FHF
MCID: PRD013
MIFTS: 67

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 74 37 55
Familial Hibernian Fever 57 12 53 25 59 74
Tnf Receptor-Associated Periodic Fever Syndrome 53 25 29 6 40
Traps 57 75 53 25 74
Autosomal Dominant Familial Periodic Fever 12 25 15
Tnf Receptor-Associated Periodic Syndrome 57 53 74
Hibernian Fever, Familial 57 75 53
Fpf 57 53 25
Fhf 57 53 74
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 72
Familial Periodic Fever Autosomal Dominant 74
Tnf Receptor Associated Periodic Syndrome 75
Hibernian Fever, Familial; Fhf 57
Familial Periodic Fever 6
Caledonian Fever 74
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:



External Ids:

Disease Ontology 12 DOID:0090018
OMIM 57 142680
KEGG 37 H00912
MeSH 44 D056660
ICD10 33 E85.0
ICD10 via Orphanet 34 E85.0
UMLS via Orphanet 73 C1275126
Orphanet 59 ORPHA32960
MedGen 42 C1275126
UMLS 72 C3889136

Summaries for Periodic Fever, Familial, Autosomal Dominant

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 idiopathic recurrent pericarditis and systemic onset juvenile idiopathic arthritis. 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 Metformin have been mentioned in the context of this disorder. Affiliated tissues include skin, neutrophil and eye, and related phenotypes are abdominal pain and skin rash

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.

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.

KEGG : 37
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 : 74 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 : 75 TNF receptor associated periodic syndrome (TRAPS) is a periodic fever syndrome associated with mutations... more...

More information from OMIM: 142680

Related Diseases for Periodic Fever, Familial, Autosomal Dominant

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 1251)
# Related Disease Score Top Affiliating Genes
1 idiopathic recurrent pericarditis 31.0 TNFRSF1A MEFV
2 systemic onset juvenile idiopathic arthritis 30.9 TNF MEFV
3 cryopyrin-associated periodic syndrome 30.8 NLRP3 IL1RN
4 hyper-igd syndrome 30.8 TNFRSF1A MVK IL1RN
5 muckle-wells syndrome 30.7 TNFRSF1A NLRP3 MEFV
6 wells syndrome 30.7 TNFRSF1A NLRP3 MEFV
7 amyloidosis 30.7 TNFRSF1A NLRP3 MEFV
8 cardiac tamponade 30.6 TNFRSF1A IL1RN
9 relapsing fever 30.4 TNFRSF1A TNF MVK MEFV
10 brucellosis 30.4 TNF MEFV IL1RN
11 exanthem 30.4 TNFRSF1B TNF NLRP3 IL1RN
12 pyoderma 30.4 TNF MEFV
13 mevalonic aciduria 30.4 NLRP3 MVK IL1RN
14 vasculitis 30.3 TNFRSF1B TNF MEFV
15 pericarditis 30.3 TNFRSF1A TNF MEFV IL1RN
16 psoriatic arthritis 30.3 TNFRSF1B TNFRSF1A TNF
17 pustulosis of palm and sole 30.3 TNFRSF1B TNF IL1RN
18 aphthous stomatitis 30.2 TNF NLRP3 MEFV IL1RN
19 cinca syndrome 30.2 NLRP3 MVK MEFV IL1RN
20 juvenile rheumatoid arthritis 30.2 TNFRSF1B TNF IL1RN
21 intermittent hydrarthrosis 30.2 TNFRSF1A MEFV
22 hydrarthrosis 30.0 MEFV IL1RN
23 rheumatoid arthritis 29.8 TNFRSF1B TNFRSF1A TNF IL1RN
24 adult-onset still's disease 29.7 TNFRSF1A TNF MEFV IL1RN
25 familial mediterranean fever 29.7 TNFRSF1A TNF NLRP3 MVK MEFV IL1RN
26 familial cold autoinflammatory syndrome 1 29.7 TNFRSF1A NLRP3 MEFV
27 cervical adenitis 29.7 NLRP3 MVK MEFV
28 silicosis 29.7 TNF NLRP3 IL1RN
29 hypersensitivity reaction type iii disease 29.6 TNF MEFV
30 pyoderma gangrenosum 29.5 TNF NLRP3 MVK MEFV
31 spondylitis 29.5 TNFRSF1B TNF IL1RN
32 blau syndrome 29.3 TNF NLRP3 MVK MEFV
33 panuveitis 29.2 TNFRSF1B TNF
34 triiodothyronine receptor auxiliary protein 12.0
35 acute liver failure 12.0
36 thyroid dyshormonogenesis 1 11.7
37 neural tube defects 11.4
38 coronary artery dissection, spontaneous 11.4
39 nerve compression syndrome 11.4
40 gas gangrene 11.4
41 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.3
42 spondyloenchondrodysplasia with immune dysregulation 11.3
43 epidermoid brain cyst 11.3
44 duodenal atresia 11.1
45 hepatic fibrosis, severe due to schistosoma mansoni infection 11.1
46 dehydrated hereditary stomatocytosis 2 11.1
47 tonsillitis 11.1
48 fox-fordyce disease 11.1
49 miliaria 11.1
50 paraphimosis 11.1

