104895271 12:6443327-6443327 12:6334161-6334161
16 TNFRSF1A NM_001065.4(TNFRSF1A):c.305G>A (p.Cys102Tyr)SNV Likely pathogenic 572070 rs1555108112 12:6442920-6442920 12:6333754-6333754
17 TNFRSF1A NM_001065.4(TNFRSF1A):c.250T>C (p.Cys84Arg)SNV Likely pathogenic 97672 rs104895253 12:6442975-6442975 12:6333809-6333809
18 TNFRSF1A NM_001065.4(TNFRSF1A):c.241T>C (p.Cys81Arg)SNV Likely pathogenic 97668 rs104895232 12:6442984-6442984 12:6333818-6333818
19 TNFRSF1A NM_001065.4(TNFRSF1A):c.361C>T (p.Arg121Trp)SNV Likely pathogenic 97694 rs104895276 12:6442644-6442644 12:6333478-6333478
20 TNFRSF1A NM_001065.4(TNFRSF1A):c.184T>G (p.Cys62Gly)SNV Likely pathogenic 12343 rs104895225 12:6443266-6443266 12:6334100-6334100
21 TNFRSF1A NM_001065.4(TNFRSF1A):c.269C>T (p.Thr90Ile)SNV Conflicting interpretations of pathogenicity 532185 rs34751757 12:6442956-6442956 12:6333790-6333790
22 TNFRSF1A NM_001065.4(TNFRSF1A):c.255G>C (p.Glu85Asp)SNV Conflicting interpretations of pathogenicity 566105 rs770439546 12:6442970-6442970 12:6333804-6333804
23 TNFRSF1A NM_001065.4(TNFRSF1A):c.645C>T (p.Pro215=)SNV Conflicting interpretations of pathogenicity 137680 rs147075345 12:6439858-6439858 12:6330692-6330692
24 TNFRSF1A NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln)SNV Conflicting interpretations of pathogenicity 217017 rs4149584 12:6442643-6442643 12:6333477-6333477
25 TNFRSF1A NM_001065.4(TNFRSF1A):c.1083C>T (p.Ala361=)SNV Conflicting interpretations of pathogenicity 756856 12:6438763-6438763 12:6329597-6329597
26 TNFRSF1A NM_001065.4(TNFRSF1A):c.282C>G (p.Asn94Lys)SNV Conflicting interpretations of pathogenicity 234421 rs876661014 12:6442943-6442943 12:6333777-6333777
27 SCNN1A , TNFRSF1A NM_001065.4(TNFRSF1A):c.-233C>TSNV Conflicting interpretations of pathogenicity 310116 rs45537340 12:6451213-6451213 12:6342047-6342047
28 TNFRSF1A NM_001065.4(TNFRSF1A):c.1206C>T (p.Ser402=)SNV Conflicting interpretations of pathogenicity 310106 rs148334665 12:6438640-6438640 12:6329474-6329474
29 TNFRSF1A NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=)SNV Conflicting interpretations of pathogenicity 310107 rs201683984 12:6438736-6438736 12:6329570-6329570
30 TNFRSF1A NM_001065.3(TNFRSF1A):c.472+7G>TSNV Conflicting interpretations of pathogenicity 310112 rs200194581 12:6442526-6442526 12:6333360-6333360
31 SCNN1A , TNFRSF1A NM_001065.4(TNFRSF1A):c.-74G>ASNV Conflicting interpretations of pathogenicity 310113 rs200084924 12:6451054-6451054 12:6341888-6341888
32 SCNN1A , TNFRSF1A NM_001065.4(TNFRSF1A):c.-96C>TSNV Conflicting interpretations of pathogenicity 310114 rs115164694 12:6451076-6451076 12:6341910-6341910
