MCID: FML018
MIFTS: 73

Familial Mediterranean Fever

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

Aliases & Classifications for Familial Mediterranean Fever

MalaCards integrated aliases for Familial Mediterranean Fever:

Name: Familial Mediterranean Fever 57 12 76 24 53 25 59 37 29 55 6 44 15 73
Benign Paroxysmal Peritonitis 12 53 25 59
Fmf 57 53 25 59
Familial Paroxysmal Polyserositis 53 25 59
Recurrent Polyserositis 24 53 25
Familial Mediterranean Fever, Autosomal Recessive 57 75
Familial Mediterranean Fever, Ar 57 13
Periodic Fever Syndrome 6 73
Periodic Disease 53 59
Periodic Fever 53 73
Fever, Mediterranean, Familial, Autosomal Recessive 40
Hereditary Autoinflammatory Diseases 73
Polyserositis, Familial Paroxysmal 57
Benign Recurrent Polyserositis 59
Mediterranean Fever, Familial 76
Siegal-Cattan-Mamou Disease 25
Polyserositis, Recurrent 57
Reimann Periodic Disease 25
Wolff Periodic Disease 25
Periodic Peritonitis 53
Arfmf 75
Mef 25

Characteristics:

Orphanet epidemiological data:

59
familial mediterranean fever
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

57
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:

32
familial mediterranean fever:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Familial Mediterranean Fever

NIH Rare Diseases : 53 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).

MalaCards based summary : Familial Mediterranean Fever, also known as benign paroxysmal peritonitis, is related to amyloidosis aa and erysipelas, and has symptoms including abdominal pain, arthralgia and fever. An important gene associated with Familial Mediterranean Fever is MEFV (MEFV, Pyrin Innate Immunity Regulator), and among its related pathways/superpathways are NOD-like receptor signaling pathway and Innate Immune System. The drugs Methylprednisolone and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include lung, kidney and heart, and related phenotypes are osteoarthritis and seizures

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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.

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.

Disease Ontology : 12 A hypersensitivity reaction type II 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.

Wikipedia : 76 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 299)
# Related Disease Score Top Affiliating Genes
1 amyloidosis aa 31.7 CRP MEFV SAA1 SAA2 SAA4
2 erysipelas 31.0 MEFV TNF
3 vasculitis 30.8 CRP MEFV TNF
4 brucellosis 30.8 CRP IL1RN MEFV SAA1 TNF
5 periodontitis 30.7 CRP IL1B TNF
6 appendicitis 30.5 CRP IL1B TNF
7 pharyngitis 30.4 CRP IL1B MEFV
8 peritonitis 30.4 CRP IL1B MEFV TNF
9 idiopathic recurrent pericarditis 30.4 MEFV TNFRSF1A
10 central nervous system vasculitis 30.3 CRP IL1B TNF
11 chronic recurrent multifocal osteomyelitis 30.3 CASP1 IL1B NLRP3
12 spondyloarthropathy 1 30.2 CRP NOD2 TNF
13 pneumonia 30.1 CRP IL1B TNF
14 meningitis 30.0 CRP IL1B NLRP3 TNF
15 pericardial effusion 29.8 CRP NLRP3 TNFRSF1A
16 crohn's disease 29.8 CRP IL1B NOD2 TNF
17 poems syndrome 29.7 IL1B TNF
18 amyloidosis 29.6 MEFV NLRP3 SAA1 SAA2 SAA4 TNFRSF1A
19 colitis 29.6 IL1B NOD2 TNF
20 ulcerative colitis 29.4 CRP IL1B NOD2 TNF
21 pericarditis 29.4 CRP IL1B MEFV TNF TNFRSF1A
22 helicobacter pylori infection 29.2 IL1B IL1RN TNF
23 synovitis 29.2 CRP IL1B IL1RN TNF
24 arthritis 29.1 IL1B IL1RN PSTPIP1 SAA1 TNF
25 palindromic rheumatism 29.0 CRP IL1B MEFV TNF TNFRSF1A
26 psoriatic juvenile idiopathic arthritis 29.0 MEFV NLRP3 NOD2 PSTPIP1
27 aseptic meningitis 29.0 IL1B IL1RN NLRP3 TNF
28 periodontal disease 28.9 CRP IL1B IL1RN TNF
29 osteomyelitis 28.9 CASP1 IL1B IL1RN TNF
30 spondylitis 28.8 CRP IL1RN NOD2 TNF
31 cryopyrin-associated periodic syndrome 28.7 CRP IL1RN NLRP3 SAA4
32 adult-onset still's disease 28.7 CRP IL1B IL1RN MEFV TNF
33 periodic fever, familial, autosomal dominant 28.5 MEFV MVK NLRP3 TNF TNFRSF1A
34 aphthous stomatitis 28.3 IL1B IL1RN MEFV NLRP3 TNF
35 psoriatic arthritis 28.3 CRP IL1B NOD2 TNF TNFRSF1A
36 rheumatoid arthritis 28.1 CRP IL1B IL1RN SAA1 TNF TNFRSF1A
37 hyper-igd syndrome 28.1 CRP IL1RN MVK SAA1 TNFRSF1A
38 inflammatory bowel disease 26.6 CASP1 CRP IL1B IL1RN NOD2 TNF
39 familial mediterranean fever, autosomal dominant 12.5
40 amyloidosis, hereditary, transthyretin-related 11.0
41 pyogenic arthritis, pyoderma gangrenosum and acne 11.0
42 autoinflammation, panniculitis, and dermatosis syndrome 10.8 MEFV TNF
43 bronchus cancer 10.8 CRP SAA1
44 unicentric castleman disease 10.8 CRP SAA4
45 ulceroglandular tularemia 10.7 CASP1 CRP
46 familial cold autoinflammatory syndrome 2 10.7 CRP NLRP3
47 staphylococcal toxic shock syndrome 10.7 IL1B TNF
48 autoimmune myocarditis 10.7 IL1B TNF
49 kashin-beck disease 10.7 IL1B TNF
50 uremic pruritus 10.6 CRP IL1B

