FPF
MCID: PRD013
MIFTS: 67

Periodic Fever, Familial, Autosomal Dominant (FPF)

Categories: Blood diseases, Bone diseases, Eye diseases, Genetic diseases, Immune diseases, Muscle 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 20 72
Tumor Necrosis Factor Receptor-Associated Periodic Syndrome 57 20 43 72 36 54
Familial Hibernian Fever 57 12 20 43 58 72
Tnf Receptor-Associated Periodic Fever Syndrome 20 43 29 6 39
Traps 57 73 20 43 72
Fpf 57 20 43 72
Autosomal Dominant Familial Periodic Fever 12 43 15
Tnf Receptor-Associated Periodic Syndrome 57 20 72
Hibernian Fever, Familial 57 73 20
Fhf 57 20 72
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome 12 58
Tnf Receptor 1-Associated Periodic Syndrome 12 58
Periodic Fever, Familial 57 13
Tumor Necrosis Factor Receptor-Associated Periodic Syndrome; Traps 57
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome 70
Tnf Receptor Associated Periodic Syndrome 73
Hibernian Fever, Familial; Fhf 57
Familial Periodic Fever 6
Caledonian Fever 72
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®:

57 (Updated 05-Apr-2021)
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:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases
Rare immunological diseases


Summaries for Periodic Fever, Familial, Autosomal Dominant

MedlinePlus Genetics : 43 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 exanthem and cryopyrin-associated periodic syndrome. 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 Heparin and Dalteparin have been mentioned in the context of this disorder. Affiliated tissues include eye, neutrophil and endothelial, and related phenotypes are abdominal pain and myalgia

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.

GARD : 20 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® : 57 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) (Updated 05-Apr-2021)

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 : 72 Periodic fever, familial, autosomal dominant: 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 : 73 TNF receptor associated periodic syndrome (TRAPS) is a periodic fever syndrome associated with mutations... more...

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 727)
# Related Disease Score Top Affiliating Genes
1 exanthem 31.1 TNF NLRP3 MVK MEFV IL1B H2AC18
2 cryopyrin-associated periodic syndrome 31.0 NLRP3 IL1RN
3 relapsing fever 31.0 TNFRSF1A TNF MVK MEFV
4 idiopathic recurrent pericarditis 31.0 TNFRSF1A MEFV
5 stomatitis 31.0 TNF NLRP3 MEFV IL1B
6 appendicitis 31.0 TNF MPO IL1B
7 wells syndrome 30.9 TNFRSF1A NLRP3 MEFV IL1B
8 pericarditis 30.9 TNFRSF1A TNF MEFV IL1B
9 juvenile rheumatoid arthritis 30.9 TNFRSF1A TNF IL1RN IL1B
10 pharyngitis 30.9 TNF NLRP3 MVK MEFV IL1B
11 kawasaki disease 30.8 TNF IL1B ELANE
12 hereditary periodic fever syndrome 30.8 TNFRSF1A TNF NLRP3 MEFV
13 pustulosis of palm and sole 30.8 TNF PSTPIP1 IL1RN
14 aphthous stomatitis 30.8 TNF NLRP3 MEFV IL1RN IL1B
15 brucellosis 30.8 TNF MPO MEFV IL1RN
16 hyper-igd syndrome 30.8 TNFRSF1A MVK IL1RN
17 vasculitis 30.7 TNF MPO MEFV ELANE
18 gout 30.7 TNF NLRP3 MEFV IL1B
19 psoriatic arthritis 30.7 TNFRSF1A TNF IL1RN IL1B
20 periodontitis 30.7 TNF IL1RN IL1B ELANE
21 adult respiratory distress syndrome 30.6 TNF MPO IL1RN IL1B ELANE
22 peritonitis 30.6 TNF NLRP3 MPO MEFV IL1B ELANE
23 pneumonia 30.6 TNF MPO IL1B ELANE
24 pleurisy 30.5 TNF MPO MEFV IL1RN
25 conjunctivitis 30.5 TNF NLRP3 NLRP12 MPO
26 amyloidosis 30.5 TNFRSF1A TNF NLRP3 MEFV IL1B
27 necrotizing fasciitis 30.5 IL1RN IL1B H2AC18
28 otitis media 30.4 TNF MPO IL1B
29 disease by infectious agent 30.4 TNFRSF1A TNF IL1RN IL1B H2AC18
30 pulmonary disease, chronic obstructive 30.4 TNF MPO IL1B H2AC18 ELANE
31 trypanosomiasis 30.4 TNF IL1RN IL1B H2AC18
32 bacterial pneumonia 30.4 TNF IL1B H2AC18 ELANE
33 bacterial infectious disease 30.3 TNF IL1RN IL1B H2AC18 ELANE CASP1
34 toxic shock syndrome 30.3 TNF IL1RN IL1B
35 chorioamnionitis 30.3 TNF IL1RN IL1B ELANE
36 ulcerative colitis 30.3 TNF MPO IL1RN IL1B
37 mental depression 30.3 TNF IL1B H2AC18
38 pyoderma gangrenosum 30.3 TNF PSTPIP1 NLRP3 MVK MEFV
39 respiratory failure 30.3 TNF MPO IL1RN IL1B H2AC18 ELANE
40 proteasome-associated autoinflammatory syndrome 1 30.3 TNF NLRP3 MVK MPO MEFV IL1RN
41 keratitis, hereditary 30.2 TNF NLRP3 IL1B
42 mucocutaneous leishmaniasis 30.2 TNF MT-CYB H2AC18
43 listeriosis 30.2 TNF IL1B H2AC18
44 pyoderma 30.2 TNF PSTPIP1 NLRP3 MEFV IL1B
45 acute cystitis 30.2 TNF IL1B H2AC18
46 autoimmune disease 30.2 TNFRSF1A TNF PADI4 MPO LAT IL1RN
47 intermittent hydrarthrosis 30.2 TNFRSF1A MEFV
48 hydrarthrosis 30.2 TNFRSF1A MEFV
49 rheumatoid arthritis 30.2 TNFRSF1A TNF PADI4 MPO IL1RN IL1B
50 arthritis 30.2 TNFRSF1A TNF PSTPIP1 PADI4 NLRP3 MEFV

