FMF
MCID: FML018
MIFTS: 72

Familial Mediterranean Fever (FMF)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Familial Mediterranean Fever

MalaCards integrated aliases for Familial Mediterranean Fever:

Name: Familial Mediterranean Fever 56 12 74 24 52 25 58 36 29 54 6 43 15 71
Benign Paroxysmal Peritonitis 12 52 25 58
Fmf 56 52 25 58
Familial Paroxysmal Polyserositis 52 25 58
Recurrent Polyserositis 24 52 25
Periodic Fever Syndrome 58 6 71
Familial Mediterranean Fever, Autosomal Recessive 56 73
Familial Mediterranean Fever, Ar 56 13
Periodic Disease 52 58
Periodic Fever 52 71
Fever, Mediterranean, Familial, Autosomal Recessive 39
Hereditary Autoinflammatory Diseases 71
Polyserositis, Familial Paroxysmal 56
Benign Recurrent Polyserositis 58
Mediterranean Fever, Familial 74
Siegal-Cattan-Mamou Disease 25
Polyserositis, Recurrent 56
Reimann Periodic Disease 25
Wolff Periodic Disease 25
Periodic Peritonitis 52
Arfmf 73
Mef 25

Characteristics:

Orphanet epidemiological data:

58
familial mediterranean fever
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
prevalent in arabic, turkish, armenian, and sephardic jewish populations
onset often begins in childhood or adolescence
acute attacks lasting 24-48 hours
attack frequency may occur several times per week to once per year
see also autosomal dominant fmf , caused by heterozygous mutations in the mefv gene


HPO:

31
familial mediterranean fever:
Inheritance autosomal recessive inheritance


Classifications:

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


Summaries for Familial Mediterranean Fever

Genetics Home Reference : 25 Familial Mediterranean fever is an inherited condition characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. These episodes are often accompanied by fever and sometimes a rash or headache. Occasionally inflammation may occur in other parts of the body, such as the heart; the membrane surrounding the brain and spinal cord; and in males, the testicles. In about half of affected individuals, attacks are preceded by mild signs and symptoms known as a prodrome. Prodromal symptoms include mildly uncomfortable sensations in the area that will later become inflamed, or more general feelings of discomfort. The first episode of illness in familial Mediterranean fever usually occurs in childhood or the teenage years, but in some cases, the initial attack occurs much later in life. Typically, episodes last 12 to 72 hours and can vary in severity. The length of time between attacks is also variable and can range from days to years. During these periods, affected individuals usually have no signs or symptoms related to the condition. However, without treatment to help prevent attacks and complications, a buildup of protein deposits (amyloidosis) in the body's organs and tissues may occur, especially in the kidneys, which can lead to kidney failure.

MalaCards based summary : Familial Mediterranean Fever, also known as benign paroxysmal peritonitis, is related to familial cold autoinflammatory syndrome 2 and amyloidosis aa, and has symptoms including fever, arthralgia and abdominal pain. An important gene associated with Familial Mediterranean Fever is MEFV (MEFV Innate Immuity Regulator, Pyrin), and among its related pathways/superpathways are NOD-like receptor signaling pathway and Innate Immune System. The drugs Colchicine and Interleukin 1 Receptor Antagonist Protein have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and lung, and related phenotypes are nausea and vomiting and constipation

Disease Ontology : 12 An autoimmune hypersensitivity disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has material basis in mutations in the MEFV gene, which encodes the protein pyrin.

NIH Rare Diseases : 52 Familial Mediterranean fever (FMF) is an inherited condition characterized by episodes of painful inflammation of the abdominal lining (peritonitis ); the lining surrounding the lungs (pleurisy ); and the joints (arthralgia and occasionally arthritis ). These episodes are often accompanied by fever, and sometimes, a characteristic ankle rash. The first episode usually occurs during childhood or the teenage years. In some cases, the first episode occurs much later in life. Between episodes, people often do not have any symptoms. FMF usually is inherited in an autosomal recessive manner, caused by mutations in the MEFV gene . Treatment for FMF aims to control symptoms and often involves the use of a medication called colchicine . Without treatment, FMF can lead to kidney failure due to a buildup of certain protein deposits (amyloidosis ).

OMIM : 56 Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and inflammation in the peritoneum, synovium, or pleura, accompanied by pain. Amyloidosis with renal failure is a complication and may develop without overt crises (French FMF Consortium, 1997). See also autosomal dominant FMF (134610), which is caused by heterozygous mutation in the MEFV gene. (249100)

KEGG : 36 Familial Mediterranean fever (FMF) is the most prevalent hereditary periodic fever, affecting 0.1% in people of Mediterranean descent. It is also reported throughout the world's populations. FMF is an autosomal recessive disorder caused by missense mutations in the MEFV gene, which encodes the pyrin protein. Mutations in pyrin may lead to uncontrolled inflammation due to IL-1beta hyperactivation. FMF is characterized by recurrent inflammatory fevers with sterile peritonitis, pleuritis, arthritis, myalgia and erysipelas-like skin lesions. Renal amyloidosis is the most severe complication, leads to renal failure. These symptoms start before 20 years of age in about 90% of cases.

UniProtKB/Swiss-Prot : 73 Familial Mediterranean fever, autosomal recessive: A hereditary periodic fever syndrome characterized by recurrent episodic fever, serosal inflammation and pain in the abdomen, chest or joints. It is frequently complicated by reactive amyloidosis, which leads to renal failure and can be prophylactically treated with colchicine.

Wikipedia : 74 Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder. FMF is an autoinflammatory... more...

