ARFMF
MCID: FML018
MIFTS: 72

Familial Mediterranean Fever (ARFMF)

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 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 autoinflammation, panniculitis, and dermatosis syndrome, and has symptoms including fever, arthralgia and abdominal pain. 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

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.

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.

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.

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 377)
# Related Disease Score Top Affiliating Genes
1 amyloidosis aa 32.2 CRP MEFV SAA1 SAA2 SAA4
2 autoinflammation, panniculitis, and dermatosis syndrome 32.1 MEFV TNF
3 familial cold autoinflammatory syndrome 31.8 CASP1 IL1B NLRP3 SAA1
4 systemic onset juvenile idiopathic arthritis 31.7 IL1RN MEFV TNF
5 muckle-wells syndrome 31.6 CASP1 CRP IL1B MEFV NLRP3 TNFRSF1A
6 schnitzler syndrome 31.0 CRP IL1B IL1RN NLRP3
7 amyloidosis 30.8 MEFV NLRP3 SAA1 SAA2 SAA4 TNFRSF1A
8 vasculitis 30.7 CRP MEFV TNF
9 cervical adenitis 30.7 IL1B MEFV MVK NLRP3
10 erysipelas 30.6 MEFV TNF
11 cinca syndrome 30.6 CASP1 IL1B IL1RN MEFV MVK NLRP3
12 spondyloarthropathy 1 30.6 CRP NOD2 TNF
13 crohn's disease 30.5 CRP NOD2 TNF
14 haemophilus influenzae 30.5 IL1B TNF
15 periodontitis 30.5 CRP IL1B TNF
16 appendicitis 30.4 CRP IL1B TNF
17 peritonitis 30.4 CRP IL1B MEFV TNF
18 pharyngitis 30.4 CRP IL1B MEFV
19 stomatitis 30.4 IL1B MEFV TNF
20 colitis 30.3 IL1B NOD2 TNF
21 meningitis 30.2 CRP IL1B NLRP3 TNF
22 spondylitis 30.1 CRP IL1RN NOD2 TNF
23 drug reaction with eosinophilia and systemic symptoms 30.1 CRP TNF
24 arthritis 30.1 IL1B IL1RN NOD2 PSTPIP1 SAA1 TNF
25 crohn's colitis 30.0 IL1B NOD2 TNF
26 idiopathic recurrent pericarditis 30.0 MEFV TNFRSF1A
27 pleurisy 30.0 CRP MEFV TNF
28 ulcerative colitis 30.0 CRP IL1B NOD2 TNF
29 central nervous system vasculitis 30.0 CRP IL1B TNF
30 chronic recurrent multifocal osteomyelitis 30.0 CASP1 IL1B NLRP3
31 arteries, anomalies of 29.9 CRP IL1B TNF
32 pneumonia 29.9 CRP IL1B TNF
33 arthropathy 29.9 CRP NLRP3 TNF
34 mevalonic aciduria 29.9 IL1RN MVK NLRP3
35 juvenile rheumatoid arthritis 29.9 CRP IL1B IL1RN TNF
36 synovitis 29.9 CRP IL1B IL1RN TNF
37 rheumatoid arthritis 29.9 CRP IL1B IL1RN SAA1 TNF TNFRSF1A
38 aseptic meningitis 29.8 IL1B IL1RN NLRP3 TNF
39 pericardial effusion 29.8 CRP NLRP3 TNFRSF1A
40 poems syndrome 29.8 IL1B TNF
41 periodic fever, familial, autosomal dominant 29.8 MEFV MVK NLRP3 TNF TNFRSF1A
42 periodontal disease 29.7 CRP IL1B IL1RN TNF
43 aphthous stomatitis 29.7 IL1B IL1RN MEFV NLRP3 TNF
44 cryopyrin-associated periodic syndrome 29.7 CRP IL1RN NLRP3 SAA4
45 osteomyelitis 29.7 IL1B IL1RN TNF
46 palindromic rheumatism 29.6 CRP IL1B MEFV TNF TNFRSF1A
47 psoriatic juvenile idiopathic arthritis 29.6 MEFV NLRP3 NOD2 PSTPIP1
48 hyper-igd syndrome 29.5 CRP IL1RN MVK SAA1 TNFRSF1A
49 wells syndrome 29.5 CRP IL1B MEFV NLRP3 TNFRSF1A
50 adult-onset still's disease 29.5 CRP IL1B IL1RN MEFV TNF TNFRSF1A