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:

58 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal pain 58 31 very rare (1%) Very frequent (99-80%) HP:0002027
2 myalgia 58 31 very rare (1%) Very frequent (99-80%) HP:0003326
3 pericarditis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001701
4 skin rash 58 31 hallmark (90%) Very frequent (99-80%) HP:0000988
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 very rare (1%) Very frequent (99-80%) HP:0001055
9 recurrent fever 58 31 very rare (1%) Very frequent (99-80%) HP:0001954
10 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
11 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
12 arthritis 58 31 frequent (33%) Frequent (79-30%) HP:0001369
13 vomiting 58 31 very rare (1%) Frequent (79-30%) HP:0002013
14 erythema 58 31 frequent (33%) Frequent (79-30%) HP:0010783
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 very rare (1%) 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 abnormal myocardium morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001637
23 vertigo 58 31 occasional (7.5%) Occasional (29-5%) HP:0002321
24 arthralgia 58 31 very rare (1%) Occasional (29-5%) HP:0002829
25 uveitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000554
26 cellulitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100658
27 paresthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003401
28 periorbital edema 58 31 very rare (1%) Occasional (29-5%) HP:0100539
29 migraine 58 31 occasional (7.5%) Occasional (29-5%) HP:0002076
30 chest pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0100749
31 recurrent pharyngitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100776
32 conjunctivitis 58 31 very rare (1%) Occasional (29-5%) HP:0000509
33 bruising susceptibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0000978
34 vasculitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002633
35 hypermelanotic macule 58 31 occasional (7.5%) Occasional (29-5%) HP:0001034
36 abnormality of the sacroiliac joint 58 31 occasional (7.5%) Occasional (29-5%) HP:0100781
37 fasciitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100537
38 myositis 58 31 very rare (1%) Occasional (29-5%) HP:0100614
39 peritonitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002586
40 hepatomegaly 31 very rare (1%) HP:0002240
41 gastrointestinal hemorrhage 31 very rare (1%) HP:0002239
42 chronic diarrhea 31 very rare (1%) HP:0002028
43 headache 31 very rare (1%) HP:0002315
44 bone pain 31 very rare (1%) HP:0002653
45 cervical lymphadenopathy 31 very rare (1%) HP:0025289
46 polyarticular arthritis 31 very rare (1%) HP:0005764
47 maculopapular exanthema 31 very rare (1%) HP:0040186
48 chronic constipation 31 very rare (1%) HP:0012450
49 conjunctival hyperemia 31 very rare (1%) HP:0030953
50 oligoarthritis 31 very rare (1%) HP:0040313

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.13 CASP1 ELANE IL1B IL1RN LAT LAT2
2 homeostasis/metabolism MP:0005376 10.03 BLOC1S1 CASP1 ELANE IL1B IL1RN LAT
3 immune system MP:0005387 9.8 CASP1 ELANE IL1B IL1RN LAT LAT2
4 mortality/aging MP:0010768 9.47 BLOC1S1 CASP1 ELANE IL1B IL1RN LAT

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 191)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational Phase 4 9005-49-6 772 9812414
2
Dalteparin Approved Phase 4 9005-49-6
3
Tinzaparin Approved Phase 4 9041-08-1, 9005-49-6 25244225
4 Certoparin Approved, Investigational Phase 4
5
Verteporfin Approved, Investigational Phase 4 129497-78-5
6
Thrombin Approved, Investigational Phase 4
7
Vorapaxar Approved Phase 4 618385-01-6
8
Rilonacept Approved, Investigational Phase 4 501081-76-1 104924
9
Ranibizumab Approved Phase 4 347396-82-1 459903
10
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
11 Anticoagulants Phase 4
12
Terephthalic acid Phase 4 100-21-0 7489
13 Heparin, Low-Molecular-Weight Phase 4
14 calcium heparin Phase 4
15 Fibrinolytic Agents Phase 4
16 Mitogens Phase 4
17 Endothelial Growth Factors Phase 4
18 Anti-Inflammatory Agents Phase 4
19 Pharmaceutical Solutions Phase 4
20 Immunologic Factors Phase 4
21 Vaccines Phase 4
22 Anesthetics Phase 4
23
tannic acid Approved Phase 3 1401-55-4
24
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
25
Colchicine Approved Phase 3 64-86-8 6167 2833
26 Calamus Phase 3
27 Dialysis Solutions Phase 3
28 Protamines Phase 3
29 Photosensitizing Agents Phase 3
30 Angiogenesis Inhibitors Phase 3
31
Fluorouracil Approved Phase 2 51-21-8 3385
32
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 5310940 9887054 43805 6857599
33
leucovorin Approved Phase 2 58-05-9 6006
34
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
35
Docetaxel Approved, Investigational Phase 1, Phase 2 114977-28-5 148124
36
Capecitabine Approved, Investigational Phase 2 154361-50-9 60953
37
Iodine Approved, Investigational Phase 2 7553-56-2 807
38
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
39
Topotecan Approved, Investigational Phase 2 123948-87-8, 119413-54-6 60700
40
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
41
Trastuzumab Approved, Investigational Phase 1, Phase 2 180288-69-1 9903
42
Pertuzumab Approved Phase 1, Phase 2 380610-27-5, 145040-37-5 2540
43
Olaparib Approved Phase 2 763113-22-0 23725625
44
Durvalumab Approved, Investigational Phase 2 1428935-60-7
45
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
46
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
47
Atezolizumab Approved, Investigational Phase 1, Phase 2 1380723-44-3
48
Hydroxychloroquine Approved Phase 1, Phase 2 118-42-3 3652
49
Clemastine Approved, Investigational Phase 1, Phase 2 15686-51-8 26987
50
Histamine Approved, Investigational Phase 1, Phase 2 51-45-6, 75614-87-8 774