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

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

59 32 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
2 skin rash 59 32 hallmark (90%) Very frequent (99-80%) HP:0000988
3 pericarditis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001701
4 myalgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003326
5 diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002014
6 elevated c-reactive protein level 59 32 hallmark (90%) Very frequent (99-80%) HP:0011227
7 elevated erythrocyte sedimentation rate 59 32 hallmark (90%) Very frequent (99-80%) HP:0003565
8 erysipelas 59 32 hallmark (90%) Very frequent (99-80%) HP:0001055
9 recurrent fever 32 hallmark (90%) HP:0001954
10 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
11 arthritis 59 32 frequent (33%) Frequent (79-30%) HP:0001369
12 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
13 vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002013
14 erythema 59 32 frequent (33%) Frequent (79-30%) HP:0010783
15 intestinal obstruction 59 32 frequent (33%) Frequent (79-30%) HP:0005214
16 leukocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0001974
17 lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002716
18 pleuritis 59 32 frequent (33%) Frequent (79-30%) HP:0002102
19 orchitis 59 32 frequent (33%) Frequent (79-30%) HP:0100796
20 behavioral abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0000708
21 cranial nerve paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0006824
22 arthralgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002829
23 hypermelanotic macule 59 32 occasional (7.5%) Occasional (29-5%) HP:0001034
24 abnormal myocardium morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001637
25 myositis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100614
26 chest pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0100749
27 migraine 59 32 occasional (7.5%) Occasional (29-5%) HP:0002076
28 paresthesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003401
29 vertigo 59 32 occasional (7.5%) Occasional (29-5%) HP:0002321
30 uveitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000554
31 cellulitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100658
32 recurrent pharyngitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100776
33 conjunctivitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000509
34 bruising susceptibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0000978
35 vasculitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002633
36 periorbital edema 59 32 occasional (7.5%) Occasional (29-5%) HP:0100539
37 peritonitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002586
38 abnormality of the sacroiliac joint 59 32 occasional (7.5%) Occasional (29-5%) HP:0100781
39 fasciitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100537
40 edema 32 HP:0000969
41 macule 59 Very frequent (99-80%)
42 muscle stiffness 32 HP:0003552
43 episodic fever 59 Very frequent (99-80%)
44 amyloidosis 32 HP:0011034
45 conjunctival hyperemia 32 HP:0030953
46 hepatic amyloidosis 32 HP:0012280

Symptoms via clinical synopsis from OMIM:

57
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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.32 F2R NLRP3 TNF TNFRSF1A TNFRSF1B
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.32 F2R NLRP3 TNF TNFRSF1A TNFRSF1B

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.17 F2R IL1RN LAT MEFV NLRP12 NLRP3
2 homeostasis/metabolism MP:0005376 10.14 F2R IL1RN LAT MEFV NLRP12 NLRP3
3 cellular MP:0005384 10.13 F2R IL1RN LAT MEFV NLRP12 NLRP3
4 immune system MP:0005387 10.11 F2R IL1RN LAT MEFV NLRP12 NLRP3
5 digestive/alimentary MP:0005381 10 F2R LAT NLRP12 NLRP3 TNF TNFRSF1A
6 integument MP:0010771 9.87 IL1RN MEFV NLRP3 SPINK5 TNF TNFRSF1A
7 mortality/aging MP:0010768 9.85 F2R IL1RN LAT MEFV NLRP3 SPINK5
8 liver/biliary system MP:0005370 9.8 F2R LAT MEFV NLRP3 TNF TNFRSF1A
9 neoplasm MP:0002006 9.35 F2R NLRP12 TNF TNFRSF1A TNFRSF1B
10 skeleton MP:0005390 9.17 F2R IL1RN MEFV NLRP3 TNF TNFRSF1A