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



Diseases related to Familial Mediterranean Fever

Symptoms & Phenotypes for Familial Mediterranean Fever

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
splenomegaly

Skeletal:
arthralgia
monarticular or oligoarticular arthritis

Genitourinary Kidneys:
nephrotic syndrome
renal amyloidosis
renal failure

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

Cardiovascular Heart:
pericarditis

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

Human phenotypes related to Familial Mediterranean Fever:

59 32 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002758
2 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
3 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
4 constipation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002019
5 arthritis 59 32 Frequent (79-30%) HP:0001369
6 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
7 malabsorption 59 32 occasional (7.5%) Occasional (29-5%) HP:0002024
8 proteinuria 59 32 frequent (33%) Frequent (79-30%) HP:0000093
9 nephropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000112
10 fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001945
11 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
12 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
13 ascites 59 32 occasional (7.5%) Occasional (29-5%) HP:0001541
14 myocardial infarction 59 32 occasional (7.5%) Occasional (29-5%) HP:0001658
15 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
16 nephrotic syndrome 59 32 occasional (7.5%) Occasional (29-5%) HP:0000100
17 pancreatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001733
18 myalgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003326
19 intestinal obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0005214
20 chest pain 59 32 frequent (33%) Frequent (79-30%) HP:0100749
21 nephrocalcinosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000121
22 diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002014
23 erythema 59 32 frequent (33%) Frequent (79-30%) HP:0010783
24 pericarditis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001701
25 skin rash 59 32 occasional (7.5%) Occasional (29-5%) HP:0000988
26 meningitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001287
27 acute hepatic failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0006554
28 vasculitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002633
29 gastrointestinal infarctions 59 32 occasional (7.5%) Occasional (29-5%) HP:0005244
30 lymphadenopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002716
31 peritonitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002586
32 edema of the lower limbs 59 32 occasional (7.5%) Occasional (29-5%) HP:0010741
33 oral leukoplakia 59 32 frequent (33%) Frequent (79-30%) HP:0002745
34 pleuritis 59 32 frequent (33%) Frequent (79-30%) HP:0002102
35 orchitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100796
36 elevated erythrocyte sedimentation rate 59 32 occasional (7.5%) Occasional (29-5%) HP:0003565
37 erysipelas 59 32 frequent (33%) Frequent (79-30%) HP:0001055
38 hepatomegaly 32 HP:0002240
39 renal insufficiency 32 HP:0000083
40 leukocytosis 32 HP:0001974
41 episodic fever 32 HP:0001954
42 renal amyloidosis 32 HP:0001917

UMLS symptoms related to Familial Mediterranean Fever:


abdominal pain, arthralgia, fever

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 9.7 IL1B NLRP3 NOD2 TNF TNFRSF1A CASP1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.7 CASP1 IL1B NLRP3 NOD2 TNF TNFRSF1A

MGI Mouse Phenotypes related to Familial Mediterranean Fever:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.97 MEFV NLRP3 NOD2 PSTPIP1 TNF TNFRSF1A
2 homeostasis/metabolism MP:0005376 9.96 CASP1 CRP IL1B IL1RN MEFV NLRP3
3 immune system MP:0005387 9.85 CASP1 CRP IL1B IL1RN MEFV NLRP3
4 integument MP:0010771 9.5 CASP1 IL1B IL1RN MEFV NLRP3 TNF
5 skeleton MP:0005390 9.17 TNFRSF1A IL1B IL1RN MEFV NLRP3 NOD2