GeneReviews: NBK1227

Related Diseases for Familial Mediterranean Fever

Diseases in the Familial Mediterranean Fever family:

Familial Mediterranean Fever, Autosomal Dominant

Diseases related to Familial Mediterranean Fever via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 839)
# Related Disease Score Top Affiliating Genes
1 familial cold autoinflammatory syndrome 2 33.1 NLRP3 MVK MEFV
2 amyloidosis aa 33.0 SAA4 SAA2 SAA1 MEFV CRP
3 vasculitis 31.8 TNF MEFV IL6 CRP
4 polyarteritis nodosa 31.8 MEFV IL6 CRP
5 purpura 31.6 TNF MEFV IL6 CRP
6 peritonitis 31.4 TNF NLRP3 MEFV IL6 IL1B IL18
7 enthesopathy 31.4 TNF MEFV CRP
8 appendicitis 31.2 TNF IL6 IL1B CRP
9 periodontitis, chronic 31.1 IL6 IL1B
10 pleurisy 31.1 TNF MEFV IL1RN CRP
11 hereditary periodic fever syndrome 31.1 TNFRSF1A TNF NLRP3 MEFV
12 amyloidosis, familial visceral 31.1 SAA4 SAA1 MEFV
13 urticaria 31.0 TNF NLRP3 IL6 CRP
14 intestinal obstruction 31.0 NOD2 IL6 CRP
15 orchitis 31.0 TNF IL6 CRP
16 fibromyalgia 31.0 TNF IL6 IL1B CRP
17 end stage renal failure 30.9 TNF IL6 IL1RN IL1R1 CRP
18 spondyloarthropathy 30.9 TNF IL6 IL1B HLA-A
19 pericardial effusion 30.9 TNFRSF1A NLRP3 IL6 CRP
20 exanthem 30.9 TNF NLRP3 MEFV IL6 IL1RN CRP
21 idiopathic recurrent pericarditis 30.8 TNFRSF1A MEFV
22 streptococcal toxic-shock syndrome 30.8 TNF IL6
23 atherosclerosis susceptibility 30.8 TNF IL6 IL1B IL18 CRP
24 neuritis 30.8 TNF IL6 IL1B
25 bone resorption disease 30.8 TNF IL6 CRP
26 erysipeloid 30.8 PYCARD PSTPIP1 MEFV
27 schnitzler syndrome 30.8 PYCARD NLRP3 MVK IL1RN IL1R1 IL1B
28 collagen disease 30.7 TNF IL6 CRP
29 drug reaction with eosinophilia and systemic symptoms 30.7 TNF CRP
30 cold urticaria 30.7 NLRP3 IL1R1
31 esophagitis 30.7 TNF IL6 IL1B
32 thrombocytosis 30.7 IL6 IL1B CRP
33 kawasaki disease 30.7 TNF IL6 IL1B CRP
34 rheumatic heart disease 30.7 TNF IL6 IL1B
35 amyloidosis 30.6 TNFRSF1A TNF SAA4 SAA2 SAA1 NLRP3
36 tonsillitis 30.6 TNF IL6 IL1B
37 polyneuropathy 30.6 TNF IL6 IL1B CRP
38 fatty liver disease 30.6 TNF IL6 IL1B CRP
39 intestinal perforation 30.6 NOD2 IL6 CRP
40 crohn's colitis 30.6 TNF NOD2 IL1B
41 posterior scleritis 30.6 TNF CRP
42 fabry disease 30.6 TNF IL6 CRP
43 spondylitis 30.6 TNF SAA1 NOD2 IL6 IL1RN CRP
44 ileus 30.6 TNF IL6 IL1B CRP
45 placenta disease 30.6 TNF IL6 IL1B CRP
46 otitis media 30.5 TNF IL6 IL1B CRP
47 iridocyclitis 30.5 TNF IL6 CRP
48 acute cystitis 30.5 TNF IL6 IL18 CRP
49 stomatitis 30.5 TNF NLRP3 MEFV IL6 IL1RN IL1B
50 macrophage activation syndrome 30.5 TNFRSF1A TNF IL18

Graphical network of the top 20 diseases related to Familial Mediterranean Fever:



Diseases related to Familial Mediterranean Fever

Symptoms & Phenotypes for Familial Mediterranean Fever

Human phenotypes related to Familial Mediterranean Fever:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
2 constipation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002019
3 fever 58 31 hallmark (90%) Very frequent (99-80%) HP:0001945
4 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
5 abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002027
6 myalgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003326
7 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
8 proteinuria 58 31 frequent (33%) Frequent (79-30%) HP:0000093
9 erythema 58 31 frequent (33%) Frequent (79-30%) HP:0010783
10 chest pain 58 31 frequent (33%) Frequent (79-30%) HP:0100749
11 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
12 erysipelas 58 31 frequent (33%) Frequent (79-30%) HP:0001055
13 oral leukoplakia 58 31 frequent (33%) Frequent (79-30%) HP:0002745
14 pleuritis 58 31 frequent (33%) Frequent (79-30%) HP:0002102
15 osteoarthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002758
16 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
17 malabsorption 58 31 occasional (7.5%) Occasional (29-5%) HP:0002024
18 nephropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000112
19 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
20 ascites 58 31 occasional (7.5%) Occasional (29-5%) HP:0001541
21 myocardial infarction 58 31 occasional (7.5%) Occasional (29-5%) HP:0001658
22 skin rash 58 31 occasional (7.5%) Occasional (29-5%) HP:0000988
23 pericarditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001701
24 nephrotic syndrome 58 31 occasional (7.5%) Occasional (29-5%) HP:0000100
25 pancreatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001733
26 intestinal obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0005214
27 nephrocalcinosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000121
28 meningitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001287
29 acute hepatic failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0006554
30 vasculitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002633
31 gastrointestinal infarctions 58 31 occasional (7.5%) Occasional (29-5%) HP:0005244
32 lymphadenopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002716
33 peritonitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002586
34 orchitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100796
35 elevated erythrocyte sedimentation rate 58 31 occasional (7.5%) Occasional (29-5%) HP:0003565
36 pedal edema 31 occasional (7.5%) HP:0010741
37 arthritis 58 31 Frequent (79-30%) HP:0001369
38 hepatomegaly 31 HP:0002240
39 renal insufficiency 31 HP:0000083
40 leukocytosis 31 HP:0001974
41 edema of the lower limbs 58 Occasional (29-5%)
42 renal amyloidosis 31 HP:0001917
43 recurrent fever 31 HP:0001954

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Skeletal:
arthralgia
monarticular or oligoarticular arthritis

Cardiovascular Heart:
pericarditis

Neurologic Central Nervous System:
meningitis

Laboratory Abnormalities:
elevated erythrocyte sedimentation rate
prominent leukocytosis (30,000/ml)

Genitourinary External Genitalia Male:
tunica vaginalis inflammation (orchitis)

Abdomen Liver:
hepatomegaly

Abdomen Gastrointestinal:
abdominal pain
peritonitis

Genitourinary Kidneys:
nephrotic syndrome
renal amyloidosis
renal failure

Respiratory Lung:
pleuritis

Metabolic Features:
fever, episodic

Skin Nails Hair Skin:
transient painful erysipelas-like lesions on lower leg and ankle

Clinical features from OMIM:

249100

UMLS symptoms related to Familial Mediterranean Fever:


fever, arthralgia, abdominal pain

GenomeRNAi Phenotypes related to Familial Mediterranean Fever 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 9.88 CASP1 IL18 IL1B NLRP1 NLRP3 NOD2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.88 CASP1 IL18 IL1B NLRP1 NLRP3 NOD2

MGI Mouse Phenotypes related to Familial Mediterranean Fever:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.17 CASP1 IL18 IL1B IL1R1 IL1RN IL6
2 growth/size/body region MP:0005378 10.15 IL18 IL1B IL1R1 IL1RN IL6 MEFV
3 homeostasis/metabolism MP:0005376 10.13 CASP1 CRP IL18 IL1B IL1R1 IL1RN
4 immune system MP:0005387 10.03 CASP1 CRP IL18 IL1B IL1R1 IL1RN
5 digestive/alimentary MP:0005381 10.01 CASP1 IL18 IL6 NLRP3 NOD2 PYCARD
6 integument MP:0010771 9.65 CASP1 IL18 IL1B IL1R1 IL1RN IL6
7 neoplasm MP:0002006 9.17 CASP1 IL1B IL1R1 IL6 PYCARD TNF

Drugs & Therapeutics for Familial Mediterranean Fever

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Colchicine Approved Phase 3 64-86-8 6167 2833
2 Interleukin 1 Receptor Antagonist Protein Phase 3
3 Pharmaceutical Solutions Phase 3
4 Antimitotic Agents Phase 3
5 Antirheumatic Agents Phase 3
6 Immunoglobulin A Phase 3
7
Rilonacept Approved, Investigational Phase 2 501081-76-1 104924
8 Givinostat hydrochloride Phase 2
9 Histone Deacetylase Inhibitors Phase 2
10 Anti-Inflammatory Agents Phase 2
11 Antibodies, Monoclonal Phase 1, Phase 2
12 Immunologic Factors Phase 1, Phase 2
13 Immunoglobulins Phase 1, Phase 2
14 Antibodies Phase 1, Phase 2

Interventional clinical trials:

(show all 41)
# Name Status NCT ID Phase Drugs
1 The Comparison of the Efficacy of Once and Twice Daily Colchicine Dosage in Pediatric Patients With Familial Mediterranean Fever: A Randomized Trial Completed NCT02602028 Phase 4 colchicine
2 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
3 A Randomized Placebo-Controlled Study of the Efficacy and Safety of Kineret (Anakinra), in Adult Patients With Colchicine-Resistant Familial Mediterranean Fever Completed NCT01705756 Phase 3 Kineret
4 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
5 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
6 A Phase II/III Study of the Safety and Efficacy of NC-503 in Patients Suffering From Secondary (AA) Amyloidosis Completed NCT00035334 Phase 2, Phase 3 NC-503 (Anti-amyloidotic (AA) Agent)
7 Colchicine Cardiovascular Outcomes Trial (COLCOT) Completed NCT02551094 Phase 3 colchicine;colchicine placebo
8 Colchicine in Postoperative Fontan Patients (CPFP) Recruiting NCT03575572 Phase 2, Phase 3 Colchicine
9 Evaluation of Efficacy of Colchicine to Prevent Skin Relapses in Adult's IgA Vasculitis Not yet recruiting NCT04008316 Phase 3 Colchicine
10 Controlled Ceasing of Colchicine Therapy in Familial Mediterranean Fever (FMF) Patients With Single MEFV (Mediterranean Fever) Gene Mutation Unknown status NCT02175589 Phase 2
11 The Effects and Side Effects of ITS2357 in Autoinflammatory Syndromes Unknown status NCT00442182 Phase 2 ITF2357
12 The Effect of Colchicine Treatment on the Progression of Proteinuria in Patients With Diabetic Nephropathy. Unknown status NCT02442921 Phase 1, Phase 2 Colchicine;Placebo
13 An Open-label, Exploratory Study to Establish the Safety and Efficacy of 3 Months Treatment With Canakinumab in Patients With Colchicine Resistant Familial Mediterranean Fever Completed NCT01088880 Phase 2 Canakinumab
14 A 6 Month Phase 2, Multi-Center, Open-label, Single Arm Study to Evaluate the Safety and Efficacy of Treatment With Canakinumab in Pediatric Patients With Colchicine Intolerant or Colchicine Resistant Familial Mediterranean Fever Completed NCT01148797 Phase 2 Canakinumab
15 Phase 2 Study of IL-1 Trap (Rilonacept) for Treatment of Familial Mediterranean Fever (FMF) Completed NCT00582907 Phase 2 Rilonacept;Placebo
16 Continuation of a Pilot Open-Label Study of IL 1 Trap in Adult Subjects With Autoinflammatory Diseases: A Therapeutic Approach to Study Pathogenesis Completed NCT00094900 Phase 2 IL-1 Trap
17 An Open-label, Multicenter, Efficacy and Safety Study of 4-month Canakinumab Treatment With 6-month Follow-up in Patients With Active Recurrent or Chronic TNF-receptor Associated Periodic Syndrome (TRAPS). Completed NCT01242813 Phase 2 ACZ885
18 Ilaris (Canakinumab) in the Schnitzler Syndrome. A Case Series. Completed NCT01245127 Phase 2 Ilaris
19 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]
20 Tocilizumab for the Treatment of Familial Mediterranean Fever - A Randomized, Doubleblind, Phase II Proof of Concept Study Recruiting NCT03446209 Phase 2 Tocilizumab Infusion RoAcemtra (EU);0.9% physiological saline
21 Effects of Probiotic Addition to Corticosteroid Treatment for PFAPA Withdrawn NCT02535962 Phase 2
22 An Open-label, Parallel-group, Multiple-Dose, Pharmacokinetic and Safety Study of Colchicine Pediatric Formulation in Pediatric and Adult Patients With FMF Completed NCT01075906 Phase 1 colchicine sprinkle capsules;colchicine sprinkle capsules
23 Ilaris (Canakinumab) in Patient With Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis (PFAPA) Recruiting NCT02775994 Phase 1 Canakinumab
24 Exertional Muscle Fatigue In FMF Patients Evaluated By MRI And MR Spectroscopy Of The Thigh Unknown status NCT00658060
25 Association Between Basal Proteinuria Levels and Pregnancy Outcomes in Familial Mediterranean Fever Unknown status NCT02092064
26 Life Quality Study for PFAPA Patient Unknown status NCT02811705
27 Progression of Renal Amyloidosis of FMF and Relation to Serum SAA Level Unknown status NCT01168570
28 Gluten-related Disorders in Patients Affected With Familial Mediterranean Fever Completed NCT03563300
29 Recurrent AA Amyloidosis After Renal Transplantation: Effects on Allograft Survival Completed NCT02704065
30 Genetics and Pathophysiology of Autoinflammatory Disorders. Recruiting NCT00001373
31 Clinical and Multi-omics Cross-phenotyping of Patients With Autoimmune and Auto-inflammatory Diseases Recruiting NCT02466217
32 Tonsillotomy or Follow-up in PFAPA -Syndrome - Randomised, Controlled Study Using Sequential Design Recruiting NCT03331497
33 The MUPPET-study: Multicenter Pheochromocytoma and Paraganglioma Evaluation for Follow-up Screening, Genetics Sub-Typing, Therapy and Outcome Recruiting NCT03344016
34 Creation of a Tool to Assess Quality of Life in Patient With Auto-inflammatory Diseases Active, not recruiting NCT03569644
35 Heat Intolerance in the Group of FMF Patients Enrolling by invitation NCT01059279
36 Assessment of a Functional Test to Detect Familial Mediterranean Fever Not yet recruiting NCT03747315
37 Musculoskeletal Ultrasound of the Ankles in Erysipelas-like Erythema of Familial Mediterranean Fever Not yet recruiting NCT03917277
38 Immunome Project Consortium for Autoinflammatory Disorders Not yet recruiting NCT03919110
39 Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency Terminated NCT00260299
40 The Effect of Probiotics on Response to Therapy and on Adverse Effect in Patients Treated With Colchicine for Familial Mediterranean Fever. Withdrawn NCT02021084
41 Inflammatory Proteins in Familial Mediterranean Fever During Attack and Remission Withdrawn NCT00323440