Drugs & Therapeutics for Periodic Fever, Familial, Autosomal Dominant

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

(show top 50) (show all 204)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
2
Metformin Approved Phase 4 657-24-9 4091 14219
3
Nicotine Approved Phase 4 54-11-5 942 89594
4
tannic acid Approved Phase 4 1401-55-4
5
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
6
Rivaroxaban Approved Phase 4 366789-02-8
7
Dalteparin Approved Phase 4 9005-49-6
8
Warfarin Approved Phase 4 81-81-2 6691 54678486
9
Enoxaparin Approved Phase 4 9005-49-6 772
10
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
11
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
12
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
13
Serine Approved, Nutraceutical Phase 4 56-45-1 5951
14
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
15
Dihydroartemisinin Experimental, Investigational Phase 4 71939-50-9 6918483
16
Piperaquine Experimental, Investigational Phase 4 4085-31-8 5079497
17 Muscarinic Antagonists Phase 4
18 Cholinergic Antagonists Phase 4
19 Anesthetics Phase 4
20
Glycopyrrolate Phase 4 596-51-0 3494
21 Cholinesterase Inhibitors Phase 4
22 Adjuvants, Anesthesia Phase 4
23 Anti-Infective Agents Phase 4
24 Antiparasitic Agents Phase 4
25 Antimalarials Phase 4
26 Antiprotozoal Agents Phase 4
27 Artemisinins Phase 4
28 Artemisinine Phase 4
29 Cholinergic Agents Phase 4
30 Neurotransmitter Agents Phase 4
31 Metadoxine Phase 4
32 Vitamins Phase 4
33 Vitamin B9 Phase 4
34 Vitamin B 6 Phase 4
35 Vitamin B Complex Phase 4
36 Folate Phase 4
37 Liver Extracts Phase 4
38 Peripheral Nervous System Agents Phase 4
39 Autonomic Agents Phase 4
40 Central Nervous System Stimulants Phase 4
41 Nicotinic Agonists Phase 4
42 Fibrinolytic Agents Phase 4
43 Tissue Plasminogen Activator Phase 4
44
protease inhibitors Phase 4
45 HIV Protease Inhibitors Phase 4
46 Antithrombin III Phase 4
47 Heparin, Low-Molecular-Weight Phase 4
48 Serine Proteinase Inhibitors Phase 4
49 Factor Xa Inhibitors Phase 4
50 Anticoagulants Phase 4

Interventional clinical trials:

(show top 50) (show all 88)
# 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 The Effects and Side Effects of ITS2357 in Autoinflammatory Syndromes Unknown status NCT00442182 Phase 2 ITF2357
15 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
16 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
17 Field Evaluation of Malaria Vector Control Using Traditional Plant-based Anti-mosquito Measures in Yunnan Province, P.R. China Completed NCT00116766 Phase 2
18 Effect of Gamma Tocopherol Enriched Supplementation on Response to Inhaled LPS Completed NCT02104505 Phase 1, Phase 2 Gamma Tocopherol 700 mg capsules,;Placebo
19 Effect of Gamma Tocopherol Enriched Supplementation on Response to Inhaled O3 Exposure Completed NCT02911688 Phase 2 gamma tocopherol;Placebo
20 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
21 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]
22 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