Interventional clinical trials:

(show top 50) (show all 197)
# Name Status NCT ID Phase Drugs
1 MGuard vs bAre-metal Stents Plus Manual Thrombectomy in Real World STEMI Patients: a Prospective Multicenter Randomized Trial Unknown status NCT01124942 Phase 4
2 Randomized-Double Blind Trial to Assess the Incidence and Clinical Relevance of Heparin-Induced Thrombocytopenia (HIT) Antibodies in Trauma Patients Treated With Unfractionated or Low-Molecular Weight Heparin, the HIT-TRAP Trial Unknown status NCT00196417 Phase 4 Standard heparin (UFH) versus certoparin (LMWH)
3 Reassessment Study of The Effect of N-Acetylcystein on Quality of Life and Air Trapping During Rest and After Exercise Unknown status NCT00476736 Phase 4 Effect on small airways (N-Acetylcystein)
4 Efficacy of Intravitreal Aflibercept Monotherapy for Submacular Hemorrhage Secondary to Neovascular Age-Related Macular Degeneration: A Prospective Clinical Trial Completed NCT03169660 Phase 4 Vascular endothelial growth factor trap-eye
5 Vorapaxar in the Human Endotoxemia Model A Randomized, Double-Blind, Crossover Study Completed NCT02875028 Phase 4 Vorapaxar;Placebo
6 Intravitreal Aflibercept (VEGF Trap-Eye) in Neovascular Age-related Macular Degeneration With Limited Response to Ranibizumab Completed NCT02309281 Phase 4 aflibercept 2mg
7 An Open-Label Study of the Efficacy, Safety, and Tolerability of Intravitreal Administration of VEGF Trap-Eye (Intravitreal Aflibercept Injection) in Patients With Neovascular Age-Related Macular Degeneration Completed NCT01722045 Phase 4 Intravitreal Aflibercept Injection (IAI)
8 Efficacy and Safety of Intravitreal Vascular Endothelial Growth Factor Trap-eye in Patients With Polyploidal Choroidal Vasculopathy Completed NCT02072408 Phase 4 aflibercept
9 Interleukin-1 Trap to Treat Vascular Dysfunction in Chronic Kidney Disease (CKD) Completed NCT01663103 Phase 4 Rilonacept;Placebo
10 An Single Arm, Single Dose Study to Evaluate the Effect of Intravitreal Injection of VEGF-Trap Eye on Polypoidal Choroidal Vasculopathy Completed NCT01950741 Phase 4 aflibercept
11 Transmission Reduction and Prevention With HPV Vaccination (TRAP-HPV) Study: A Randomized Controlled Trial of the Efficacy of HPV Vaccination in Preventing Transmission of HPV Infection in Heterosexual Couples Recruiting NCT01824537 Phase 4
12 Early Versus Late Intervention for Twin Reversed Arterial Perfusion Sequence: an Open-label Randomized Controlled Trial: TRAPIST - TRAP Intervention STudy Recruiting NCT02621645 Phase 4
13 Estimation of MMP-8 Levels in GCF and Serum and Its Correlation With Wound Healing and Clinical Outcomes After Coronally Advanced Flap and Subepithelial Connective Tissue Graft for Root Coverage in Recession Defects: A CLINICO-BIOCHEMICAL STUDY Suspended NCT02863744 Phase 4
14 A Randomized Controlled Trial of Integrated Traditional Chinese and Western Medicine in the Treatment of Severe Community Acquired Pneumonia Unknown status NCT03185923 Phase 3 TCM plus conventional drug;TCM placebo plus conventional drug
15 Influence of Preoperative Hemodialysis or Intraoperative Modified Ultrafiltration on Postoperative Outcome for Patients With Severe Renal Dysfunction Undergoing Open Heart Surgery: Randomized, Controlled, Multicenter Clinical Trial Unknown status NCT00720967 Phase 3
16 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
17 A Randomized, Double-masked, Photodynamic Therapy-controlled Phase-3 Study of the Efficacy, Safety, and Tolerability of Intravitreal VEGF Trap-Eye in Chinese Subjects With Neovascular Age-Related Macular Degeneration Completed NCT01482910 Phase 3 Visudyne
18 A Randomized, Double Masked, Active Controlled, Phase III Study of the Efficacy and Safety of Repeated Doses of Intravitreal VEGF Trap Eye in Subjects With Diabetic Macular Edema Completed NCT01783886 Phase 3
19 A Randomized, Double Masked, Active Controlled, Phase III Study of the Efficacy and Safety of Repeated Doses of Intravitreal VEGF Trap-Eye in Subjects With Diabetic Macular Edema Completed NCT01331681 Phase 3
20 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
21 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
22 An Open-label Phase III Study Evaluating the Safety and Tolerability of Repeated Doses of Intravitreal VEGF Trap-Eye in Japanese Subjects With Diabetic Macular Edema Completed NCT01512966 Phase 3
23 Trial to Reduce Alloimmunization to Platelets (TRAP) Completed NCT00000589 Phase 3
24 A Phase-3, Multi-center, Randomized, Double-masked, Sham-controlled Study of the Efficacy, Safety, and Tolerability of Intravitreal VEGF Trap-Eye in Subjects With Choroidal Neovascularization Secondary to Pathologic Myopia Completed NCT01249664 Phase 3
25 An Open-label, Long-term, Safety and Tolerability Extension Study of Intravitreal VEGF Trap-Eye in Neovascular Age-Related Macular Degeneration Completed NCT00964795 Phase 3 Intravitreal Aflibercept Injection 2mg
26 Indwelling Pleural Catheter for Trapped Lung: a Pilot Study for Power Calculation of a Randomized Controlled Trial Comparing Pleurocath® Versus PleurX®) Completed NCT03550027 Phase 3