33 TNFRSF1A NM_001065.4(TNFRSF1A):c.935G>A (p.Arg312Lys)SNV Conflicting interpretations of pathogenicity 378735 rs200900510 12:6439066-6439066 12:6329900-6329900
34 TNFRSF1A NM_001065.4(TNFRSF1A):c.988G>A (p.Ala330Thr)SNV Conflicting interpretations of pathogenicity 378736 rs200029309 12:6439013-6439013 12:6329847-6329847
35 TNFRSF1A NM_001065.4(TNFRSF1A):c.265T>C (p.Phe89Leu)SNV Conflicting interpretations of pathogenicity 97676 rs104895245 12:6442960-6442960 12:6333794-6333794
36 TNFRSF1A NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=)SNV Conflicting interpretations of pathogenicity 97695 rs104895260 12:6442636-6442636 12:6333470-6333470
37 TNFRSF1A NM_001065.4(TNFRSF1A):c.370G>A (p.Val124Met)SNV Uncertain significance 97696 rs104895278 12:6442635-6442635 12:6333469-6333469
38 TNFRSF1A NM_001065.3(TNFRSF1A):c.472+6C>TSNV Uncertain significance 97705 rs104895277 12:6442527-6442527 12:6333361-6333361
39 TNFRSF1A NM_001065.4(TNFRSF1A):c.228G>A (p.Gly76=)SNV Uncertain significance 97666 rs104895274 12:6442997-6442997 12:6333831-6333831
40 TNFRSF1A NM_001065.4(TNFRSF1A):c.249G>A (p.Glu83=)SNV Uncertain significance 97671 rs104895265 12:6442976-6442976 12:6333810-6333810
41 TNFRSF1A NM_001065.4(TNFRSF1A):c.243C>G (p.Cys81Trp)SNV Uncertain significance 97670 rs56002980 12:6442982-6442982 12:6333816-6333816
42 TNFRSF1A NM_001065.3(TNFRSF1A):c.194-14G>ASNV Uncertain significance 97654 rs104895241 12:6443045-6443045 12:6333879-6333879
43 TNFRSF1A NM_001065.4(TNFRSF1A):c.176G>A (p.Cys59Tyr)SNV Uncertain significance 97652 rs104895223 12:6443274-6443274 12:6334108-6334108
44 TNFRSF1A NM_001065.4(TNFRSF1A):c.532G>A (p.Glu178Lys)SNV Uncertain significance 310111 rs538872981 12:6442254-6442254 12:6333088-6333088
45 TNFRSF1A NM_001065.4(TNFRSF1A):c.*357_*361GTTTT[5]short repeat Uncertain significance 310097 rs554776242 12:6438101-6438102 12:6328935-6328936
46 TNFRSF1A NM_001065.4(TNFRSF1A):c.*38C>TSNV Uncertain significance 310104 rs200297634 12:6438440-6438440 12:6329274-6329274
47 TNFRSF1A NM_001065.4(TNFRSF1A):c.434A>G (p.Asn145Ser)SNV Uncertain significance 97703 rs104895288 12:6442571-6442571 12:6333405-6333405
48 TNFRSF1A NM_001065.4(TNFRSF1A):c.287T>C (p.Leu96Pro)SNV Uncertain significance 97684 rs104895235 12:6442938-6442938 12:6333772-6333772
49 TNFRSF1A NM_001065.4(TNFRSF1A):c.753G>A (p.Ser251=)SNV Uncertain significance 310110 rs201358363 12:6439448-6439448 12:6330282-6330282
50 TNFRSF1A NM_001065.4(TNFRSF1A):c.-162T>CSNV Uncertain significance 310115 rs886049751 12:6451142-6451142 12:6341976-6341976