Search NIH Clinical Center for Familial Mediterranean Fever

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Colchicine

Cochrane evidence based reviews: familial mediterranean fever

Genetic Tests for Familial Mediterranean Fever

Genetic tests related to Familial Mediterranean Fever:

# Genetic test Affiliating Genes
1 Familial Mediterranean Fever 29 MEFV

Anatomical Context for Familial Mediterranean Fever

MalaCards organs/tissues related to Familial Mediterranean Fever:

40
Kidney, Heart, Lung, Bone, Skin, Neutrophil, Brain

Publications for Familial Mediterranean Fever

Articles related to Familial Mediterranean Fever:

(show top 50) (show all 3261)
# Title Authors PMID Year
1
MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever. 54 61 24 56 6
19863562 2009
2
Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. 61 24 56 6
10090880 1999
3
Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. 61 24 56 6
9288758 1997
4
A candidate gene for familial Mediterranean fever. 61 56 6
9288094 1997
5
Dominant inheritance in two families with familial Mediterranean fever (FMF). 61 56 6
7677151 1995
6
Evidence-based recommendations for the practical management of Familial Mediterranean Fever. 61 24 6
23742958 2013
7
Familial mediterranean Fever in the world. 61 24 6
19790133 2009
8
MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients. 61 24 6
16255051 2005
9
Inflammatory bowel disease in non-Ashkenazi Jews with familial Mediterranean fever. 61 24 56
10665562 2000
10
The spectrum of familial Mediterranean fever gene mutations in Arabs: report of a large series. 54 61 6
15942916 2005
11
The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. 54 61 56
11468188 2001
12
Direct detection of common mutations in the familial Mediterranean fever gene (MEFV) using naturally occurring and primer mediated restriction fragment analysis. Mutation in brief no. 257. Online. 54 61 6
10447272 1999
13
Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF). 54 61 6
9668175 1998
14
Localization of the familial Mediterranean fever gene (FMF) to a 250-kb interval in non-Ashkenazi Jewish founder haplotypes. The French FMF Consortium. 54 61 56
8751861 1996
15
Exclusion of linkage between familial Mediterranean fever and the human serum amyloid A (SAA) gene cluster. 54 61 56
1679035 1991
16
Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever. 61 6
25628446 2015
17
Molecular evaluation of 458 patients referred with a clinical diagnosis of familial Mediterranean fever in Scandinavia. 61 6
20721559 2011
18
Comprehensive analysis of a large-scale screen for MEFV gene mutations: do they truly provide a "heterozygote advantage" in Turkey? 61 6
21413889 2011
19
Screening for the M694V mutation of the familial Mediterranean fever (FMF) gene in 604 French patients. 61 6
21290976 2010
20
Unresponsiveness to colchicine therapy in patients with familial Mediterranean fever homozygous for the M694V mutation. 54 61 24
20008920 2010
21
Increased serum concentrations of homocysteine and lipoprotein (a) in familial Mediterranean fever. 54 61 24
20124324 2010
22
Differentiating PFAPA syndrome from monogenic periodic fevers. 54 61 24
19786432 2009
23
Presentation of familial Mediterranean fever in a heterozygous MEFV mutation triggered by immunosuppressive therapy for myelodysplastic syndrome. 54 61 24
19466506 2009
24
Clinical disease among patients heterozygous for familial Mediterranean fever. 54 61 24
19479871 2009
25
Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres. 54 61 24
18648395 2008
26
The population genetics of familial mediterranean fever: a meta-analysis study. 61 56
18691160 2008
27
Transmission of familial Mediterranean fever mutations following bone marrow transplantation. 61 56
17661824 2007
28
An unexpectedly high frequency of MEFV mutations in patients with anti-citrullinated protein antibody-negative palindromic rheumatism. 61 6
17665427 2007
29
The contribution of genotypes at the MICA gene triplet repeat polymorphisms and MEFV mutations to amyloidosis and course of the disease in the patients with familial Mediterranean fever. 54 61 24
17102945 2007
30
Common FMF alleles may predispose to development of Behcet's disease with increased risk for venous thrombosis. 54 61 24
17454935 2007
31
Increased frequency of mutations in the gene responsible for familial Mediterranean fever (MEFV) in a cohort of patients with ulcerative colitis: evidence for a potential disease-modifying effect? 54 61 24
16614989 2006
32
Familial mediterranean fever in Arabs. 61 56
16564365 2006
33
Severe disease in patients with rheumatoid arthritis carrying a mutation in the Mediterranean fever gene. 54 61 24
15958759 2005
34
A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder? 61 6
14679589 2004
35
Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean fever. 61 6
12929299 2003
36
Analysis of the modifying effects of SAA1, SAA2 and TNF-alpha gene polymorphisms on development of amyloidosis in FMF patients. 54 61 24
14696796 2003
37
Allogenic bone marrow transplantation: not a treatment yet for familial Mediterranean fever. 61 56
12814918 2003
38
The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever. 54 61 24
12687559 2003
39
Serum amyloid A1 and tumor necrosis factor-alpha alleles in Turkish familial Mediterranean fever patients with and without amyloidosis. 54 61 24
12762136 2003
40
Allogeneic bone marrow transplantation: cure for familial Mediterranean fever. 61 56
12130485 2002
41
The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever. 54 61 24
11938447 2002
42
Familial Mediterranean fever: the potential for misdiagnosis of E148V using the E148Q usual RFLP detection method. 61 6
11903360 2002
43
Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population. 61 6
11464248 2001
44
The spectrum of Familial Mediterranean Fever (FMF) mutations. 61 6
11464238 2001
45
Incidence of familial Mediterranean fever (FMF) mutations among children of Mediterranean extraction with functional abdominal pain. 61 56
11343058 2001
46
Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states. 61 6
11242116 2001
47
Amyloidosis induced, end stage renal disease in patients with familial Mediterranean fever is highly associated with point mutations in the MEFV gene. 54 61 24
11156548 2001
48
The MICA region determines the first modifier locus in familial Mediterranean fever. 54 61 24
11212154 2001
49
Familial Mediterranean Fever 61 6
20301405 2000
50
The genetic basis of autosomal dominant familial Mediterranean fever. 61 6
10787449 2000