23 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
24 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
25 Phase II Study of Ziv-aflibercept in Patients With Advanced, Progressive Carcinoid Tumors Active, not recruiting NCT01782443 Phase 2 Ziv-aflibercept
26 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 Suspended NCT03813069 Phase 2
27 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
28 R4Power: An Online Resilience Program for Adolescents Unknown status NCT00641368 Phase 1
29 Cockroach Allergen Reduction by Extermination Alone in Low-Income, Urban Homes-A Randomized Control Trial Completed NCT00341445 Phase 1
30 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
31 Nitric Oxide, LPS and the Pathogenesis of Asthma - Phase II Terminated NCT00643058 Phase 1
32 The Ability of Neutrophils From Patients With Recurrent Infections to Produce Neutrophil Extracellular Traps (NET). Unknown status NCT01112592
33 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
34 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
35 Molecular and Genetic Analysis of Disturbed Wound Healing in Barbadians With Diabetic Foot Ulcers Unknown status NCT01002521
36 Comparison of Atherothrombosis Markers From Aortic Atheroma in Diabetic and Non-diabetic Patients Unknown status NCT02898467
37 Diagnostic Value of Antibodies Against a Modified Citrullinated Vimentin in Patients With Rheumatoid Arthritis Unknown status NCT03265236
38 Interferon-lambda: Novel Biologics for Controlling Neutrophil-mediated Pathology in Rheumatic Diseases? Unknown status NCT02498808
39 Rheolytic Thrombectomy For Adult Intraventricular Haemorrhage Unknown status NCT02394678
40 Impact of Neutrophil Extracellular Traps (NET) on Thrombolysis in Acute Phase of Cerebral Ischemia Completed NCT02948465
41 Neutrophil Extracellular Traps and Thrombolysis in the Acute Stroke Completed NCT02476188
42 Evaluation of Past Medications in Patients With Coronary Heart Disease and Patients Hospitalized for a Non-cardiac Reason Completed NCT02740621
43 Neutrophil Extracellular Trap Formation in Patients Undergoing Bone Marrow Transplant Completed NCT01735565
44 Effect of Oasis® Wound Matrix on Stage III and IV Trunk Pressure Wounds Treated With Negative Pressure Wound Therapy (NPWT) Completed NCT02246608
45 Secretion Induction of Neutrophil Extracellular Traps (NETs)in Inflammatory and Infectious Environment of Mucoviscidose Completed NCT02564393
46 Efficacy, Acceptability and Cost-effectiveness of Long Lasting Insecticide Nets (LLIN) in the Prevention of Kala Azar Completed NCT00318721
47 Analysis of Neutrophil Response in Chronic Periodontitis (Including the Project Entitled 'Pro-Inflammatory Cytokine Production by Neutrophils in Periodontitis Patients') Completed NCT01233765
48 Study of the Exhaled Breath of Patients With Malignant and Benign Lesions With Na-Nose Completed NCT01420588
49 Trial of a Parenting Discussion Group in Panama, Central America Completed NCT01771068
50 Role of Neutrophil Activation in Anaphylaxis to Neuro-Muscular Blocking Agents Completed NCT01637220