Drugs & Therapeutics for Familial Mediterranean Fever

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

(show top 50) (show all 80)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 83-43-2 6741
2
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 50-24-8 5755
3
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4 67-73-2 6215
4
Colchicine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 64-86-8 6167 2833
5
Ginseng Approved, Investigational, Nutraceutical Phase 4 50647-08-0
6 Antiemetics Phase 4,Not Applicable
7 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Not Applicable
8 Antineoplastic Agents, Hormonal Phase 4,Not Applicable
9 Autonomic Agents Phase 4,Not Applicable
10 Gastrointestinal Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
11 glucocorticoids Phase 4,Not Applicable
12 Hormone Antagonists Phase 4,Not Applicable
13 Hormones Phase 4,Not Applicable
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Not Applicable
15 Methylprednisolone acetate Phase 4,Phase 3,Phase 2,Not Applicable
16 Methylprednisolone Hemisuccinate Phase 4,Phase 3,Phase 2,Not Applicable
17 Neuroprotective Agents Phase 4,Not Applicable
18 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
19 Prednisolone acetate Phase 4,Phase 3,Phase 2,Not Applicable
20 Prednisolone hemisuccinate Phase 4,Phase 3,Phase 2,Not Applicable
21 Prednisolone phosphate Phase 4,Phase 3,Phase 2,Not Applicable
22 Protective Agents Phase 4,Not Applicable
23 Antimitotic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
24 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
25 Pharmaceutical Solutions Phase 4,Phase 3,Phase 1
26
Adalimumab Approved Phase 3 331731-18-1 16219006
27
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
28
Infliximab Approved Phase 3,Phase 1,Phase 2 170277-31-3
29
Apremilast Approved, Investigational Phase 3,Phase 2 608141-41-9 11561674
30
Cyclophosphamide Approved, Investigational Phase 3,Phase 2 50-18-0, 6055-19-2 2907
31 Antibodies Phase 3,Phase 2,Phase 1
32 Antibodies, Monoclonal Phase 3,Phase 2,Phase 1
33 Immunoglobulins Phase 3,Phase 2,Phase 1
34 Immunosuppressive Agents Phase 3,Phase 2,Not Applicable,Early Phase 1
35 Dermatologic Agents Phase 3,Phase 1,Phase 2,Not Applicable
36 Analgesics Phase 3,Phase 2,Not Applicable
37 Analgesics, Non-Narcotic Phase 3,Phase 2,Not Applicable
38 Anti-Inflammatory Agents, Non-Steroidal Phase 3,Phase 2,Not Applicable
39 Interleukin 1 Receptor Antagonist Protein Phase 3,Phase 2,Phase 1
40 Vaccines Phase 3
41 Antifungal Agents Phase 3
42 Anti-Infective Agents Phase 3,Phase 2
43 Antiviral Agents Phase 3,Phase 2
44 Calcineurin Inhibitors Phase 3
45 Cyclosporins Phase 3
46 Interferon-alpha Phase 3,Phase 2
47 interferons Phase 3,Phase 2
48 Angiogenesis Inhibitors Phase 3,Phase 2
49 Angiogenesis Modulating Agents Phase 3,Phase 2
50 Anti-Bacterial Agents Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 105)
# Name Status NCT ID Phase Drugs
1 The Efficacy of Methylprednisolone in the Treatment of Patients With Ocular Involvement in Behcet's Disease Unknown status NCT01306955 Phase 4 methylorednisolone
2 Flucinolone Acetonide Implant for Treating Refractory Ocular Behcet's Disease Unknown status NCT00720928 Phase 4 flucinolone acetonide
3 The Comparison of the Efficacy of Once and Twice Daily Colchicine Dosage in Pediatric Patients With FMF Completed NCT02602028 Phase 4 colchicine
4 Efficacy and Safety of Danggui-Sayuk-Ga-Osuyu-Saenggang-tang on Korean Patients With Cold Hypersensitivity in the Hands Completed NCT02645916 Phase 4 Danggui-Sayuk-Ga-Osuyu-Saenggang-tang;Placebo: corn starch
5 Effect of Korean Red Ginseng on Women With Cold Hypersensitivity of Hands and Feet Completed NCT01664156 Phase 4 Korean red ginseng;Placebo
6 Saline vs. Lactated Ringers for Emergency Department IV Fluid Resuscitation Completed NCT03133767 Phase 4 Lactated Ringer Solution;Normal Saline 0.9% Infusion Solution Bag
7 Kineret (Anakinra), in Adult Patients With Colchicine-Resistant Familial Mediterranean Fever Completed NCT01705756 Phase 3 Kineret
8 Study of Efficacy and Safety of Canakinumab in Patients With Hereditary Periodic Fevers Completed NCT02059291 Phase 3 Canakinumab;Placebo
9 An Extention Study of Safety of Canakinumab in Japanese Patients With Periodic Fever Syndromes Completed NCT02911857 Phase 3
10 Study of the Safety and Efficacy of NC-503 in Secondary (AA) Amyloidosis Completed NCT00035334 Phase 2, Phase 3 NC-503 (Anti-amyloidotic (AA) Agent)
11 The Safety and Efficacy of Canakinumab in Patients Aged 4 Years or Older Diagnosed With Cryopyrin-associated Periodic Syndromes (CAPS) in Canada Completed NCT01105507 Phase 3 canakinumab (company code: ACZ885D)
12 Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT01576367 Phase 3
13 Clinical Study of TA-650 in Patients With Behcet's Disease (BD) With Special Lesions Completed NCT01532570 Phase 3 TA-650
14 Efficacy of Humira in Behcet Patients With Arthritis Completed NCT01497717 Phase 3 Adalimumab (Humira)
15 Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT01302860 Phase 3 ACZ885