27 A Randomized, Double Masked, Active Controlled Phase III Study of the Efficacy, Safety, and Tolerability of Repeated Doses of Intravitreal VEGF Trap in Subjects With Neovascular Age-Related Macular Degeneration Completed NCT00509795 Phase 3
28 A Double-Masked, Randomized, Active-Controlled, Phase 3 Study of the Efficacy and Safety of Intravitreal Administration of VEGF Trap-Eye in Patients With Diabetic Macular Edema Completed NCT01363440 Phase 3 Intravitreal Aflibercept Injection (IAI; EYLEA®; BAY86-5321)
29 A Double-Masked, Randomized, Active-Controlled Study of the Efficacy, Safety, and Tolerability of Intravitreal Administration of VEGF Trap-Eye (Intravitreal Aflibercept Injection [IAI]) in Patients With Macular Edema Secondary to Branch Retinal Vein Occlusion Completed NCT01521559 Phase 3 Intravitreal Aflibercept Injection (IAI;EYLEA®;BAY86-5321)
30 A Randomized, Double Masked, Active Controlled, Phase 3 Study of the Efficacy, Safety, and Tolerability of Repeated Doses of Intravitreal VEGF Trap in Subjects With Neovascular Age-related Macular Degeneration (AMD) Completed NCT00637377 Phase 3 Ranibizumab
31 A Randomized, Double-masked, Sham-controlled Phase 3 Study of the Efficacy, Safety and Tolerability of Repeated Intravitreal Administration of VEGF Trap-Eye in Subjects With Macular Edema Secondary to Central Retinal Vein Occlusion (CRVO) Completed NCT01012973 Phase 3
32 A Randomized, Double Masked, Controlled Phase 3 Study of the Efficacy, Safety, and Tolerability of Repeated Intravitreal Administration of Vascular Endothelial Growth Factor Trap-Eye in Subjects With Macular Edema Secondary to Central Retinal Vein Occlusion Completed NCT00943072 Phase 3 Sham
33 A Phase II Study of the Combination of Aflibercept (VEGF-Trap) Plus Modified FOLFOX 6 in Patients With Previously Untreated Metastatic Colorectal Cancer Unknown status NCT01652196 Phase 2 oxaliplatin;leucovorin;fluorouracil
34 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
35 A Randomized, Controlled Study of the Safety, Tolerability and Biological Effect of Repeated Intravitreal Administration of VEGF Trap in Patients With Neovascular Age-Related Macular Degeneration Completed NCT00320788 Phase 2
36 A Phase I/IIa Sporozoite Challenge Study to Assess the Efficacy of Candidate Combination Malaria Vaccine Approaches Using the ChAd63 and MVA Vectors Encoding the Antigens ME-TRAP, CS and AMA1 Completed NCT01739036 Phase 1, Phase 2
37 A Phase I/IIa Sporozoite Challenge Study to Assess the Safety and Protective Efficacy of the Combination Malaria Vaccine Candidate Regimen of RTS,S/AS01B + ChAd63 and MVA Encoding ME-TRAP and Also RTS,S/AS01B Alone. Completed NCT01883609 Phase 1, Phase 2
38 A Phase I/IIa Sporozoite Challenge Study to Assess the Protective Efficacy of New Malaria Vaccine Candidates AdCh63 AMA1, MVA AMA1, AdCh63 MSP1, MVA MSP1, AdCh63 ME-TRAP & MVA ME-TRAP Completed NCT01142765 Phase 1, Phase 2
39 Efficacy Study of ChAd63-MVA ME-TRAP Prime-boost Vaccination Against Plasmodium Falciparum Infection Completed NCT01658696 Phase 2
40 Assessment of Protection Against Malaria by Sporozoite Challenge of Healthy Adults Vaccinated With AdCh63 ME-TRAP and MVA ME-TRAP Completed NCT00890760 Phase 1, Phase 2
41 A Phase 1/2b Double Blind Randomised Controlled Trial of the Efficacy, Safety and Immunogenicity of Heterologous Prime-boost Immunisation With the Candidate Malaria Vaccines ChAd63 ME-TRAP and MVA ME-TRAP in 5-17 Month Old Burkinabe Infants and Children Completed NCT01635647 Phase 1, Phase 2
42 A Phase I/IIa Sporozoite Challenge Study to Assess the Protective Efficacy of Two Prime-Boost Malaria Vaccine Candidates: ChAd63 and MVA Encoding ME-TRAP and the Same Viral Vectors Encoding CS Completed NCT01623557 Phase 1, Phase 2
43 Efficacy Study of ChAd63MVA ME-TRAP Prime-boost Vaccination Against Plasmodium Falciparum Infection. Completed NCT01666925 Phase 2
44 Phase I/II and Pharmacokinetic Study of Docetaxel Plus VEGF Trap (AVE0005, NSC# 724770) in Patients With Recurrent Ovarian, Primary Peritoneal, and Fallopian Tube Cancer Completed NCT00436501 Phase 1, Phase 2 docetaxel
45 OPTIMOX-aflibercept as First-line Therapy in 49 Patients With Unresectable Metastatic Colorectal Cancer. A GERCOR Feasibility Single-arm Phase II Study. Completed NCT01802684 Phase 2
46 A Phase I/IIa Sporozoite Challenge Study to Assess the Safety, Immunogenicity and Protective Efficacy of Intravenous Boosting With Malaria Vaccine Candidates ChAd63 and MVA Encoding ME-TRAP Completed NCT03707353 Phase 1, Phase 2
47 Radioembolization With Yttrium-90 Microspheres for Intermediate or Advanced HCC (Hepatocellular Carcinoma) Not Eligible to Curative Approach. A Phase II-b Study. Completed NCT00910572 Phase 2
48 A Phase II Study of VEGF Trap (NSC 724770) in Patients With Recurrent or Metastatic Transitional Carcinoma of the Urothelium Completed NCT00407485 Phase 2
49 A Phase 2 Study Evaluating the Efficacy of VEGF Trap in Patients With Recurrent Inoperable Stage III or Stage IV Melanoma Completed NCT00450255 Phase 2
50 Phase II Trial of VEGF Trap in Patients With Previously Treated Metastatic Colorectal Cancer Completed NCT00407654 Phase 2 aflibercept