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

73 (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

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Expression for Periodic Fever, Familial, Autosomal Dominant

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

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

36
# 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 21)
# Super pathways Score Top Affiliating Genes
1
Toll-Like receptor Signaling Pathways 64
Show member pathways
 12.56 TNF NLRP3 NLRP12 IL1RN IL1B
2
Shigellosis 36
12.27 TNFRSF1A TNF NLRP3 IL1B
3
NF-kappaB Signaling 4
12.25 TNFRSF1B TNFRSF1A TNF LAT2 IL1RN IL1B
4
Salmonella infection (KEGG) 36
12.16 TNFRSF1A TNF NLRP3 IL1B
5
Pathogenic Escherichia coli infection 36
12.09 TNFRSF1A TNF NLRP3 IL1B
6
Necroptosis 36
Show member pathways
 11.95 TNFRSF1A TNF NLRP3 IL1B H2AC18
7
Yersinia infection 36
11.78 TNF NLRP3 MEFV IL1B
8
Amyotrophic lateral sclerosis (ALS) 36 1
11.75 TNFRSF1B TNFRSF1A TNF
9
TNF signaling pathway 36
11.72 TNFRSF1B TNFRSF1A TNF IL1B
10
NOD-like receptor signaling pathway 36
11.69 TNF PSTPIP1 NLRP3 NLRP12 MEFV IL1B
11
TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions 64
Show member pathways
 11.68 TNFRSF1B TNFRSF1A TNF
12
Pertussis 36
11.63 TNF NLRP3 IL1B
13
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway 22
Show member pathways
 11.61 TNFRSF1B TNFRSF1A TNF
14
Adipocytokine signaling pathway 36
11.57 TNFRSF1B TNFRSF1A TNF
15
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.51 TNFRSF1A TNF IL1B
16
Transcription_NF-kB signaling pathway 22
11.4 TNFRSF1B TNFRSF1A TNF
17
Cellular Transformation by HTLV1 63
Show member pathways
 11.36 TNFRSF1B TNFRSF1A TNF
18
IL-15 Signaling and its Primary Biological Effects in Different Immune Cell Types 64
Show member pathways
 11.19 TNFRSF1B TNFRSF1A TNF
19
14-3-3 and Regulation of BAD Activity 63
11.11 TNFRSF1B TNFRSF1A TNF
20
Nucleotide-binding Oligomerization Domain (NOD) pathway 1
11.07 NLRP3 NLRP12 MEFV IL1B
21
Interleukin-10 signaling 65
10.71 TNFRSF1B TNFRSF1A TNF IL1RN IL1B
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GO Terms for Periodic Fever, Familial, Autosomal Dominant

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.81 TNFRSF1B TNFRSF1A TNF SPINK5 NLRP3 IL1RN
2 membrane raft GO:0045121 9.26 TNFRSF1B TNFRSF1A TNF LAT2
3 tumor necrosis factor receptor superfamily complex GO:0002947 8.62 TNFRSF1B TNFRSF1A

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 cellular response to lipopolysaccharide GO:0071222 9.86 TNFRSF1B TNF NLRP3 IL1B
2 cytokine-mediated signaling pathway GO:0019221 9.8 TNFRSF1B TNFRSF1A TNF IL1RN IL1B
3 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.79 TNF NLRP3 NLRP12
4 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.75 TNF NLRP12 IL1B
5 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.72 TNFRSF1B TNFRSF1A TNF
6 positive regulation of inflammatory response GO:0050729 9.62 TNFRSF1A TNF NLRP12 IL1B
7 positive regulation of chemokine biosynthetic process GO:0045080 9.61 TNF IL1B
8 positive regulation of ceramide biosynthetic process GO:2000304 9.6 TNFRSF1A TNF
9 positive regulation of neuroinflammatory response GO:0150078 9.59 TNF IL1B
10 death-inducing signaling complex assembly GO:0071550 9.58 TNFRSF1A TNF
11 interleukin-1 beta production GO:0032611 9.57 NLRP3 IL1B
12 inflammatory response GO:0006954 9.56 TNFRSF1B TNFRSF1A TNF PSTPIP1 NLRP3 MEFV
13 positive regulation of fever generation GO:0031622 9.54 TNF IL1B
14 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.54 TNF NLRP12 IL1B
15 aortic valve development GO:0003176 9.52 TNFRSF1B TNFRSF1A
16 sequestering of triglyceride GO:0030730 9.51 TNF IL1B
17 negative regulation of extracellular matrix constituent secretion GO:0003332 9.49 TNFRSF1B TNFRSF1A
18 pulmonary valve development GO:0003177 9.48 TNFRSF1B TNFRSF1A
19 positive regulation of apoptotic process involved in morphogenesis GO:1902339 9.46 TNFRSF1B TNFRSF1A
20 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.43 TNF IL1B
21 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.43 TNFRSF1B TNF IL1B
22 regulation of establishment of endothelial barrier GO:1903140 9.33 TNFRSF1A TNF IL1B
23 negative regulation of inflammatory response GO:0050728 9.17 TNFRSF1B TNFRSF1A NLRP3 NLRP12 MVK MEFV

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

# Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor-activated receptor activity GO:0005031 8.96 TNFRSF1B TNFRSF1A
2 tumor necrosis factor binding GO:0043120 8.62 TNFRSF1B TNFRSF1A
Sources

Sources for Periodic Fever, Familial, Autosomal Dominant

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