16 A Study of Adalimumab in Japanese Subjects With Intestinal Behçet's Disease Completed NCT01243671 Phase 3
17 Phase III Study in Refractory Behcet's Disease Completed NCT00995709 Phase 3 AIN457;AIN457;Placebo
18 Efficacy and Safety Study of Canakinumab Administered for 6 Months (24 Weeks) in Japanese Patients With Cryopyrin-associated Periodic Syndromes Followed by an Extension Phase Completed NCT00991146 Phase 3 canakinumab
19 Efficacy and Safety of ACZ885 in Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT00685373 Phase 3 Canakinumab (ACZ885)
20 Efficacy, Safety, and Tolerability of ACZ885 in Patients With Muckle-Wells Syndrome Completed NCT00465985 Phase 3 ACZ885;Placebo
21 Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS) Completed NCT00288704 Phase 3 rilonacept 160 mg;Placebo;rilonacept 160 mg
22 Interferon-alpha2a Versus Cyclosporin A for Severe Ocular Behcet`s Disease (INCYTOB) Completed NCT00167583 Phase 3 Cyclosporin A;Interferon-alpha2a
23 Efficacy and Safety of Sipjeondaebo-tang on Korean Patients With Cold Hypersensitivity in the Hands and Feet (SDT) Recruiting NCT03374345 Phase 2, Phase 3 Sipjeondaebo-tang Granule;Placebo
24 Efficacy and Safety of Ojeok-san on Korean Patients With Cold Hypersensitivity in the Hands and Feet Recruiting NCT03083522 Phase 3 Ojeok-San;Placebo
25 Interferon α2a Versus Cyclosporine for Refractory Behçet`s Disease Uveitis Recruiting NCT03209219 Phase 3 Interferon Alfa-2A;Cyclosporine Pill
26 A Study of Canakinumab in Patients With Systemic Juvenile Idiopathic Arthritis or Hereditary Periodic Fevers Who Participated in the CACZ885G2301E1, CACZ885G2306 or CACZ885N2301 Studies Active, not recruiting NCT02334748 Phase 3 canakinumab
27 A Study to Evaluate Efficacy and Safety of Infliximab in Participant With Moderate-to-Severe Refractory Intestinal Behcet's Disease Active, not recruiting NCT02505568 Phase 3 Infliximab
28 A Phase 3 Randomized, Double-blind Study to Evaluate the Efficacy and Safety of Apremilast (CC-10004) in Subjects With Active Behcet's Disease Active, not recruiting NCT02307513 Phase 3 Apremilast (CC-10004);Placebo
29 Colchicine in Postoperative Fontan Patients Not yet recruiting NCT03575572 Phase 2, Phase 3 Colchicine
30 Induction Therapy With Anti-TNFα vs Cyclophosphamide in Severe Behçet Disease Not yet recruiting NCT03371095 Phase 3 Infliximab;Cyclophosphamide
31 Canakinumab to Treat Neonatal-Onset Multisystem Inflammatory Disease Terminated NCT00770601 Phase 3 Canakinumab
32 Efficacy and Safety Study of Gevokizumab to Treat Behcet's Disease Uveitis Terminated NCT02258867 Phase 3 Placebo;Gevokizumab
33 Efficacy of Gevokizumab in the Treatment of Patients With Behçet's Disease Uveitis (EYEGUARD™-B) Terminated NCT01965145 Phase 3 Gevokizumab;Placebo
34 Controlled Ceasing of Colchicine Therapy in Familial Mediterranean Fever (FMF) Patients With Single MEFV (Mediterranean Fever) Gene Mutation Unknown status NCT02175589 Phase 2
35 The Efficacy and Safety of ITF2357 in AIS Unknown status NCT00442182 Phase 2 ITF2357
36 Efficacy and Safety of Canakinumab in Patients With Colchicine Resistant Familial Mediterranean Fever Completed NCT01088880 Phase 2 Canakinumab
37 Rilonacept for Treatment of Familial Mediterranean Fever (FMF) Completed NCT00582907 Phase 2 Rilonacept;Placebo
38 Evaluate the Safety and Efficacy of Canakinumab in Pediatric Patients With Colchicine Intolerant or Colchicine Resistant Familial Mediterranean Fever (FMF) Completed NCT01148797 Phase 2 Canakinumab
39 Interleukin-1 Trap to Treat Autoinflammatory Diseases Completed NCT00094900 Phase 2 IL-1 Trap
40 Ilaris (Canakinumab) in the Schnitzler Syndrome Completed NCT01245127 Phase 2 Ilaris
41 Rilonacept for Deficiency of the Interleukin-1 Receptor Antagonist (DIRA) Completed NCT01801449 Phase 2 Rilonacept
42 Efficacy and Safety Study of ACZ885 in Patients With Active Recurrent or Chronic TNF-receptor Associated Periodic Syndrome (TRAPS). Completed NCT01242813 Phase 2 ACZ885
43 Intravitreal Infliximab in Refractory Uveitis in Behcet's Disease: A Safety and Efficacy Clinical Study Completed NCT02620618 Phase 1, Phase 2 Intravitreal Infliximab
44 Canakinumab in Patients With Active Hyper-IgD Syndrome Completed NCT01303380 Phase 2 Canakinumab
45 Safety and Tolerability of Rilonacept in Muckle-Wells Syndrome (MWS) or Schnitzler Syndrome (SchS) Completed NCT01045772 Phase 2 rilonacept
46 A Study to Evaluate the Efficacy and Safety of Apremilast (CC-10004) in the Treatment of Behçet Disease Completed NCT00866359 Phase 2 Apremilast (CC-10004);Placebo
47 Colchicine Randomized Double-Blind Controlled Crossover Study in Behcet's Disease Completed NCT00700297 Phase 2 Colchicine;Placebo
48 Rituximab for the Treatment of Severe Ocular Manifestations of Behcet's Disease Completed NCT00664599 Phase 2 Rituximab;Cytotoxic Combination
49 Low Dose Interferon Alpha Treatment for Oral Ulcers of Behcet's Disease Completed NCT00483184 Phase 2
50 HAT in Eye Complications of Behcet's Disease Completed NCT00001865 Phase 2 Daclizumab