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
Abdomen Spleen:
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:


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 9.7 CASP1 IL1B NLRP3 NOD2 TNF TNFRSF1A
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 CASP1 IL1B IL1RN MEFV NLRP3 NOD2
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 IL1B IL1RN MEFV NLRP3 NOD2 TNF

Drugs & Therapeutics for Familial Mediterranean Fever

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

(show top 50) (show all 81)
# 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
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 302-25-0
4
Methylprednisolone hemisuccinate Approved Phase 4,Phase 3,Phase 2,Not Applicable 2921-57-5
5
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4 67-73-2 6215
6
Colchicine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 64-86-8 6167 2833
7
Ginseng Approved, Investigational, Nutraceutical Phase 4 50647-08-0
8
Prednisolone hemisuccinate Experimental Phase 4,Phase 3,Phase 2,Not Applicable 2920-86-7
9 Gastrointestinal Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
10 Antineoplastic Agents, Hormonal Phase 4,Not Applicable
11 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Not Applicable
12 Hormone Antagonists Phase 4,Not Applicable
13 Prednisolone acetate Phase 4,Phase 3,Phase 2,Not Applicable
14 Neuroprotective Agents Phase 4,Not Applicable
15 glucocorticoids Phase 4,Not Applicable
16 Antiemetics Phase 4,Not Applicable
17 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
18 Hormones Phase 4,Not Applicable
19 Autonomic Agents Phase 4,Not Applicable
20 Protective Agents Phase 4,Not Applicable
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Not Applicable
22 Methylprednisolone acetate Phase 4,Phase 3,Phase 2,Not Applicable
23 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
24 Antimitotic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
25 Pharmaceutical Solutions Phase 4,Phase 3,Phase 1
26
Infliximab Approved Phase 3,Phase 1,Phase 2 170277-31-3
27
Adalimumab Approved Phase 3 331731-18-1 16219006
28
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
29
Apremilast Approved, Investigational Phase 3,Phase 2 608141-41-9 11561674
30
Cyclophosphamide Approved, Investigational Phase 3,Phase 2 6055-19-2, 50-18-0 2907
31 Immunologic Factors Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
32 Dermatologic Agents Phase 3,Phase 1,Phase 2,Not Applicable
33 Immunosuppressive Agents Phase 3,Phase 2,Not Applicable,Early Phase 1
34 Analgesics Phase 3,Phase 2,Not Applicable
35 Anti-Inflammatory Agents, Non-Steroidal Phase 3,Phase 2,Not Applicable
36 Analgesics, Non-Narcotic Phase 3,Phase 2,Not Applicable
37 Interleukin 1 Receptor Antagonist Protein Phase 3,Phase 2,Phase 1
38 Immunoglobulins Phase 3,Phase 2,Phase 1
39 Antibodies, Monoclonal Phase 3,Phase 2,Phase 1
40 Antibodies Phase 3,Phase 2,Phase 1
41 Vaccines Phase 3
42 Interferon-alpha Phase 3,Phase 2
43 Antiviral Agents Phase 3,Phase 2
44 Cyclosporins Phase 3
45 Calcineurin Inhibitors Phase 3
46 Antifungal Agents Phase 3
47 interferons Phase 3,Phase 2
48 Anti-Infective Agents Phase 3,Phase 2
49 Angiogenesis Modulating Agents Phase 3,Phase 2
50 Angiogenesis Inhibitors Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 111)
# 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 A Study of Canakinumab in Patients With Systemic Juvenile Idiopathic Arthritis or Hereditary Periodic Fevers Who Participated in the CACZ885G2301E1, CACZ885G2306 or CACZ885N2301 Studies Completed NCT02334748 Phase 3 canakinumab
11 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)
12 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)
13 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
14 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
15 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
16 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)
17 Efficacy, Safety, and Tolerability of ACZ885 in Patients With Muckle-Wells Syndrome Completed NCT00465985 Phase 3 ACZ885;Placebo