Variations for Familial Mediterranean Fever

ClinVar genetic disease variations for Familial Mediterranean Fever:

6 (show top 50) (show all 301) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MEFV NM_000243.2(MEFV):c.2040G>C (p.Met680Ile)SNV Pathogenic 36507 rs28940580 16:3293447-3293447 16:3243447-3243447
2 MEFV NM_001198536.1(MEFV):c.277+2125dupduplication Pathogenic 650911 16:3304183-3304184 16:3254183-3254184
3 MEFV NM_000243.2(MEFV):c.490A>T (p.Lys164Ter)SNV Pathogenic 664924 16:3304578-3304578 16:3254578-3254578
4 MEFV NM_000243.2(MEFV):c.65del (p.Glu22fs)deletion Pathogenic 644049 16:3306523-3306523 16:3256523-3256523
5 MEFV NM_001198536.1(MEFV):c.*246_*247CT[1]short repeat Likely pathogenic 577934 rs1355225244 16:3293442-3293443 16:3243442-3243443
6 MEFV NM_000243.2(MEFV):c.1780C>T (p.Gln594Ter)SNV Likely pathogenic 527802 rs780770024 16:3293872-3293872 16:3243872-3243872
7 MEFV NM_000243.2(MEFV):c.277+1G>TSNV Likely pathogenic 568646 rs1328913013 16:3306310-3306310 16:3256310-3256310
8 MEFV NM_000243.2(MEFV):c.2038A>C (p.Met680Leu)SNV Likely pathogenic 97480 rs104895089 16:3293449-3293449 16:3243449-3243449
9 MEFV NM_001198536.1(MEFV):c.*280_*282deldeletion Conflicting interpretations of pathogenicity 97485 rs104895093 16:3293409-3293411 16:3243409-3243411
10 MEFV NM_000243.2(MEFV):c.2337G>C (p.Gly779=)SNV Conflicting interpretations of pathogenicity 97510 rs104895153 16:3293150-3293150 16:3243150-3243150
11 MEFV NM_000243.2(MEFV):c.1370C>T (p.Ala457Val)SNV Conflicting interpretations of pathogenicity 97441 rs104895151 16:3297233-3297233 16:3247233-3247233
12 MEFV NM_000243.2(MEFV):c.1894G>A (p.Gly632Ser)SNV Conflicting interpretations of pathogenicity 97467 rs104895128 16:3293593-3293593 16:3243593-3243593
13 MEFV NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr)SNV Conflicting interpretations of pathogenicity 36506 rs11466045 16:3293880-3293880 16:3243880-3243880
14 MEFV NM_000243.2(MEFV):c.910G>A (p.Gly304Arg)SNV Conflicting interpretations of pathogenicity 36513 rs75977701 16:3304158-3304158 16:3254158-3254158
15 MEFV NM_000243.2(MEFV):c.97G>T (p.Val33Leu)SNV Conflicting interpretations of pathogenicity 36516 rs11466016 16:3306491-3306491 16:3256491-3256491
16 MEFV NM_000243.2(MEFV):c.2060G>A (p.Gly687Asp)SNV Conflicting interpretations of pathogenicity 56148 rs387907570 16:3293427-3293427 16:3243427-3243427
17 MEFV NM_000243.2(MEFV):c.1043G>A (p.Arg348His)SNV Conflicting interpretations of pathogenicity 97428 rs104895198 16:3299648-3299648 16:3249648-3249648
18 MEFV NM_000243.2(MEFV):c.1261-11T>GSNV Conflicting interpretations of pathogenicity 97438 rs77086855 16:3299015-3299015 16:3249015-3249015
19 MEFV NM_000243.2(MEFV):c.124C>T (p.Arg42Trp)SNV Conflicting interpretations of pathogenicity 234347 rs61754767 16:3306464-3306464 16:3256464-3256464
20 MEFV NM_000243.2(MEFV):c.2080A>G (p.Met694Val)SNV Conflicting interpretations of pathogenicity 2538 rs61752717 16:3293407-3293407 16:3243407-3243407
21 MEFV NM_000243.2(MEFV):c.442G>C (p.Glu148Gln)SNV Conflicting interpretations of pathogenicity 2542 rs3743930 16:3304626-3304626 16:3254626-3254626
22 MEFV NM_000243.2(MEFV):c.2082G>A (p.Met694Ile)SNV Conflicting interpretations of pathogenicity 2539 rs28940578 16:3293405-3293405 16:3243405-3243405
23 MEFV NM_000243.2(MEFV):c.2177T>C (p.Val726Ala)SNV Conflicting interpretations of pathogenicity 2540 rs28940579 16:3293310-3293310 16:3243310-3243310
24 MEFV NM_000243.2(MEFV):c.501G>C (p.Glu167Asp)SNV Conflicting interpretations of pathogenicity 2543 rs104895079 16:3304567-3304567 16:3254567-3254567
25 MEFV NM_000243.2(MEFV):c.800C>T (p.Thr267Ile)SNV Conflicting interpretations of pathogenicity 2544 rs104895081 16:3304268-3304268 16:3254268-3254268
26 MEFV NM_000243.2(MEFV):c.1437C>G (p.Phe479Leu)SNV Conflicting interpretations of pathogenicity 2545 rs104895083 16:3297166-3297166 16:3247166-3247166