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, Neutrophil, Eye, Heart, Kidney, Bone, Testes

Publications for Periodic Fever, Familial, Autosomal Dominant

Articles related to Periodic Fever, Familial, Autosomal Dominant:

(show top 50) (show all 200)
# 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. 9 38 8 71
11175303 2001
2
The tumor-necrosis-factor-associated periodic syndrome, the brain, and tumor-necrosis-factor-alpha antagonists. 8 71
17360963 2007
3
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. 8 71
10199409 1999
4
Linkage of familial Hibernian fever to chromosome 12p13. 8 71
9585614 1998
5
Gene localization for an autosomal dominant familial periodic fever to 12p13. 8 71
9529351 1998
6
Autosomal dominant 'Mediterranean fever' in a Finnish family. 8 71
1402641 1992
7
Familial Hibernian fever. 8 71
7156325 1982
8
Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. 9 38 71
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. 9 38 71
11443543 2001
10
Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations. 9 38 8
11115159 2000
11
A new mutation causing autosomal dominant periodic fever syndrome in a Danish family. 38 8
12584543 2003
12
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. 8
16446975 2006
13
Hereditary periodic fever. 8
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. 71
10902757 2000
15
Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. 8
10412980 1999
16
Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group. 8
8190036 1994
17
Periodic fever: occurrence in five generations. 8
13458215 1957
18
A monoallelic double mutation as a cause for TNF receptor-associated periodic fever syndrome. 9 38
19547977 2010
19
A novel mutation in TNFRSF1A associated with overlapping features of tumor necrosis factor receptor-associated periodic syndrome and hyper-IgD syndrome. 9 38
20346247 2010
20
No regression of renal amyloid mass despite remission of nephrotic syndrome in a patient with TRAPS following etanercept therapy. 9 38
20091495 2010
21
[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)]. 9 38
19830438 2009
22
Differentiating PFAPA syndrome from monogenic periodic fevers. 9 38
19786432 2009
23
Idiopathic recurrent pericarditis refractory to colchicine treatment can reveal tumor necrosis factor receptor-associated periodic syndrome. 9 38
20074469 2009
24
Autoinflammatory syndromes: report on three cases. 9 38
20169282 2009
25
Autoinflammatory syndromes behind the scenes of recurrent fevers in children. 9 38
19644432 2009
26
Neurological manifestations of the Mendelian-inherited autoinflammatory syndromes. 9 38
19563585 2009
27
Proinflammatory action of the antiinflammatory drug infliximab in tumor necrosis factor receptor-associated periodic syndrome. 9 38
19180495 2009
28
Tumor necrosis factor receptor-associated periodic syndrome: toward a molecular understanding of the systemic autoinflammatory diseases. 9 38
19116899 2009
29
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. 9 38
19116900 2009
30
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) or familial Hibernian fever: presentation in a four-day-old infant. 9 38
18690165 2008
31
First report of rapidly progressive glomerulonephritis in tumor necrosis factor receptor-associated periodic syndrome. 9 38
18821681 2008
32
[First manifestation of psoriasis vulgaris in tumor necrosis factor receptor-associated periodic syndrome during treatment with etanercept]. 9 38
18210001 2008
33
Cell surface expression of TNFRI in tumor necrosis factor receptor-associated periodic syndrome: comment on the article by Nedjai et al. 9 38
18576329 2008
34
Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. 9 38
18438813 2008
35
Autoinflammatory diseases: clinical and genetic advances. 9 38
18347298 2008
36
[Tumor necrosis factor receptor-associated periodic syndrome]. 9 38
18341881 2008
37
Abnormal tumor necrosis factor receptor I cell surface expression and NF-kappaB activation in tumor necrosis factor receptor-associated periodic syndrome. 9 38
18163488 2008
38
Elevated CD16 expression by monocytes from patients with tumor necrosis factor receptor-associated periodic syndrome. 9 38
18050249 2007
39
Autoinflammatory syndromes with a dermatological perspective. 9 38
17727363 2007
40
Mutant tumor necrosis factor receptor associated with tumor necrosis factor receptor-associated periodic syndrome is altered antigenically and is retained within patients' leukocytes. 9 38
17665435 2007
41
Late-onset tumor necrosis factor receptor-associated periodic syndrome in multiple sclerosis patients carrying the TNFRSF1A R92Q mutation. 9 38
17665448 2007
42
Tumor necrosis factor receptor-associated periodic syndrome with a C30R mutation in a Japanese family. 9 38
17564788 2007
43
Tumor necrosis factor receptor-associated periodic syndrome mimicking systemic juvenile idiopathic arthritis. 9 38
17075277 2006
44
Modeling of tumor necrosis factor receptor superfamily 1A mutants associated with tumor necrosis factor receptor-associated periodic syndrome indicates misfolding consistent with abnormal function. 9 38
16871532 2006
45
AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: a report of two cases. 9 38
16732551 2006
46
Intestinal pseudo-obstruction as a manifestation of tumor necrosis factor receptor-associated periodic syndrome. 9 38
16865571 2006
47
Severe TNF receptor-associated periodic syndrome due to 2 TNFRSF1A mutations including a new F60V substitution. 9 38
16401480 2006
48
Hereditary periodic fever syndrome sans fever or distinct periodicity presenting with psychosis. 9 38
16371805 2005
49
Adrenal and gonadal hormone variations during a febrile attack in a woman with tumor necrosis factor receptor-associated periodic syndrome. 9 38
16030167 2005
50
Heterogeneity of tumor necrosis factor receptor-associated periodic syndrome: comment on the article by Siebert et al. 9 38
16142725 2005