18 A Study to Evaluate Efficacy and Safety of Infliximab in Participant With Moderate-to-Severe Refractory Intestinal Behcet's Disease Completed NCT02505568 Phase 3 Infliximab
19 Clinical Study of TA-650 in Patients With Behcet's Disease (BD) With Special Lesions Completed NCT01532570 Phase 3 TA-650
20 Efficacy of Humira in Behcet Patients With Arthritis Completed NCT01497717 Phase 3 Adalimumab (Humira)
21 A Study of Adalimumab in Japanese Subjects With Intestinal Behçet's Disease Completed NCT01243671 Phase 3
22 Phase III Study in Refractory Behcet's Disease Completed NCT00995709 Phase 3 AIN457;AIN457;Placebo
23 Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS) Completed NCT00288704 Phase 3 rilonacept 160 mg;Placebo;rilonacept 160 mg
24 Interferon-alpha2a Versus Cyclosporin A for Severe Ocular Behcet`s Disease (INCYTOB) Completed NCT00167583 Phase 3 Cyclosporin A;Interferon-alpha2a
25 Colchicine in Postoperative Fontan Patients Recruiting NCT03575572 Phase 2, Phase 3 Colchicine
26 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
27 Efficacy and Safety of Ojeok-san on Korean Patients With Cold Hypersensitivity in the Hands and Feet Recruiting NCT03083522 Phase 3 Ojeok-San;Placebo
28 Interferon α2a Versus Cyclosporine for Refractory Behçet`s Disease Uveitis Recruiting NCT03209219 Phase 3 Interferon Alfa-2A;Cyclosporine Pill
29 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
30 Efficacy and Safety of Ucha-Shinki-Hwan on Korean Patients With Cold Hypersensitivity in the Hands and Feet (UCHA) Not yet recruiting NCT03790033 Phase 2, Phase 3 Ucha-Shinki-Hwan;Placebo
31 Induction Therapy With Anti-TNFα vs Cyclophosphamide in Severe Behçet Disease Not yet recruiting NCT03371095 Phase 3 Infliximab;Cyclophosphamide
32 Canakinumab to Treat Neonatal-Onset Multisystem Inflammatory Disease Terminated NCT00770601 Phase 3 Canakinumab
33 Efficacy and Safety Study of Gevokizumab to Treat Behcet's Disease Uveitis Terminated NCT02258867 Phase 3 Placebo;Gevokizumab
34 Efficacy of Gevokizumab in the Treatment of Patients With Behçet's Disease Uveitis (EYEGUARD™-B) Terminated NCT01965145 Phase 3 Gevokizumab;Placebo
35 Controlled Ceasing of Colchicine Therapy in Familial Mediterranean Fever (FMF) Patients With Single MEFV (Mediterranean Fever) Gene Mutation Unknown status NCT02175589 Phase 2
36 The Efficacy and Safety of ITF2357 in AIS Unknown status NCT00442182 Phase 2 ITF2357
37 Efficacy and Safety of Canakinumab in Patients With Colchicine Resistant Familial Mediterranean Fever Completed NCT01088880 Phase 2 Canakinumab
38 Rilonacept for Treatment of Familial Mediterranean Fever (FMF) Completed NCT00582907 Phase 2 Rilonacept;Placebo
39 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
40 Interleukin-1 Trap to Treat Autoinflammatory Diseases Completed NCT00094900 Phase 2 IL-1 Trap
41 Ilaris (Canakinumab) in the Schnitzler Syndrome Completed NCT01245127 Phase 2 Ilaris
42 Rilonacept for Deficiency of the Interleukin-1 Receptor Antagonist (DIRA) Completed NCT01801449 Phase 2 Rilonacept
43 Efficacy and Safety Study of ACZ885 in Patients With Active Recurrent or Chronic TNF-receptor Associated Periodic Syndrome (TRAPS). Completed NCT01242813 Phase 2 ACZ885
44 Safety and Tolerability of Rilonacept in Muckle-Wells Syndrome (MWS) or Schnitzler Syndrome (SchS) Completed NCT01045772 Phase 2 rilonacept
45 Intravitreal Infliximab in Refractory Uveitis in Behcet's Disease: A Safety and Efficacy Clinical Study Completed NCT02620618 Phase 1, Phase 2 Intravitreal Infliximab
46 Canakinumab in Patients With Active Hyper-IgD Syndrome Completed NCT01303380 Phase 2 Canakinumab
47 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
48 Colchicine Randomized Double-Blind Controlled Crossover Study in Behcet's Disease Completed NCT00700297 Phase 2 Colchicine;Placebo
49 Rituximab for the Treatment of Severe Ocular Manifestations of Behcet's Disease Completed NCT00664599 Phase 2 Rituximab;Cytotoxic Combination
50 Low Dose Interferon Alpha Treatment for Oral Ulcers of Behcet's Disease Completed NCT00483184 Phase 2