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:

40
Eye, Neutrophil, Endothelial, Bone, Lung, Liver, Bone Marrow

Publications for Periodic Fever, Familial, Autosomal Dominant

Articles related to Periodic Fever, Familial, Autosomal Dominant:

(show top 50) (show all 231)
# 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. 57 6 54 61
11175303 2001
2
The tumor-necrosis-factor-associated periodic syndrome, the brain, and tumor-necrosis-factor-alpha antagonists. 57 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. 6 57
10199409 1999
4
Linkage of familial Hibernian fever to chromosome 12p13. 6 57
9585614 1998
5
Gene localization for an autosomal dominant familial periodic fever to 12p13. 57 6
9529351 1998
6
Autosomal dominant 'Mediterranean fever' in a Finnish family. 6 57
1402641 1992
7
Familial Hibernian fever. 57 6
7156325 1982
8
Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. 54 6 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. 54 61 6
11443543 2001
10
Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations. 61 54 57
11115159 2000
11
TNF receptor-associated periodic syndrome (TRAPS): description of a novel TNFRSF1A mutation and response to etanercept. 6 54
18408954 2008
12
Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications. 6 54
16508982 2006
13
A new mutation causing autosomal dominant periodic fever syndrome in a Danish family. 57 61
12584543 2003
14
Differential impact of high and low penetrance TNFRSF1A gene mutations on conventional and regulatory CD4+ T cell functions in TNFR1-associated periodic syndrome. 6
26598380 2016
15
Adult-onset tumour necrosis factor receptor-associated periodic syndrome presenting with refractory chronic arthritis. 6
25936627 2015
16
The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry. 6
23965844 2014
17
The expanding spectrum of low-penetrance TNFRSF1A gene variants in adults presenting with recurrent inflammatory attacks: clinical manifestations and long-term follow-up. 6
24393624 2014
18
Expanding spectrum of TNFRSF1A gene mutations among patients with idiopathic recurrent acute pericarditis. 6
23745996 2013
19
Symptoms related to tumor necrosis factor receptor 1-associated periodic syndrome, multiple sclerosis, and severe rheumatoid arthritis in patients carrying the TNF receptor superfamily 1A D12E/p.Asp41Glu mutation. 6
23322460 2013
20
[TRAPS: clinical significance of genotype. A report of two cases]. 6
20576331 2010
21
Tumour necrosis factor receptor-associated periodic syndrome caused by a rare mutation in the TNFRSF1A gene, and with excellent response to etanercept treatment. 6
19917181 2009
22
A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. 6
18512793 2008
23
Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS). 6
16684962 2006
24
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. 57
16446975 2006
25
A novel mutation of tumor necrosis factor receptor alpha type 1 associated with TRAPS and amyloidosis. 6
15216558 2004
26
Hereditary periodic fever. 57
11742050 2001
27
Periodic fever (TRAPS) caused by mutations in the TNFalpha receptor 1 (TNFRSF1A) gene of three German patients. 6
11722598 2001
28
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
29
Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. 57
10412980 1999
30
Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group. 57
8190036 1994
31
A description of two brothers with permanently raised non-esterified aetiocholanolone blood level. 57
4229818 1968
32
Periodic fever: occurrence in five generations. 57
13458215 1957
33
A monoallelic double mutation as a cause for TNF receptor-associated periodic fever syndrome. 61 54
19547977 2010
34
No regression of renal amyloid mass despite remission of nephrotic syndrome in a patient with TRAPS following etanercept therapy. 61 54
20091495 2010
35
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
36
[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)]. 54 61
19830438 2009
37
Differentiating PFAPA syndrome from monogenic periodic fevers. 61 54
19786432 2009
38
Idiopathic recurrent pericarditis refractory to colchicine treatment can reveal tumor necrosis factor receptor-associated periodic syndrome. 54 61
20074469 2009
39
Autoinflammatory syndromes: report on three cases. 54 61
20169282 2009
40
Autoinflammatory syndromes behind the scenes of recurrent fevers in children. 54 61
19644432 2009
41
Neurological manifestations of the Mendelian-inherited autoinflammatory syndromes. 61 54
19563585 2009
42
Proinflammatory action of the antiinflammatory drug infliximab in tumor necrosis factor receptor-associated periodic syndrome. 54 61
19180495 2009
43
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. 54 61
19116900 2009
44
Tumor necrosis factor receptor-associated periodic syndrome: toward a molecular understanding of the systemic autoinflammatory diseases. 61 54
19116899 2009
45
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) or familial Hibernian fever: presentation in a four-day-old infant. 54 61
18690165 2008
46
First report of rapidly progressive glomerulonephritis in tumor necrosis factor receptor-associated periodic syndrome. 54 61
18821681 2008
47
[First manifestation of psoriasis vulgaris in tumor necrosis factor receptor-associated periodic syndrome during treatment with etanercept]. 61 54
18210001 2008
48
Cell surface expression of TNFRI in tumor necrosis factor receptor-associated periodic syndrome: comment on the article by Nedjai et al. 54 61
18576329 2008
49
Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. 54 61
18438813 2008
50
Autoinflammatory diseases: clinical and genetic advances. 61 54
18347298 2008