Search NIH Clinical Center for Familial Mediterranean Fever

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Lung, Kidney, Heart, Brain, Spinal Cord, Neutrophil, Bone

Publications for Familial Mediterranean Fever

Articles related to Familial Mediterranean Fever:

(show top 50) (show all 951)
# Title Authors Year
1
Angiotensin Converting Enzyme Gene Insertion/Deletion Variant and Familial Mediterranean Fever-related Amyloidosis. ( 29891744 )
2018
2
A rare cause of fever in an adult: a case of familial Mediterranean fever. ( 29559814 )
2018
3
Transplantation within the era of anti il-1 therapy: case series of 5 patients with familial mediterranean fever related amyloidosis. ( 29957882 )
2018
4
Effects of mating patterns on genealogical trees: Assessment of the high carrier rate of Familial Mediterranean Fever in rural Israeli districts. ( 29382538 )
2018
5
Blood group 'A' may have a possible modifier effect on familial Mediterranean fever and blood group '0' may be associated with colchicine resistance. ( 29873519 )
2018
6
Case report: acute hydrops and spontaneous corneal perforation in a patient with keratoconus treated with colchicine for familial Mediterranean fever. ( 29713855 )
2018
7
Very Rare Presentation of Cerebrovascular Accident in 20-Year-Old Man With Familial Mediterranean Fever-Case Report. ( 29326535 )
2018
8
A 44-Year-Old Female with Familial Mediterranean Fever, Cardiomyopathy and End Stage Renal Disease. ( 29265632 )
2018
9
Atypical familial Mediterranean fever developed in a long-term hemodialysis patient. ( 29345845 )
2018
10
Lack of clear and univocal genotype-phenotype correlation in Familial Mediterranean Fever patients: A systematic review. ( 29393966 )
2018
11
Sacroiliitis in Children With Familial Mediterranean Fever. ( 29596210 )
2018
12
Chemotherapy-Colchicine Interaction in a Child with Familial Mediterranean Fever and Hodgkin Lymphoma. ( 29531656 )
2018
13
Fatigue in pediatric patients with familial Mediterranean fever. ( 29322855 )
2018
14
Increased psoriasis frequency in patients with familial Mediterranean fever. ( 29363386 )
2018
15
Familial Mediterranean Fever Mutations in a Patient with Periodic Episodes of Systemic Pain Deriving from Cancer Bone Metastases. ( 29780113 )
2018
16
Long-term familial Mediterranean fever remission on successful hepatitis C virus treatment in a patient not responding to colchicine: a case report. ( 29773081 )
2018
17
Familial Mediterranean Fever: New Insights Into Cancer Immunoprevention? Comment on the Article by Brenner et al. ( 29569856 )
2018
18
Lipid profile and atherogenic indices and their association with platelet indices in familial Mediterranean fever. ( 29664424 )
2018
19
Comparison of early versus late onset familial Mediterranean fever. ( 29314707 )
2018
20
Canakinumab treatment in children with familial Mediterranean fever: report from a single center. ( 29450637 )
2018
21
Clinical and genetic heterogeneity in a large cohort of Armenian patients with late-onset familial Mediterranean fever. ( 29543225 )
2018
22
A Case of Familial Mediterranean Fever with Extensive Lymphadenopathy and Complex Heterozygous Genotype Presenting in the Fourth Decade. ( 29808155 )
2018
23
Analysis of microRNAs in familial Mediterranean fever. ( 29787577 )
2018
24
The evaluation of salivary oxidative stress in patients with familial mediterranean fever and chronic periodontitis. ( 29761911 )
2018
25
Canakinumab treatment in renal transplant recipients with familial Mediterranean fever. ( 29446001 )
2018
26
PFAPA Syndrome in a Population with Endemic Familial Mediterranean Fever. ( 29031862 )
2018
27
Familial Mediterranean fever mutations are hypermorphic mutations that specifically decrease the activation threshold of the Pyrin inflammasome. ( 29040788 )
2018
28
Canakinumab as monotherapy for treatment of familial Mediterranean fever - first report in Central and Eastern Europe region. ( 29663815 )
2018
29
Evaluation of the effects of miRNAs in familial Mediterranean fever. ( 29442258 )
2018
30
Immunological Evaluation in Patients with Familial Mediterranean fever. ( 29531594 )
2018
31
Efficacy and safety of interleukin-1 inhibitors in familial Mediterranean fever patients complicated with amyloidosis. ( 29578360 )
2018
32
A Case of Familial Mediterranean Fever Having Intermittent Leukopenia. ( 29240030 )
2018
33
Canakinumab treatment in kidney transplant recipients with AA amyloidosis due to familial Mediterranean fever. ( 29981275 )
2018
34
Effect of oral Colchicine on Peripapillary retinal nerve fiber layer thickness in patients with familial Mediterranean fever. ( 29402238 )
2018
35
Boundaries between familial Mediterranean fever and juvenile spondyloarthritis: Analysis of three French retrospective cohorts. ( 29452306 )
2018
36
MEFV gene testing may guide physicians for early diagnosis of familial Mediterranean fever. ( 29314663 )
2018
37
Ankylosing Spondylitis Among Familial Mediterranean Fever Patients. ( 28982344 )
2018
38
GSDMD is critical for autoinflammatory pathology in a mouse model of Familial Mediterranean Fever. ( 29793924 )
2018
39
Comparison of patients with familial Mediterranean fever accompanied with sacroiliitis and patients with juvenile spondyloarthropathy. ( 28980897 )
2017
40
Familial Mediterranean fever with P369S/R408Q exon3 variant in pyrin presenting as symptoms of PFAPA. ( 28001092 )
2017
41
Multiple pelvic cysts in a patient with familial Mediterranean fever: Benign cystic mesothelioma. ( 29237974 )
2017
42
A survey of resistance to colchicine treatment for French patients with familial Mediterranean fever. ( 28302131 )
2017
43
Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration. ( 27150194 )
2017
44
Evaluation of IL-1I^, IL-1ra, and IL-10 levels and outcome of periodontal therapy in chronic periodontitis with familial Mediterranean fever. ( 27068409 )
2017
45
Canakinumab for the treatment of familial Mediterranean fever. ( 28362189 )
2017
46
Fas and Fas ligand gene polymorphisms in Turkish patients with Familial Mediterranean Fever. ( 28442396 )
2017
47
Is there any difference regarding atopy between children with familial Mediterranean fever and healthy controls? ( 28465037 )
2017
48
MicroRNA-204-3p inhibits lipopolysaccharide-induced cytokines in familial Mediterranean fever via the phosphoinositide 3-kinase I^ pathway. ( 29294109 )
2017
49
Can the Thiol/Disulfide Imbalance Be a Predictor of Colchicine Resistance in Familial Mediterranean Fever? ( 28875601 )
2017
50
Association of amyloidosis cutis dyschromica and familial Mediterranean fever. ( 29267436 )
2017

Variations for Familial Mediterranean Fever

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

75 (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

ClinVar genetic disease variations for Familial Mediterranean Fever:

6
(show top 50) (show all 178)
# Gene Variation Type Significance SNP ID Assembly Location
1 MEFV NM_000243.2(MEFV): c.2080A> G (p.Met694Val) single nucleotide variant Pathogenic rs61752717 GRCh37 Chromosome 16, 3293407: 3293407
2 MEFV NM_000243.2(MEFV): c.2080A> G (p.Met694Val) single nucleotide variant Pathogenic rs61752717 GRCh38 Chromosome 16, 3243407: 3243407
3 MEFV NM_000243.2(MEFV): c.2082G> A (p.Met694Ile) single nucleotide variant Pathogenic rs28940578 GRCh37 Chromosome 16, 3293405: 3293405
4 MEFV NM_000243.2(MEFV): c.2082G> A (p.Met694Ile) single nucleotide variant Pathogenic rs28940578 GRCh38 Chromosome 16, 3243405: 3243405
5 MEFV NM_000243.2(MEFV): c.2177T> C (p.Val726Ala) single nucleotide variant Pathogenic/Likely pathogenic rs28940579 GRCh37 Chromosome 16, 3293310: 3293310
6 MEFV NM_000243.2(MEFV): c.2177T> C (p.Val726Ala) single nucleotide variant Pathogenic/Likely pathogenic rs28940579 GRCh38 Chromosome 16, 3243310: 3243310
7 MEFV NM_000243.2(MEFV): c.1437C> G (p.Phe479Leu) single nucleotide variant Pathogenic rs104895083 GRCh37 Chromosome 16, 3297166: 3297166
8 MEFV NM_000243.2(MEFV): c.1437C> G (p.Phe479Leu) single nucleotide variant Pathogenic rs104895083 GRCh38 Chromosome 16, 3247166: 3247166
9 MEFV NM_000243.2(MEFV): c.2282G> A (p.Arg761His) single nucleotide variant Pathogenic/Likely pathogenic rs104895097 GRCh37 Chromosome 16, 3293205: 3293205
10 MEFV NM_000243.2(MEFV): c.2282G> A (p.Arg761His) single nucleotide variant Pathogenic/Likely pathogenic rs104895097 GRCh38 Chromosome 16, 3243205: 3243205
11 MEFV NM_000243.2(MEFV): c.2040G> A (p.Met680Ile) single nucleotide variant Pathogenic rs28940580 GRCh37 Chromosome 16, 3293447: 3293447
12 MEFV NM_000243.2(MEFV): c.2040G> A (p.Met680Ile) single nucleotide variant Pathogenic rs28940580 GRCh38 Chromosome 16, 3243447: 3243447
13 MEFV NM_000243.2(MEFV): c.1958G> A (p.Arg653His) single nucleotide variant Pathogenic rs104895085 GRCh37 Chromosome 16, 3293529: 3293529
14 MEFV NM_000243.2(MEFV): c.1958G> A (p.Arg653His) single nucleotide variant Pathogenic rs104895085 GRCh38 Chromosome 16, 3243529: 3243529
15 MEFV NM_000243.2(MEFV): c.2081_2083delTGA (p.Met694del) deletion Pathogenic rs104895091 GRCh38 Chromosome 16, 3243404: 3243406
16 MEFV NM_000243.2(MEFV): c.2081_2083delTGA (p.Met694del) deletion Pathogenic rs104895091 GRCh37 Chromosome 16, 3293404: 3293406
17 MEFV NM_000243.2(MEFV): c.1432C> T (p.His478Tyr) single nucleotide variant Pathogenic rs104895105 GRCh37 Chromosome 16, 3297171: 3297171
18 MEFV NM_000243.2(MEFV): c.1432C> T (p.His478Tyr) single nucleotide variant Pathogenic rs104895105 GRCh38 Chromosome 16, 3247171: 3247171
19 MEFV NM_000243.2(MEFV): c.2040G> C (p.Met680Ile) single nucleotide variant Pathogenic rs28940580 GRCh37 Chromosome 16, 3293447: 3293447
20 MEFV NM_000243.2(MEFV): c.2040G> C (p.Met680Ile) single nucleotide variant Pathogenic rs28940580 GRCh38 Chromosome 16, 3243447: 3243447
21 MEFV NM_000243.2(MEFV): c.2060G> A (p.Gly687Asp) single nucleotide variant Pathogenic rs387907570 GRCh37 Chromosome 16, 3293427: 3293427
22 MEFV NM_000243.2(MEFV): c.2060G> A (p.Gly687Asp) single nucleotide variant Pathogenic rs387907570 GRCh38 Chromosome 16, 3243427: 3243427
23 MEFV NM_000243.2(MEFV): c.1894G> A (p.Gly632Ser) single nucleotide variant Likely pathogenic rs104895128 GRCh37 Chromosome 16, 3293593: 3293593
24 MEFV NM_000243.2(MEFV): c.1894G> A (p.Gly632Ser) single nucleotide variant Likely pathogenic rs104895128 GRCh38 Chromosome 16, 3243593: 3243593
25 MEFV NM_000243.2(MEFV): c.2064C> G (p.Tyr688Ter) single nucleotide variant Pathogenic rs104895098 GRCh37 Chromosome 16, 3293423: 3293423
26 MEFV NM_000243.2(MEFV): c.2064C> G (p.Tyr688Ter) single nucleotide variant Pathogenic rs104895098 GRCh38 Chromosome 16, 3243423: 3243423
27 MEFV NM_000243.2(MEFV): c.2076_2078delAAT (p.Ile692del) deletion Pathogenic rs104895093 GRCh37 Chromosome 16, 3293409: 3293411
28 MEFV NM_000243.2(MEFV): c.2076_2078delAAT (p.Ile692del) deletion Pathogenic rs104895093 GRCh38 Chromosome 16, 3243409: 3243411
29 MEFV NM_000243.2(MEFV): c.1082G> C (p.Arg361Thr) single nucleotide variant not provided rs190405488 GRCh38 Chromosome 16, 3249609: 3249609
30 MEFV NM_000243.2(MEFV): c.1082G> C (p.Arg361Thr) single nucleotide variant not provided rs190405488 GRCh37 Chromosome 16, 3299609: 3299609
31 MEFV NM_000243.2(MEFV): c.2053G> A (p.Glu685Lys) single nucleotide variant not provided rs587783378 GRCh38 Chromosome 16, 3243434: 3243434
32 MEFV NM_000243.2(MEFV): c.2053G> A (p.Glu685Lys) single nucleotide variant not provided rs587783378 GRCh37 Chromosome 16, 3293434: 3293434
33 MEFV NM_000243.2(MEFV): c.369C> A (p.His123Gln) single nucleotide variant Uncertain significance rs587783379 GRCh38 Chromosome 16, 3254699: 3254699
34 MEFV NM_000243.2(MEFV): c.369C> A (p.His123Gln) single nucleotide variant Uncertain significance rs587783379 GRCh37 Chromosome 16, 3304699: 3304699
35 MEFV NM_000243.2(MEFV): c.1166A> T (p.Asp389Val) single nucleotide variant not provided rs786205886 GRCh38 Chromosome 16, 3249525: 3249525
36 MEFV NM_000243.2(MEFV): c.1166A> T (p.Asp389Val) single nucleotide variant not provided rs786205886 GRCh37 Chromosome 16, 3299525: 3299525
37 MEFV NM_000243.2(MEFV): c.329T> C (p.Leu110Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs11466018 GRCh37 Chromosome 16, 3304739: 3304739
38 MEFV NM_000243.2(MEFV): c.329T> C (p.Leu110Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs11466018 GRCh38 Chromosome 16, 3254739: 3254739
39 MEFV NM_000243.2(MEFV): c.*267G> A single nucleotide variant Likely benign rs2741918 GRCh37 Chromosome 16, 3292874: 3292874
40 MEFV NM_000243.2(MEFV): c.*267G> A single nucleotide variant Likely benign rs2741918 GRCh38 Chromosome 16, 3242874: 3242874
41 MEFV NM_000243.2(MEFV): c.*245G> A single nucleotide variant Likely benign rs2741919 GRCh38 Chromosome 16, 3242896: 3242896
42 MEFV NM_000243.2(MEFV): c.*245G> A single nucleotide variant Likely benign rs2741919 GRCh37 Chromosome 16, 3292896: 3292896
43 MEFV NM_000243.2(MEFV): c.*133G> A single nucleotide variant Likely benign rs2075849 GRCh37 Chromosome 16, 3293008: 3293008
44 MEFV NM_000243.2(MEFV): c.*133G> A single nucleotide variant Likely benign rs2075849 GRCh38 Chromosome 16, 3243008: 3243008
45 MEFV NM_000243.2(MEFV): c.1337A> C (p.Glu446Ala) single nucleotide variant Uncertain significance rs749651486 GRCh38 Chromosome 16, 3248928: 3248928
46 MEFV NM_000243.2(MEFV): c.1337A> C (p.Glu446Ala) single nucleotide variant Uncertain significance rs749651486 GRCh37 Chromosome 16, 3298928: 3298928
47 MEFV NM_000243.2(MEFV): c.124C> T (p.Arg42Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61754767 GRCh38 Chromosome 16, 3256464: 3256464
48 MEFV NM_000243.2(MEFV): c.124C> T (p.Arg42Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61754767 GRCh37 Chromosome 16, 3306464: 3306464
49 MEFV NM_000243.2(MEFV): c.611G> A (p.Arg204His) single nucleotide variant Uncertain significance rs775663363 GRCh38 Chromosome 16, 3254457: 3254457
50 MEFV NM_000243.2(MEFV): c.611G> A (p.Arg204His) single nucleotide variant Uncertain significance rs775663363 GRCh37 Chromosome 16, 3304457: 3304457