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, Neutrophil, Brain, Spinal Cord, Bone

Publications for Familial Mediterranean Fever

Articles related to Familial Mediterranean Fever:

(show top 50) (show all 1317)
# 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
Serum, salivary, and tissue levels of plasminogen in familial Mediterranean fever, amyloidosis, and chronic periodontitis. ( 29520774 )
2018
36
Familial Mediterranean fever and periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome: shared features and main differences. ( 30019226 )
2018
37
Familial Mediterranean Fever Is Commonly Diagnosed in Children in Israel with Periodic Fever Aphthous Stomatitis, Pharyngitis, and Adenitis Syndrome. ( 30361059 )
2018
38
S100A12 and vascular endothelial growth factor can differentiate Blau syndrome and familial Mediterranean fever from systemic juvenile idiopathic arthritis. ( 30406853 )
2018
39
A novel treatment of temporomandibular joint arthritis as a complication in familial Mediterranean fever-literature review and a case report. ( 30341473 )
2018
40
Atypical type of familial Mediterranean fever: An underdiagnosed cause of chronic aseptic meningitis. ( 30546872 )
2018
41
Familial Mediterranean Fever Imitating Lupus Flare: A Rare Coexistence of an Autoimmune Disease With an Autoinflammatory Disease. ( 29200027 )
2018
42
Which definition should be used to determine colchicine resistance among patients with familial Mediterranean fever? ( 30418112 )
2018
43
Increased Corneal Ectasia Risk in Patients with Familial Mediterranean Fever. ( 30482054 )
2018
44
An International Delphi Survey for the Definition of New Classification Criteria for Familial Mediterranean Fever, Mevalonate Kinase Deficiency, TNF Receptor-associated Periodic Fever Syndromes, and Cryopyrin-associated Periodic Syndrome. ( 30385706 )
2018
45
A familial mediterranean fever flare induced by a drug reaction with eosinophilia and systemic symptoms. ( 28653374 )
2018
46
MEFV gene testing may guide physicians for early diagnosis of familial Mediterranean fever. ( 29314663 )
2018
47
Boundaries between familial Mediterranean fever and juvenile spondyloarthritis: Analysis of three French retrospective cohorts. ( 29452306 )
2018
48
Familial Mediterranean fever mimicking Crohn disease: A case report. ( 29505533 )
2018
49
Five Cases of Familial Mediterranean Fever in Japan: The Relationship with MEFV Mutations. ( 29526930 )
2018
50
GSDMD is critical for autoinflammatory pathology in a mouse model of Familial Mediterranean Fever. ( 29793924 )
2018