Variations for Periodic Fever, Familial, Autosomal Dominant

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

6 (show top 50) (show all 207)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TNFRSF1A TNFRSF1A, 3-BP DEL, NT211 Deletion Pathogenic 12344 GRCh37:
GRCh38:
2 TNFRSF1A TNFRSF1A, CYS55ALA Variation Pathogenic 12346 GRCh37:
GRCh38:
3 TNFRSF1A NM_001065.4(TNFRSF1A):c.185G>A (p.Cys62Tyr) SNV Pathogenic 12335 rs104895218 GRCh37: 12:6443265-6443265
GRCh38: 12:6334099-6334099
4 TNFRSF1A NM_001065.4(TNFRSF1A):c.349T>C (p.Cys117Arg) SNV Pathogenic 12339 rs104895221 GRCh37: 12:6442656-6442656
GRCh38: 12:6333490-6333490
5 TNFRSF1A NM_001065.4(TNFRSF1A):c.350G>A (p.Cys117Tyr) SNV Pathogenic 12340 rs104895222 GRCh37: 12:6442655-6442655
GRCh38: 12:6333489-6333489
6 TNFRSF1A NM_001065.4(TNFRSF1A):c.362G>C (p.Arg121Pro) SNV Pathogenic 12341 rs4149584 GRCh37: 12:6442643-6442643
GRCh38: 12:6333477-6333477
7 TNFRSF1A NM_001065.4(TNFRSF1A):c.176G>C (p.Cys59Ser) SNV Pathogenic 12342 rs104895223 GRCh37: 12:6443274-6443274
GRCh38: 12:6334108-6334108
8 TNFRSF1A NM_001065.4(TNFRSF1A):c.295T>A (p.Cys99Ser) SNV Pathogenic 12345 rs104895228 GRCh37: 12:6442930-6442930
GRCh38: 12:6333764-6333764
9 TNFRSF1A NM_001065.4(TNFRSF1A):c.184T>G (p.Cys62Gly) SNV Pathogenic 12343 rs104895225 GRCh37: 12:6443266-6443266
GRCh38: 12:6334100-6334100
10 TNFRSF1A NM_001065.4(TNFRSF1A):c.236C>T (p.Thr79Met) SNV Pathogenic 12336 rs104895219 GRCh37: 12:6442989-6442989
GRCh38: 12:6333823-6333823
11 TNFRSF1A NM_001065.4(TNFRSF1A):c.175T>C (p.Cys59Arg) SNV Pathogenic 12337 rs104895217 GRCh37: 12:6443275-6443275
GRCh38: 12:6334109-6334109
12 TNFRSF1A NM_001065.4(TNFRSF1A):c.242G>T (p.Cys81Phe) SNV Pathogenic 12338 rs104895220 GRCh37: 12:6442983-6442983
GRCh38: 12:6333817-6333817
13 TNFRSF1A NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) SNV Pathogenic/Likely pathogenic 97643 rs104895271 GRCh37: 12:6443327-6443327
GRCh38: 12:6334161-6334161
14 TNFRSF1A NM_001065.4(TNFRSF1A):c.305G>A (p.Cys102Tyr) SNV Likely pathogenic 572070 rs1555108112 GRCh37: 12:6442920-6442920
GRCh38: 12:6333754-6333754
15 TNFRSF1A NM_001065.4(TNFRSF1A):c.361C>T (p.Arg121Trp) SNV Likely pathogenic 97694 rs104895276 GRCh37: 12:6442644-6442644
GRCh38: 12:6333478-6333478
16 TNFRSF1A NM_001065.4(TNFRSF1A):c.241T>C (p.Cys81Arg) SNV Likely pathogenic 97668 rs104895232 GRCh37: 12:6442984-6442984
GRCh38: 12:6333818-6333818
17 TNFRSF1A NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=) SNV Conflicting interpretations of pathogenicity 310107 rs201683984 GRCh37: 12:6438736-6438736
GRCh38: 12:6329570-6329570
18 TNFRSF1A NM_001065.4(TNFRSF1A):c.255G>C (p.Glu85Asp) SNV Conflicting interpretations of pathogenicity 566105 rs770439546 GRCh37: 12:6442970-6442970
GRCh38: 12:6333804-6333804
19 TNFRSF1A NM_001065.4(TNFRSF1A):c.269C>T (p.Thr90Ile) SNV Conflicting interpretations of pathogenicity 532185 rs34751757 GRCh37: 12:6442956-6442956
GRCh38: 12:6333790-6333790
20 TNFRSF1A NM_001065.3(TNFRSF1A):c.472+7G>T SNV Conflicting interpretations of pathogenicity 310112 rs200194581 GRCh37: 12:6442526-6442526
GRCh38: 12:6333360-6333360
21 TNFRSF1A NM_001065.4(TNFRSF1A):c.1206C>T (p.Ser402=) SNV Conflicting interpretations of pathogenicity 310106 rs148334665 GRCh37: 12:6438640-6438640
GRCh38: 12:6329474-6329474
22 TNFRSF1A NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) SNV Conflicting interpretations of pathogenicity 217017 rs4149584 GRCh37: 12:6442643-6442643
GRCh38: 12:6333477-6333477
23 TNFRSF1A NM_001065.4(TNFRSF1A):c.1328G>T (p.Gly443Val) SNV Conflicting interpretations of pathogenicity 450261 rs201062001 GRCh37: 12:6438518-6438518
GRCh38: 12:6329352-6329352
24 TNFRSF1A NM_001065.4(TNFRSF1A):c.645C>T (p.Pro215=) SNV Conflicting interpretations of pathogenicity 137680 rs147075345 GRCh37: 12:6439858-6439858
GRCh38: 12:6330692-6330692