Variations for Periodic Fever, Familial, Autosomal Dominant

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

6 (show top 50) (show all 141)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TNFRSF1A NM_001065.3(TNFRSF1A): c.185G> A (p.Cys62Tyr) single nucleotide variant Pathogenic rs104895218 12:6443265-6443265 12:6334099-6334099
2 TNFRSF1A NM_001065.3(TNFRSF1A): c.236C> T (p.Thr79Met) single nucleotide variant Pathogenic rs104895219 12:6442989-6442989 12:6333823-6333823
3 TNFRSF1A NM_001065.3(TNFRSF1A): c.175T> C (p.Cys59Arg) single nucleotide variant Pathogenic rs104895217 12:6443275-6443275 12:6334109-6334109
4 TNFRSF1A NM_001065.3(TNFRSF1A): c.242G> T (p.Cys81Phe) single nucleotide variant Pathogenic rs104895220 12:6442983-6442983 12:6333817-6333817
5 TNFRSF1A NM_001065.3(TNFRSF1A): c.349T> C (p.Cys117Arg) single nucleotide variant Pathogenic rs104895221 12:6442656-6442656 12:6333490-6333490
6 TNFRSF1A NM_001065.3(TNFRSF1A): c.350G> A (p.Cys117Tyr) single nucleotide variant Pathogenic rs104895222 12:6442655-6442655 12:6333489-6333489
7 TNFRSF1A NM_001065.3(TNFRSF1A): c.362G> C (p.Arg121Pro) single nucleotide variant Pathogenic rs4149584 12:6442643-6442643 12:6333477-6333477
8 TNFRSF1A NM_001065.3(TNFRSF1A): c.176G> C (p.Cys59Ser) single nucleotide variant Pathogenic rs104895223 12:6443274-6443274 12:6334108-6334108
9 TNFRSF1A TNFRSF1A, 3-BP DEL, NT211 deletion Pathogenic
10 TNFRSF1A NM_001065.3(TNFRSF1A): c.295T> A (p.Cys99Ser) single nucleotide variant Pathogenic rs104895228 12:6442930-6442930 12:6333764-6333764
11 TNFRSF1A TNFRSF1A, CYS55ALA undetermined variant Pathogenic
12 TNFRSF1A NM_001065.3(TNFRSF1A): c.295T> C (p.Cys99Arg) single nucleotide variant Pathogenic rs104895228 12:6442930-6442930 12:6333764-6333764
13 TNFRSF1A NM_001065.3(TNFRSF1A): c.123T> G (p.Asp41Glu) single nucleotide variant Pathogenic/Likely pathogenic rs104895271 12:6443327-6443327 12:6334161-6334161
14 TNFRSF1A NM_001065.3(TNFRSF1A): c.250T> C (p.Cys84Arg) single nucleotide variant Likely pathogenic rs104895253 12:6442975-6442975 12:6333809-6333809
15 TNFRSF1A NM_001065.3(TNFRSF1A): c.241T> C (p.Cys81Arg) single nucleotide variant Likely pathogenic rs104895232 12:6442984-6442984 12:6333818-6333818
16 TNFRSF1A NM_001065.3(TNFRSF1A): c.184T> G (p.Cys62Gly) single nucleotide variant Likely pathogenic rs104895225 12:6443266-6443266 12:6334100-6334100
17 TNFRSF1A NM_001065.3(TNFRSF1A): c.305G> A (p.Cys102Tyr) single nucleotide variant Likely pathogenic 12:6442920-6442920 12:6333754-6333754
18 TNFRSF1A NM_001065.3(TNFRSF1A): c.361C> T (p.Arg121Trp) single nucleotide variant Likely pathogenic rs104895276 12:6442644-6442644 12:6333478-6333478
19 SCNN1A ; TNFRSF1A NM_001065.3(TNFRSF1A): c.-233C> T single nucleotide variant Conflicting interpretations of pathogenicity rs45537340 12:6451213-6451213 12:6342047-6342047
20 TNFRSF1A NM_001065.3(TNFRSF1A): c.988G> A (p.Ala330Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200029309 12:6439013-6439013 12:6329847-6329847
21 TNFRSF1A NM_001065.3(TNFRSF1A): c.362G> A (p.Arg121Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs4149584 12:6442643-6442643 12:6333477-6333477
22 TNFRSF1A NM_001065.3(TNFRSF1A): c.282C> G (p.Asn94Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs876661014 12:6442943-6442943 12:6333777-6333777
23 TNFRSF1A NM_001065.3(TNFRSF1A): c.265T> C (p.Phe89Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs104895245 12:6442960-6442960 12:6333794-6333794
24 SCNN1A ; TNFRSF1A NM_001065.3(TNFRSF1A): c.-96C> T single nucleotide variant Conflicting interpretations of pathogenicity rs115164694 12:6451076-6451076 12:6341910-6341910
25 SCNN1A ; TNFRSF1A NM_001065.3(TNFRSF1A): c.-74G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200084924 12:6451054-6451054 12:6341888-6341888