Copy number variations for Familial Mediterranean Fever from CNVD:

7
# CNVD ID Chromosom 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:

37
# Name Kegg Source Accession
1 NOD-like receptor signaling pathway hsa04621

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

(show all 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 CASP1 CRP IL1B IL1RN MEFV NLRP3
2
Show member pathways
13.19 CASP1 IL1B IL1RN NOD2 SAA1 TNF
3
Show member pathways
12.66 CASP1 IL1B NLRP3 TNF TNFRSF1A
4 12.42 IL1B IL1RN TNF TNFRSF1A
5
Show member pathways
12.41 CASP1 IL1B MEFV NLRP3 NOD2 PSTPIP1
6
Show member pathways
12.34 CASP1 IL1B TNF TNFRSF1A
7
Show member pathways
12.18 CASP1 IL1B IL1RN NOD2
8 12.1 IL1B NOD2 TNF TNFRSF1A
9
Show member pathways
12.08 CASP1 TNF TNFRSF1A
10
Show member pathways
12.06 CASP1 IL1B NLRP3 TNF
11
Show member pathways
12 CASP1 IL1B NLRP3 TNF TNFRSF1A
12 11.97 IL1B TNF TNFRSF1A
13
Show member pathways
11.97 CRP IL1B SAA1 SAA2 SAA4 TNF
14 11.92 IL1B TNF TNFRSF1A
15
Show member pathways
11.89 CASP1 TNF TNFRSF1A
16
Show member pathways
11.85 CASP1 TNF TNFRSF1A
17 11.84 IL1B SAA1 TNF
18 11.83 IL1B NOD2 TNF TNFRSF1A
19 11.75 IL1B TNF TNFRSF1A
20
Show member pathways
11.72 CASP1 MEFV NLRP3 NOD2 PSTPIP1
21 11.59 CASP1 IL1B NLRP3 TNF
22
Show member pathways
11.56 IL1B TNF TNFRSF1A
23 11.47 CASP1 IL1B TNF
24 11.31 IL1B IL1RN TNF TNFRSF1A
25 10.99 NOD2 TNF TNFRSF1A
26 10.95 CASP1 IL1B TNF
27 10.92 CRP TNF
28 10.83 IL1B TNF
29 10.63 CASP1 IL1B MEFV NLRP3 NOD2
30 10.44 CASP1 IL1B