25 TNFRSF1A NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=) SNV Conflicting interpretations of pathogenicity 97695 rs104895260 GRCh37: 12:6442636-6442636
GRCh38: 12:6333470-6333470
26 TNFRSF1A NM_001065.3(TNFRSF1A):c.472+6C>T SNV Uncertain significance 97705 rs104895277 GRCh37: 12:6442527-6442527
GRCh38: 12:6333361-6333361
27 TNFRSF1A NM_001065.3(TNFRSF1A):c.323-3C>G SNV Uncertain significance 463376 rs1328399119 GRCh37: 12:6442685-6442685
GRCh38: 12:6333519-6333519
28 TNFRSF1A NM_001065.3(TNFRSF1A):c.194-14G>A SNV Uncertain significance 97654 rs104895241 GRCh37: 12:6443045-6443045
GRCh38: 12:6333879-6333879
29 TNFRSF1A NM_001065.4(TNFRSF1A):c.887G>C (p.Ser296Thr) SNV Uncertain significance 546693 rs770324989 GRCh37: 12:6439114-6439114
GRCh38: 12:6329948-6329948
30 TNFRSF1A NM_001065.4(TNFRSF1A):c.370G>A (p.Val124Met) SNV Uncertain significance 97696 rs104895278 GRCh37: 12:6442635-6442635
GRCh38: 12:6333469-6333469
31 TNFRSF1A NM_001065.4(TNFRSF1A):c.265T>C (p.Phe89Leu) SNV Uncertain significance 97676 rs104895245 GRCh37: 12:6442960-6442960
GRCh38: 12:6333794-6333794
32 TNFRSF1A NM_001065.4(TNFRSF1A):c.282C>G (p.Asn94Lys) SNV Uncertain significance 234421 rs876661014 GRCh37: 12:6442943-6442943
GRCh38: 12:6333777-6333777
33 TNFRSF1A NM_001065.3(TNFRSF1A):c.1058-6C>G SNV Uncertain significance 234742 rs761155688 GRCh37: 12:6438794-6438794
GRCh38: 12:6329628-6329628
34 TNFRSF1A NM_001065.4(TNFRSF1A):c.434A>G (p.Asn145Ser) SNV Uncertain significance 97703 rs104895288 GRCh37: 12:6442571-6442571
GRCh38: 12:6333405-6333405
35 TNFRSF1A NM_001065.4(TNFRSF1A):c.315C>G (p.Cys105Trp) SNV Uncertain significance 572270 rs1565468122 GRCh37: 12:6442910-6442910
GRCh38: 12:6333744-6333744
36 TNFRSF1A NM_001065.4(TNFRSF1A):c.382A>G (p.Arg128Gly) SNV Uncertain significance 649500 rs1592047526 GRCh37: 12:6442623-6442623
GRCh38: 12:6333457-6333457
37 TNFRSF1A NM_001065.4(TNFRSF1A):c.1292T>C (p.Leu431Pro) SNV Uncertain significance 839449 GRCh37: 12:6438554-6438554
GRCh38: 12:6329388-6329388
38 TNFRSF1A NM_001065.4(TNFRSF1A):c.1038C>G (p.His346Gln) SNV Uncertain significance 811189 rs201994938 GRCh37: 12:6438963-6438963
GRCh38: 12:6329797-6329797
39 TNFRSF1A NM_001065.4(TNFRSF1A):c.997C>T (p.Pro333Ser) SNV Uncertain significance 856927 GRCh37: 12:6439004-6439004
GRCh38: 12:6329838-6329838
40 TNFRSF1A NM_001065.4(TNFRSF1A):c.810C>A (p.Asn270Lys) SNV Uncertain significance 938976 GRCh37: 12:6439191-6439191
GRCh38: 12:6330025-6330025
41 TNFRSF1A NM_001065.4(TNFRSF1A):c.644C>T (p.Pro215Leu) SNV Uncertain significance 941881 GRCh37: 12:6439859-6439859
GRCh38: 12:6330693-6330693
42 TNFRSF1A NM_001065.4(TNFRSF1A):c.949C>T (p.Pro317Ser) SNV Uncertain significance 944519 GRCh37: 12:6439052-6439052
GRCh38: 12:6329886-6329886
43 TNFRSF1A NM_001065.3(TNFRSF1A):c.596T>C (p.Ile199Thr) SNV Uncertain significance 234423 rs104895247 GRCh37: 12:6440048-6440048
GRCh38: 12:6330882-6330882
44 TNFRSF1A NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) SNV Uncertain significance 217017 rs4149584 GRCh37: 12:6442643-6442643
GRCh38: 12:6333477-6333477
45 TNFRSF1A NM_001065.4(TNFRSF1A):c.1312G>C (p.Glu438Gln) SNV Uncertain significance 998864 GRCh37: 12:6438534-6438534
GRCh38: 12:6329368-6329368
46 TNFRSF1A NM_001065.4(TNFRSF1A):c.687C>A (p.Phe229Leu) SNV Uncertain significance 513478 rs766811013 GRCh37: 12:6439816-6439816
GRCh38: 12:6330650-6330650
47 TNFRSF1A NM_001065.4(TNFRSF1A):c.80T>A (p.Val27Asp) SNV Uncertain significance 1003145 GRCh37: 12:6443370-6443370
GRCh38: 12:6334204-6334204
48 TNFRSF1A NM_001065.4(TNFRSF1A):c.632_633delinsAG (p.Thr211Lys) Indel Uncertain significance 1004144 GRCh37: 12:6439870-6439871
GRCh38: 12:6330704-6330705
49 TNFRSF1A NM_001065.4(TNFRSF1A):c.604G>A (p.Val202Ile) SNV Uncertain significance 1004791 GRCh37: 12:6440040-6440040
GRCh38: 12:6330874-6330874
50 TNFRSF1A NM_001065.4(TNFRSF1A):c.739+6_739+9del Deletion Uncertain significance 1005291 GRCh37: 12:6439755-6439758
GRCh38: 12:6330589-6330592