26 TNFRSF1A NM_001065.3(TNFRSF1A): c.472+7G> T single nucleotide variant Uncertain significance rs200194581 12:6442526-6442526 12:6333360-6333360
27 TNFRSF1A NM_001065.3(TNFRSF1A): c.532G> A (p.Glu178Lys) single nucleotide variant Uncertain significance rs538872981 12:6442254-6442254 12:6333088-6333088
28 TNFRSF1A NM_001065.3(TNFRSF1A): c.*38C> T single nucleotide variant Uncertain significance rs200297634 12:6438440-6438440 12:6329274-6329274
29 TNFRSF1A NM_001065.3(TNFRSF1A): c.*357_*361GTTTT[5] short repeat Uncertain significance rs554776242 12:6438102-6438106 12:6328936-6328940
30 TNFRSF1A NM_001065.3(TNFRSF1A): c.176G> A (p.Cys59Tyr) single nucleotide variant Uncertain significance rs104895223 12:6443274-6443274 12:6334108-6334108
31 TNFRSF1A NM_001065.3(TNFRSF1A): c.473-16G> A single nucleotide variant Uncertain significance rs104895251 12:6442329-6442329 12:6333163-6333163
32 TNFRSF1A NM_001065.3(TNFRSF1A): c.370G> A (p.Val124Met) single nucleotide variant Uncertain significance rs104895278 12:6442635-6442635 12:6333469-6333469
33 TNFRSF1A NM_001065.3(TNFRSF1A): c.287T> C (p.Leu96Pro) single nucleotide variant Uncertain significance rs104895235 12:6442938-6442938 12:6333772-6333772
34 TNFRSF1A NM_001065.3(TNFRSF1A): c.243C> G (p.Cys81Trp) single nucleotide variant Uncertain significance rs56002980 12:6442982-6442982 12:6333816-6333816
35 TNFRSF1A NM_001065.3(TNFRSF1A): c.194-14G> A single nucleotide variant Uncertain significance rs104895241 12:6443045-6443045 12:6333879-6333879
36 TNFRSF1A NM_001065.3(TNFRSF1A): c.*178C> T single nucleotide variant Uncertain significance rs186356476 12:6438300-6438300 12:6329134-6329134
37 TNFRSF1A NM_001065.3(TNFRSF1A): c.*148C> T single nucleotide variant Uncertain significance rs543718521 12:6438330-6438330 12:6329164-6329164
38 TNFRSF1A NM_001065.3(TNFRSF1A): c.1356T> A (p.Ser452Arg) single nucleotide variant Uncertain significance rs886049750 12:6438490-6438490 12:6329324-6329324
39 TNFRSF1A NM_001065.3(TNFRSF1A): c.823C> T (p.Pro275Ser) single nucleotide variant Uncertain significance rs758118907 12:6439178-6439178 12:6330012-6330012
40 TNFRSF1A NM_001065.3(TNFRSF1A): c.1058-6C> G single nucleotide variant Uncertain significance rs761155688 12:6438794-6438794 12:6329628-6329628
41 TNFRSF1A NM_001065.3(TNFRSF1A): c.334G> A (p.Val112Met) single nucleotide variant Uncertain significance rs201753543 12:6442671-6442671 12:6333505-6333505
42 TNFRSF1A NM_001065.3(TNFRSF1A): c.1328G> T (p.Gly443Val) single nucleotide variant Uncertain significance rs201062001 12:6438518-6438518 12:6329352-6329352
43 TNFRSF1A NM_001065.3(TNFRSF1A): c.323-3C> G single nucleotide variant Uncertain significance rs1328399119 12:6442685-6442685 12:6333519-6333519
44 TNFRSF1A NM_001065.3(TNFRSF1A): c.650T> C (p.Val217Ala) single nucleotide variant Uncertain significance rs1555107565 12:6439853-6439853 12:6330687-6330687
45 TNFRSF1A NM_001065.3(TNFRSF1A): c.455G> C (p.Gly152Ala) single nucleotide variant Uncertain significance rs762635729 12:6442550-6442550 12:6333384-6333384
46 TNFRSF1A NM_001065.3(TNFRSF1A): c.269C> T (p.Thr90Ile) single nucleotide variant Uncertain significance rs34751757 12:6442956-6442956 12:6333790-6333790
47 TNFRSF1A NM_001065.3(TNFRSF1A): c.887G> C (p.Ser296Thr) single nucleotide variant Uncertain significance rs770324989 12:6439114-6439114 12:6329948-6329948
48 TNFRSF1A NM_001065.3(TNFRSF1A): c.1058-8C> G single nucleotide variant Uncertain significance rs764636915 12:6438796-6438796 12:6329630-6329630
49 TNFRSF1A NM_001065.3(TNFRSF1A): c.*394A> T single nucleotide variant Uncertain significance rs150426904 12:6438084-6438084 12:6328918-6328918
50 TNFRSF1A NM_001065.3(TNFRSF1A): c.*357_*361GTTTT[3] short repeat Uncertain significance rs554776242 12:6438102-6438106 12:6328936-6328940