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 9.76 CRP IL1B IL1RN SAA1 SAA2 SAA4
2 extracellular region GO:0005576 9.61 CASP1 CRP IL1B IL1RN NLRP3 SAA1
3 NLRP3 inflammasome complex GO:0072559 9.26 CASP1 NLRP3
4 high-density lipoprotein particle GO:0034364 8.8 SAA1 SAA2 SAA4

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

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.95 CRP MEFV NLRP3 NOD2 PSTPIP1 SAA1
2 cytokine-mediated signaling pathway GO:0019221 9.88 CASP1 IL1B IL1RN SAA1 TNF TNFRSF1A
3 cellular response to lipopolysaccharide GO:0071222 9.87 CASP1 NLRP3 TNF
4 defense response to Gram-positive bacterium GO:0050830 9.86 CRP NLRP3 TNF
5 defense response GO:0006952 9.86 NLRP3 NOD2 TNF TNFRSF1A
6 interleukin-1-mediated signaling pathway GO:0070498 9.85 IL1B IL1RN NOD2
7 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.85 CASP1 NLRP3 TNF
8 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.85 IL1B NLRP3 NOD2 TNF
9 cellular response to mechanical stimulus GO:0071260 9.84 CASP1 IL1B TNFRSF1A
10 cell chemotaxis GO:0060326 9.83 SAA1 SAA2 SAA4
11 cellular response to organic cyclic compound GO:0071407 9.83 IL1B NOD2 TNF
12 activation of MAPK activity GO:0000187 9.83 IL1B NOD2 SAA1 TNF
13 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.83 CASP1 IL1B NOD2 TNF TNFRSF1A
14 positive regulation of JNK cascade GO:0046330 9.82 IL1B NOD2 TNF
15 positive regulation of interleukin-6 production GO:0032755 9.79 IL1B NOD2 TNF
16 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.79 IL1B NOD2 TNF
17 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.78 CASP1 NLRP3 TNF
18 positive chemotaxis GO:0050918 9.77 SAA1 SAA2 SAA4
19 regulation of inflammatory response GO:0050727 9.76 CASP1 NLRP3 NOD2 TNF
20 positive regulation of cytokine secretion GO:0050715 9.71 CASP1 SAA1 TNF
21 response to ATP GO:0033198 9.69 CASP1 IL1B
22 negative regulation of lipid catabolic process GO:0050995 9.69 IL1B TNF
23 regulation of protein secretion GO:0050708 9.69 SAA1 TNF
24 positive regulation of interleukin-8 production GO:0032757 9.69 IL1B NOD2 TNF
25 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.68 IL1B TNF
26 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.68 IL1B TNF
27 negative regulation of lipid storage GO:0010888 9.67 CRP TNF
28 positive regulation of ceramide biosynthetic process GO:2000304 9.67 TNF TNFRSF1A
29 positive regulation of interleukin-1 beta secretion GO:0050718 9.67 CASP1 NLRP3 NOD2
30 positive regulation of chemokine biosynthetic process GO:0045080 9.65 IL1B TNF
31 death-inducing signaling complex assembly GO:0071550 9.65 TNF TNFRSF1A
32 positive regulation of type 2 immune response GO:0002830 9.64 NLRP3 NOD2
33 cellular response to peptidoglycan GO:0071224 9.63 NLRP3 NOD2
34 positive regulation of fever generation GO:0031622 9.63 IL1B TNF
35 fever generation GO:0001660 9.62 IL1B IL1RN
36 acute-phase response GO:0006953 9.62 CRP SAA1 SAA2 SAA4
37 sequestering of triglyceride GO:0030730 9.6 IL1B TNF
38 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.58 IL1B TNF
39 detection of biotic stimulus GO:0009595 9.58 NLRP3 NOD2
40 cytokine secretion involved in immune response GO:0002374 9.57 NLRP3 NOD2
41 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.56 IL1B NLRP3 NOD2 TNF
42 regulation of establishment of endothelial barrier GO:1903140 9.54 IL1B TNF TNFRSF1A
43 negative regulation of inflammatory response GO:0050728 9.43 MEFV MVK NLRP3 NOD2 SAA1 TNFRSF1A
44 interleukin-1 beta production GO:0032611 9.33 CASP1 IL1B NLRP3
45 inflammatory response GO:0006954 9.28 CRP IL1B IL1RN MEFV NLRP3 NOD2

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

# Name GO ID Score Top Affiliating Genes
1 interleukin-1 receptor binding GO:0005149 9.32 IL1B IL1RN
2 peptidoglycan binding GO:0042834 9.26 NLRP3 NOD2
3 identical protein binding GO:0042802 9.23 CASP1 CRP MEFV MVK NLRP3 PSTPIP1
4 CARD domain binding GO:0050700 9.16 CASP1 NOD2
5 chemoattractant activity GO:0042056 9.13 SAA1 SAA2 SAA4

Sources for Familial Mediterranean Fever

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