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

72 (show all 12)
# 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.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:

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 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.92 TNFRSF1A TNF PSTPIP1 NLRP3 MPO MEFV
2
Show member pathways
12.71 TNFRSF1A TNF NLRP3 IL1B CASP1
3
Show member pathways
12.65 TNFRSF1A TNF NLRP3 IL1B CASP1
4
Show member pathways
12.57 TNF NLRP3 NLRP12 IL1RN IL1B CASP1
5 12.38 TNFRSF1A TNF MPO LAT2 LAT IL1RN
6 12.28 TNFRSF1A TNF NLRP3 IL1B CASP1
7
Show member pathways
12.11 TNF NLRP3 IL1B CASP1
8
Show member pathways
11.96 TNFRSF1A TNF NLRP3 IL1B H2AC18 CASP1
9
Show member pathways
11.89 PSTPIP1 NLRP3 MEFV CASP1
10 11.83 TNFRSF1A TNF LAT IL1B
11 11.77 TNF NLRP3 MEFV LAT IL1B CASP1
12 11.61 TNF NLRP3 IL1B CASP1
13
Show member pathways
11.57 TNFRSF1A TNF IL1B
14 11.51 TNF IL1B CASP1
15 11.42 TNF MPO ELANE
16 11.42 TNF PSTPIP1 NLRP3 NLRP12 MEFV IL1B
17 11.36 TNFRSF1A TNF IL1RN IL1B
18 11.29 TNFRSF1A TNF CASP1
19 11 TNF IL1B CASP1
20 10.97 NLRP3 NLRP12 MEFV IL1B CASP1
21 10.78 TNF MPO IL1B
22 10.43 IL1B CASP1

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 9.81 TNFRSF1A TNF NLRP3 MPO IL1RN IL1B
2 membrane raft GO:0045121 9.26 TNFRSF1A TNF LAT2 LAT
3 NLRP3 inflammasome complex GO:0072559 8.62 NLRP3 CASP1

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 10.07 PSTPIP1 PADI4 NLRP3 MEFV LAT2 LAT
2 defense response to bacterium GO:0042742 9.92 TNFRSF1A TNF MPO ELANE
3 response to lipopolysaccharide GO:0032496 9.84 MPO IL1B ELANE CASP1
4 cellular response to lipopolysaccharide GO:0071222 9.83 TNF NLRP3 IL1B CASP1
5 cytokine-mediated signaling pathway GO:0019221 9.83 TNFRSF1A TNF IL1RN IL1B CASP1
6 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.8 TNF NLRP12 CASP1
7 positive regulation of interleukin-6 production GO:0032755 9.8 TNF SCIMP IL1B
8 defense response GO:0006952 9.8 TNFRSF1A TNF NLRP3 MPO
9 cellular response to mechanical stimulus GO:0071260 9.77 TNFRSF1A IL1B CASP1
10 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.76 TNF NLRP12 IL1B
11 positive regulation of interleukin-8 production GO:0032757 9.73 TNF IL1B ELANE
12 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.72 TNF NLRP3 CASP1
13 positive regulation of inflammatory response GO:0050729 9.62 TNFRSF1A TNF NLRP12 IL1B
14 positive regulation of ceramide biosynthetic process GO:2000304 9.61 TNFRSF1A TNF
15 positive regulation of neuroinflammatory response GO:0150078 9.61 TNF IL1B
16 death-inducing signaling complex assembly GO:0071550 9.58 TNFRSF1A TNF
17 vascular endothelial growth factor production GO:0010573 9.57 TNF IL1B
18 positive regulation of interleukin-1 beta production GO:0032731 9.56 TNF NLRP3 NLRP12 CASP1
19 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.54 TNF NLRP12 IL1B
20 positive regulation of fever generation GO:0031622 9.51 TNF IL1B
21 sequestering of triglyceride GO:0030730 9.48 TNF IL1B
22 response to yeast GO:0001878 9.46 MPO ELANE
23 negative regulation of inflammatory response GO:0050728 9.43 TNFRSF1A NLRP3 NLRP12 MVK MEFV ELANE
24 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.4 TNF IL1B
25 regulation of establishment of endothelial barrier GO:1903140 9.33 TNFRSF1A TNF IL1B
26 inflammatory response GO:0006954 9.23 TNFRSF1A TNF PSTPIP1 NLRP3 MEFV LAT

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.93 TNFRSF1A TNF SCIMP PSTPIP1 PADI4 NLRP3
2 identical protein binding GO:0042802 9.23 TNFRSF1A TNF PSTPIP1 PADI4 NLRP3 MVK

Sources for Periodic Fever, Familial, Autosomal Dominant

3 CDC
7 CNVD
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11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
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46 MGI
49 NCI
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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