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

74 (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

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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.67 TNFRSF1A TNF TMEM173 NLRP3 NLRP12 MEFV
2
Show member pathways
12.65 TNFRSF1B TNFRSF1A TNF LAT F2R
3
Show member pathways
12.39 TNFRSF1B TNFRSF1A TNF LAT
4 12.03 TNFRSF1B TNFRSF1A TNF
5
Show member pathways
11.98 TNFRSF1A TNF NLRP3
6
Show member pathways
11.9 TNFRSF1A TNF LAT
7 11.87 TNFRSF1B TNFRSF1A TNF LAT IL1RN
8
Show member pathways
11.76 TNFRSF1B TNFRSF1A TNF
9 11.74 TNFRSF1B TNFRSF1A TNF
10 11.66 TNFRSF1A TNF LAT
11
Show member pathways
11.5 TNFRSF1B TNFRSF1A TNF
12 11.45 TNFRSF1B TNFRSF1A TNF
13 11.31 TNFRSF1B TNFRSF1A TNF
14
Show member pathways
11.24 TNFRSF1B TNFRSF1A TNF
15 11.12 TNFRSF1B TNFRSF1A
16 11.11 NLRP3 NLRP12 MEFV
17 11.07 TNFRSF1B TNFRSF1A
18 10.96 NLRP3 F2R
19 10.91 TNFRSF1A TNF
20 10.84 TNFRSF1B TNFRSF1A TNF
21 10.61 TNFRSF1B TNFRSF1A TNF IL1RN

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 extracellular region GO:0005576 9.7 TNFRSF1B TNFRSF1A TNF SPINK5 NLRP3 IL1RN
2 membrane raft GO:0045121 9.26 TNFRSF1B TNFRSF1A TNF LAT
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 27)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.92 TNFRSF1B TNF LAT IL1RN
2 cytokine-mediated signaling pathway GO:0019221 9.88 TNFRSF1B TNFRSF1A TNF IL1RN
3 defense response GO:0006952 9.78 TNFRSF1A TNF NLRP3
4 positive regulation of inflammatory response GO:0050729 9.73 TNFRSF1A TNF NLRP12
5 tumor necrosis factor-mediated signaling pathway GO:0033209 9.71 TNFRSF1B TNFRSF1A TNF
6 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.71 TNFRSF1A TNF IL1RN F2R
7 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.69 TNFRSF1B TNFRSF1A TNF
8 cellular response to lipopolysaccharide GO:0071222 9.67 TNFRSF1B TNF NLRP3 IL1RN
9 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.63 TNFRSF1A TNF
10 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.63 TNFRSF1A TNF
11 positive regulation of interleukin-1 beta secretion GO:0050718 9.62 NLRP3 NLRP12
12 negative regulation of NIK/NF-kappaB signaling GO:1901223 9.61 NLRP3 NLRP12
13 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.61 TNF NLRP3 F2R
14 negative regulation of cardiac muscle hypertrophy GO:0010614 9.6 TNFRSF1B TNFRSF1A
15 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.59 TNF NLRP12
16 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.58 TNFRSF1B TNF
17 positive regulation of ceramide biosynthetic process GO:2000304 9.57 TNFRSF1A TNF
18 death-inducing signaling complex assembly GO:0071550 9.55 TNFRSF1A TNF
19 regulation of establishment of endothelial barrier GO:1903140 9.52 TNFRSF1A TNF
20 negative regulation of extracellular matrix constituent secretion GO:0003332 9.49 TNFRSF1B TNFRSF1A
21 aortic valve development GO:0003176 9.46 TNFRSF1B TNFRSF1A
22 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.46 TNF NLRP3 NLRP12 F2R
23 negative regulation of inflammatory response GO:0050728 9.43 TNFRSF1B TNFRSF1A NLRP3 NLRP12 MVK MEFV
24 pulmonary valve development GO:0003177 9.32 TNFRSF1B TNFRSF1A
25 positive regulation of apoptotic process involved in morphogenesis GO:1902339 9.26 TNFRSF1B TNFRSF1A
26 inflammatory response GO:0006954 9.23 TNFRSF1B TNFRSF1A TNF NLRP3 MEFV LAT
27 chronic inflammatory response to antigenic stimulus GO:0002439 9.18 TNF

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 9.35 TNF TMEM173 NLRP3 MVK MEFV
2 tumor necrosis factor-activated receptor activity GO:0005031 9.16 TNFRSF1B TNFRSF1A
3 tumor necrosis factor binding GO:0043120 8.62 TNFRSF1B TNFRSF1A
4 protein binding GO:0005515 10.03 TNFRSF1B TNFRSF1A TNF TMEM173 NLRP3 NLRP12

Sources for Periodic Fever, Familial, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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