27 MEFV NM_000243.2(MEFV):c.2084A>G (p.Lys695Arg)SNV Conflicting interpretations of pathogenicity 2547 rs104895094 16:3293403-3293403 16:3243403-3243403
28 MEFV NM_000243.2(MEFV):c.2230G>T (p.Ala744Ser)SNV Conflicting interpretations of pathogenicity 2548 rs61732874 16:3293257-3293257 16:3243257-3243257
29 MEFV NM_000243.2(MEFV):c.2282G>A (p.Arg761His)SNV Conflicting interpretations of pathogenicity 2549 rs104895097 16:3293205-3293205 16:3243205-3243205
30 MEFV NM_000243.2(MEFV):c.2040G>A (p.Met680Ile)SNV Conflicting interpretations of pathogenicity 2550 rs28940580 16:3293447-3293447 16:3243447-3243447
31 MEFV NM_000243.2(MEFV):c.1105C>T (p.Pro369Ser)SNV Conflicting interpretations of pathogenicity 2551 rs11466023 16:3299586-3299586 16:3249586-3249586
32 MEFV NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln)SNV Conflicting interpretations of pathogenicity 2552 rs11466024 16:3299468-3299468 16:3249468-3249468
33 MEFV NM_000243.2(MEFV):c.1958G>A (p.Arg653His)SNV Conflicting interpretations of pathogenicity 2553 rs104895085 16:3293529-3293529 16:3243529-3243529
34 MEFV NM_001198536.1(MEFV):c.*90dupduplication Conflicting interpretations of pathogenicity 234364 rs876660997 16:3293600-3293601 16:3243600-3243601
35 MEFV NM_001198536.1(MEFV):c.*282_*284TGA[1]short repeat Conflicting interpretations of pathogenicity 2556 rs104895091 16:3293404-3293406 16:3243404-3243406
36 MEFV NM_000243.2(MEFV):c.436C>T (p.Gln146Ter)SNV Conflicting interpretations of pathogenicity 234352 rs876660990 16:3304632-3304632 16:3254632-3254632
37 MEFV NM_000243.2(MEFV):c.1318C>G (p.Gln440Glu)SNV Conflicting interpretations of pathogenicity 36499 rs11466026 16:3298947-3298947 16:3248947-3248947
38 MEFV NM_000243.2(MEFV):c.1803T>A (p.Ile601=)SNV Conflicting interpretations of pathogenicity 319108 rs779572391 16:3293684-3293684 16:3243684-3243684
39 MEFV NM_000243.2(MEFV):c.66G>A (p.Glu22=)SNV Conflicting interpretations of pathogenicity 319119 rs569040282 16:3306522-3306522 16:3256522-3256522
40 MEFV NM_000243.2(MEFV):c.564C>T (p.Pro188=)SNV Conflicting interpretations of pathogenicity 319116 rs775755423 16:3304504-3304504 16:3254504-3254504
41 MEFV NM_000243.2(MEFV):c.289C>T (p.Gln97Ter)SNV Conflicting interpretations of pathogenicity 319117 rs747515115 16:3304779-3304779 16:3254779-3254779
42 MEFV NM_000243.2(MEFV):c.-15C>GSNV Conflicting interpretations of pathogenicity 319120 rs11466015 16:3306602-3306602 16:3256602-3256602
43 MEFV NM_000243.2(MEFV):c.2292G>T (p.Gly764=)SNV Conflicting interpretations of pathogenicity 378133 rs142352887 16:3293195-3293195 16:3243195-3243195
44 MEFV NM_000243.2(MEFV):c.250G>A (p.Glu84Lys)SNV Conflicting interpretations of pathogenicity 632250 rs150819742 16:3306338-3306338 16:3256338-3256338
45 MEFV NM_000243.2(MEFV):c.297C>T (p.Asn99=)SNV Conflicting interpretations of pathogenicity 97514 rs104895175 16:3304771-3304771 16:3254771-3254771
46 MEFV NM_000243.2(MEFV):c.372C>T (p.Pro124=)SNV Conflicting interpretations of pathogenicity 97519 rs104895078 16:3304696-3304696 16:3254696-3254696
47 MEFV NM_000243.2(MEFV):c.586G>T (p.Gly196Trp)SNV Conflicting interpretations of pathogenicity 97532 rs104895179 16:3304482-3304482 16:3254482-3254482
48 MEFV NM_000243.2(MEFV):c.688G>A (p.Glu230Lys)SNV Conflicting interpretations of pathogenicity 97537 rs104895080 16:3304380-3304380 16:3254380-3254380
49 MEFV NM_000243.2(MEFV):c.926C>T (p.Thr309Met)SNV Conflicting interpretations of pathogenicity 97554 rs104895155 16:3299765-3299765 16:3249765-3249765
50 MEFV NM_000243.2(MEFV):c.986G>A (p.Arg329His)SNV Conflicting interpretations of pathogenicity 97557 rs104895112 16:3299705-3299705 16:3249705-3249705

UniProtKB/Swiss-Prot genetic disease variations for Familial Mediterranean Fever:

73 (show all 42)
# Symbol AA change Variation ID SNP ID
1 MEFV p.Glu148Gln VAR_009051 rs3743930
2 MEFV p.Glu167Asp VAR_009052 rs104895079
3 MEFV p.Thr267Ile VAR_009054 rs104895081
4 MEFV p.Arg408Gln VAR_009056 rs11466024
5 MEFV p.Phe479Leu VAR_009057 rs104895083
6 MEFV p.Thr681Ile VAR_009059 rs104895090
7 MEFV p.Met694Ile VAR_009061 rs28940578
8 MEFV p.Met694Val VAR_009062 rs61752717
9 MEFV p.Lys695Arg VAR_009064 rs104895094
10 MEFV p.Val726Ala VAR_009065 rs28940579
11 MEFV p.Arg761His VAR_009067 rs104895097
12 MEFV p.Leu110Pro VAR_016824 rs11466018
13 MEFV p.Glu230Lys VAR_016826 rs104895080
14 MEFV p.Arg653His VAR_016828 rs104895085
15 MEFV p.Ser675Asn VAR_016829 rs104895087
16 MEFV p.Met680Leu VAR_016830 rs104895089
17 MEFV p.Arg42Trp VAR_028326 rs61754767
18 MEFV p.Ser108Arg VAR_028327 rs104895103
19 MEFV p.Glu148Val VAR_028328 rs104895076
20 MEFV p.Glu163Ala VAR_028329 rs104895106
21 MEFV p.Thr177Ile VAR_028330 rs104895143
22 MEFV p.Glu319Lys VAR_028331 rs104895110
23 MEFV p.Glu474Lys VAR_028332 rs104895104
24 MEFV p.Gly632Ser VAR_028335 rs104895128
25 MEFV p.Ile640Met VAR_028336 rs104895115
26 MEFV p.Ile641Phe VAR_028337 rs104895147
27 MEFV p.Pro646Leu VAR_028338 rs104895107
28 MEFV p.Leu649Pro VAR_028339 rs104895108
29 MEFV p.Glu656Ala VAR_028340 rs104895086
30 MEFV p.Asp661Asn VAR_028341 rs104895120
31 MEFV p.Gly678Glu VAR_028342 rs104895088
32 MEFV p.Met680Ile VAR_028343 rs28940580
33 MEFV p.Tyr688Cys VAR_028344 rs104895122
34 MEFV p.Met694Leu VAR_028345 rs61752717
35 MEFV p.Lys695Met VAR_028346 rs104895094
36 MEFV p.Val704Ile VAR_028348 rs104895096
37 MEFV p.Pro705Ser VAR_028349 rs104895145
38 MEFV p.Ile720Met VAR_028350 rs104895102
39 MEFV p.Phe743Leu VAR_028351 rs104895152
40 MEFV p.Pro758Ser VAR_028352 rs104895114
41 MEFV p.Pro780Thr VAR_028353 rs104895154
42 MEFV p.Met694Lys VAR_070798

Copy number variations for Familial Mediterranean Fever from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 97367 16 1 7900000 Amplification MEFV Familial mediterranean fever

Expression for Familial Mediterranean Fever

Search GEO for disease gene expression data for Familial Mediterranean Fever.

Pathways for Familial Mediterranean Fever

Pathways related to Familial Mediterranean Fever according to KEGG:

36
# Name Kegg Source Accession
1 NOD-like receptor signaling pathway hsa04621

Pathways related to Familial Mediterranean Fever according to GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14 TNFRSF1A TNF SAA1 PYCARD PSTPIP1 NOD2
2
Show member pathways
13.4 TNFRSF1A TNF SAA1 NOD2 IL6 IL1RN
3
Show member pathways
13.34 TNFRSF1A TNF IL6 IL1R1 IL1B IL18
4
Show member pathways
13.17 TNFRSF1A TNF PYCARD NOD2 NLRP3 NLRP1
5
Show member pathways
12.99 TNFRSF1A TNF IL6 IL1R1 IL1B HLA-A
6
Show member pathways
12.87 TNFRSF1A TNF PYCARD NLRP3 IL6 IL1B
7
Show member pathways
12.85 TNF SAA1 PYCARD IL6 IL1B IL18
8 12.83 TNFRSF1A TNF IL6 IL1B HLA-A
9 12.8 TNFRSF1A TNF IL1R1 IL1B CASP1
10
Show member pathways
12.75 TNFRSF1A TNF IL6 IL1R1 IL1B
11
Show member pathways
12.67 TNF NOD2 IL6 IL1R1 IL1B IL18
12
Show member pathways
12.64 TNFRSF1A TNF IL1R1 IL1B CASP1
13 12.62 TNFRSF1A TNF NLRP1 IL1RN IL1B
14 12.41 TNFRSF1A TNF IL6 IL1R1 HLA-A
15 12.41 TNFRSF1A TNF PYCARD NLRP3 IL1R1 IL1B
16
Show member pathways
12.4 TNF SAA4 SAA2 SAA1 IL6 IL1B
17
Show member pathways
12.37 TNFRSF1A TNF IL6 IL18
18
Show member pathways
12.37 NOD2 IL1RN IL1R1 IL1B CASP1
19
Show member pathways
12.34 TNF IL6 IL1R1 IL1B
20
Show member pathways
12.32 TNF IL6 IL1B IL18 HLA-A
21 12.32 TNFRSF1A TNF NOD2 IL6 IL1B IL18
22
Show member pathways
12.31 TNF IL6 IL1RN IL1R1 IL1B IL18
23 12.3 TNFRSF1A TNF NLRP1 CASP1
24
Show member pathways
12.29 TNFRSF1A TNF PYCARD NLRP3 IL1B CASP1
25
Show member pathways
12.28 TNF PYCARD NLRP3 IL6 IL1B CASP1
26
Show member pathways
12.24 TNF IL6 IL1R1 IL1B
27 12.23 TNF IL6 IL1RN IL1B
28 12.22 TNFRSF1A TNF PYCARD NLRP3 IL6 IL1R1
29 12.15 TNFRSF1A TNF IL1R1 IL1B
30
Show member pathways
12.15 TNF IL6 IL1R1 IL1B IL18
31 12.11 TNFRSF1A TNF IL1R1 IL1B
32 12.09 TNF SAA1 IL6 IL1B IL18
33 12.08 TNF IL6 IL1R1 IL1B
34 12.08 TNFRSF1A TNF NOD2 IL6 IL1B
35
Show member pathways
12.04 IL1R1 IL1B IL18 HLA-A
36 12 TNF PYCARD NLRP3 MEFV IL6 IL1B
37 11.99 TNFRSF1A TNF IL1R1 IL1B
38 11.99 TNF IL6 IL1R1 IL1B
39 11.98 TNF IL6 IL1R1 IL1B
40
Show member pathways
11.97 PYCARD PSTPIP1 NOD2 NLRP3 NLRP1 MEFV
41 11.94 TNF IL6 IL1B IL18
42 11.91 PYCARD IL6 IL1B IL18 CASP1
43 11.86 TNF IL1R1 IL1B IL18
44 11.85 TNF PYCARD NLRP3 IL6 IL1B CASP1
45 11.81 TNF IL6 IL1RN IL1B IL18
46 11.78 TNF IL6 IL1B
47
Show member pathways
11.75 TNFRSF1A TNF IL6 IL1B
48 11.71 TNF IL6 IL1B
49 11.65 TNF IL6 IL1B IL18
50 11.64 TNF PYCARD IL6 IL1B IL18 CASP1

GO Terms for Familial Mediterranean Fever

Cellular components related to Familial Mediterranean Fever according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.96 TNFRSF1A TNF SAA4 SAA2 SAA1 IL6
2 extracellular region GO:0005576 9.73 TNFRSF1A TNF SAA4 SAA1 PYCARD NLRP3
3 high-density lipoprotein particle GO:0034364 9.5 SAA4 SAA2 SAA1
4 inflammasome complex GO:0061702 9.4 NLRP3 NLRP1
5 AIM2 inflammasome complex GO:0097169 9.37 PYCARD CASP1
6 NLRP3 inflammasome complex GO:0072559 9.33 PYCARD NLRP3 CASP1
7 NLRP1 inflammasome complex GO:0072558 8.8 PYCARD NLRP1 CASP1

Biological processes related to Familial Mediterranean Fever according to GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.34 TNFRSF1A PYCARD PSTPIP1 NLRP3 IL6 IL1RN
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.26 TNFRSF1A TNF NOD2 NLRP3 IL6 IL1B
3 apoptotic process GO:0006915 10.18 TNFRSF1A PYCARD NLRP3 NLRP1 IL1B CASP1
4 immune system process GO:0002376 10.18 PYCARD PSTPIP1 NOD2 NLRP3 NLRP1 MEFV
5 immune response GO:0006955 10.14 TNF IL6 IL1RN IL1R1 IL1B IL18
6 innate immune response GO:0045087 10.13 SAA1 PYCARD PSTPIP1 NOD2 NLRP3 NLRP1
7 positive regulation of gene expression GO:0010628 10.12 TNF IL6 IL1B IL18 CRP
8 defense response to bacterium GO:0042742 10.04 TNFRSF1A TNF NOD2 NLRP1
9 defense response GO:0006952 9.99 TNFRSF1A TNF NOD2 NLRP3
10 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.99 TNFRSF1A TNF NOD2 IL1RN IL1B CASP1
11 negative regulation of inflammatory response GO:0050728 9.98 TNFRSF1A SAA1 NLRP3 MVK MEFV
12 activation of MAPK activity GO:0000187 9.97 TNF SAA1 NOD2 IL1B
13 positive regulation of DNA-binding transcription factor activity GO:0051091 9.97 TNF PYCARD IL6 IL1B
14 defense response to Gram-positive bacterium GO:0050830 9.95 TNF NLRP3 IL6 CRP
15 interleukin-1-mediated signaling pathway GO:0070498 9.95 NOD2 IL1RN IL1R1 IL1B
16 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.95 TNF PYCARD NLRP3 NLRP1 CASP1
17 positive regulation of inflammatory response GO:0050729 9.94 TNFRSF1A TNF IL1B IL18
18 positive regulation of JNK cascade GO:0046330 9.93 TNF PYCARD NOD2 IL1RN IL1B
19 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.92 TNFRSF1A TNF IL6 IL18
20 neutrophil chemotaxis GO:0030593 9.91 SAA1 IL1RN IL1B
21 cellular response to organic cyclic compound GO:0071407 9.91 TNF NOD2 IL1B IL18
22 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.91 TNF NOD2 IL1B IL18
23 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.91 TNF PYCARD NOD2 NLRP3 IL6 IL1B
24 cellular response to mechanical stimulus GO:0071260 9.9 TNFRSF1A IL1B CASP1
25 response to glucocorticoid GO:0051384 9.9 TNF IL6 IL1RN
26 positive regulation of smooth muscle cell proliferation GO:0048661 9.89 TNF IL6 IL18
27 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.89 TNF PYCARD NLRP3 NLRP1 CASP1
28 positive chemotaxis GO:0050918 9.88 SAA4 SAA2 SAA1
29 positive regulation of phagocytosis GO:0050766 9.87 TNF PYCARD IL1B
30 positive regulation of interleukin-6 secretion GO:2000778 9.86 TNF PYCARD IL1B
31 cellular response to lipopolysaccharide GO:0071222 9.86 TNF PYCARD NOD2 NLRP3 IL6 IL1RN
32 lipopolysaccharide-mediated signaling pathway GO:0031663 9.85 TNF IL1B IL18
33 positive regulation of interferon-gamma production GO:0032729 9.85 TNF PYCARD IL1R1 IL1B IL18
34 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.84 TNFRSF1A TNF PYCARD
35 negative regulation of neurogenesis GO:0050768 9.83 TNF IL6 IL1B
36 positive regulation of interleukin-8 production GO:0032757 9.83 TNF NOD2 IL1B
37 acute-phase response GO:0006953 9.83 SAA4 SAA2 SAA1 IL6 CRP
38 cytokine-mediated signaling pathway GO:0019221 9.81 TNFRSF1A TNF SAA1 IL6 IL1RN IL1R1
39 positive regulation of glial cell proliferation GO:0060252 9.8 TNF IL6 IL1B
40 positive regulation of interleukin-1 beta production GO:0032731 9.8 PYCARD NOD2 CASP1
41 positive regulation of interleukin-1 beta secretion GO:0050718 9.8 PYCARD NOD2 NLRP3 NLRP1 CASP1
42 positive regulation of interleukin-6 production GO:0032755 9.8 TNF PYCARD NOD2 IL6 IL1RN IL1B
43 positive regulation of neuroinflammatory response GO:0150078 9.78 TNF IL6 IL1B IL18
44 negative regulation of lipid storage GO:0010888 9.77 TNF IL6 CRP
45 regulation of establishment of endothelial barrier GO:1903140 9.75 TNFRSF1A TNF IL1B
46 positive regulation of chemokine secretion GO:0090197 9.74 TNF PYCARD
47 response to muramyl dipeptide GO:0032495 9.74 NOD2 NLRP1
48 positive regulation of T-helper 1 cell cytokine production GO:2000556 9.74 IL1R1 IL1B IL18
49 positive regulation of ceramide biosynthetic process GO:2000304 9.73 TNFRSF1A TNF
50 positive regulation of chemokine biosynthetic process GO:0045080 9.73 TNF IL1B

Molecular functions related to Familial Mediterranean Fever according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.76 TNF PYCARD PSTPIP1 NLRP3 MVK MEFV
2 chemoattractant activity GO:0042056 9.43 SAA4 SAA2 SAA1
3 cytokine activity GO:0005125 9.35 TNF IL6 IL1RN IL1B IL18
4 interleukin-6 receptor binding GO:0005138 9.32 PYCARD IL6
5 cysteine-type endopeptidase activator activity involved in apoptotic process GO:0008656 8.8 PYCARD NLRP1 CASP1

Sources for Familial Mediterranean Fever

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