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 540)
# Gene Variation Type Significance SNP ID Assembly Location
1 MEFV NM_000243.2(MEFV): c.2080A> G (p.Met694Val) single nucleotide variant Pathogenic/Likely pathogenic rs61752717 GRCh37 Chromosome 16, 3293407: 3293407
2 MEFV NM_000243.2(MEFV): c.2080A> G (p.Met694Val) single nucleotide variant Pathogenic/Likely 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.442G> C (p.Glu148Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs3743930 GRCh37 Chromosome 16, 3304626: 3304626
8 MEFV NM_000243.2(MEFV): c.442G> C (p.Glu148Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs3743930 GRCh38 Chromosome 16, 3254626: 3254626
9 MEFV NM_000243.2(MEFV): c.501G> C (p.Glu167Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs104895079 GRCh37 Chromosome 16, 3304567: 3304567
10 MEFV NM_000243.2(MEFV): c.501G> C (p.Glu167Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs104895079 GRCh38 Chromosome 16, 3254567: 3254567
11 MEFV NM_000243.2(MEFV): c.800C> T (p.Thr267Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs104895081 GRCh37 Chromosome 16, 3304268: 3304268
12 MEFV NM_000243.2(MEFV): c.800C> T (p.Thr267Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs104895081 GRCh38 Chromosome 16, 3254268: 3254268
13 MEFV NM_000243.2(MEFV): c.1437C> G (p.Phe479Leu) single nucleotide variant Pathogenic rs104895083 GRCh37 Chromosome 16, 3297166: 3297166
14 MEFV NM_000243.2(MEFV): c.1437C> G (p.Phe479Leu) single nucleotide variant Pathogenic rs104895083 GRCh38 Chromosome 16, 3247166: 3247166
15 MEFV NM_000243.2(MEFV): c.2084A> G (p.Lys695Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs104895094 GRCh37 Chromosome 16, 3293403: 3293403
16 MEFV NM_000243.2(MEFV): c.2084A> G (p.Lys695Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs104895094 GRCh38 Chromosome 16, 3243403: 3243403
17 MEFV NM_000243.2(MEFV): c.2230G> T (p.Ala744Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs61732874 GRCh37 Chromosome 16, 3293257: 3293257
18 MEFV NM_000243.2(MEFV): c.2230G> T (p.Ala744Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs61732874 GRCh38 Chromosome 16, 3243257: 3243257
19 MEFV NM_000243.2(MEFV): c.2282G> A (p.Arg761His) single nucleotide variant Pathogenic/Likely pathogenic rs104895097 GRCh37 Chromosome 16, 3293205: 3293205
20 MEFV NM_000243.2(MEFV): c.2282G> A (p.Arg761His) single nucleotide variant Pathogenic/Likely pathogenic rs104895097 GRCh38 Chromosome 16, 3243205: 3243205
21 MEFV NM_000243.2(MEFV): c.2040G> A (p.Met680Ile) single nucleotide variant Pathogenic rs28940580 GRCh37 Chromosome 16, 3293447: 3293447
22 MEFV NM_000243.2(MEFV): c.2040G> A (p.Met680Ile) single nucleotide variant Pathogenic rs28940580 GRCh38 Chromosome 16, 3243447: 3243447
23 MEFV NM_000243.2(MEFV): c.1105C> T (p.Pro369Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs11466023 GRCh37 Chromosome 16, 3299586: 3299586
24 MEFV NM_000243.2(MEFV): c.1105C> T (p.Pro369Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs11466023 GRCh38 Chromosome 16, 3249586: 3249586
25 MEFV NM_000243.2(MEFV): c.1223G> A (p.Arg408Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs11466024 GRCh37 Chromosome 16, 3299468: 3299468
26 MEFV NM_000243.2(MEFV): c.1223G> A (p.Arg408Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs11466024 GRCh38 Chromosome 16, 3249468: 3249468
27 MEFV NM_000243.2(MEFV): c.1958G> A (p.Arg653His) single nucleotide variant Pathogenic rs104895085 GRCh37 Chromosome 16, 3293529: 3293529
28 MEFV NM_000243.2(MEFV): c.1958G> A (p.Arg653His) single nucleotide variant Pathogenic rs104895085 GRCh38 Chromosome 16, 3243529: 3243529
29 MEFV NM_000243.2(MEFV): c.443A> T (p.Glu148Val) single nucleotide variant Uncertain significance rs104895076 GRCh37 Chromosome 16, 3304625: 3304625
30 MEFV NM_000243.2(MEFV): c.443A> T (p.Glu148Val) single nucleotide variant Uncertain significance rs104895076 GRCh38 Chromosome 16, 3254625: 3254625
31 MEFV NM_000243.2(MEFV): c.2081_2083delTGA (p.Met694del) deletion Pathogenic rs104895091 GRCh38 Chromosome 16, 3243404: 3243406
32 MEFV NM_000243.2(MEFV): c.2081_2083delTGA (p.Met694del) deletion Pathogenic rs104895091 GRCh37 Chromosome 16, 3293404: 3293406
33 MEFV NM_000243.2(MEFV): c.1432C> T (p.His478Tyr) single nucleotide variant Pathogenic rs104895105 GRCh37 Chromosome 16, 3297171: 3297171
34 MEFV NM_000243.2(MEFV): c.1432C> T (p.His478Tyr) single nucleotide variant Pathogenic rs104895105 GRCh38 Chromosome 16, 3247171: 3247171
35 MEFV NM_000243.2(MEFV): c.1016C> T (p.Ser339Phe) single nucleotide variant Uncertain significance rs104895157 GRCh37 Chromosome 16, 3299675: 3299675
36 MEFV NM_000243.2(MEFV): c.1016C> T (p.Ser339Phe) single nucleotide variant Uncertain significance rs104895157 GRCh38 Chromosome 16, 3249675: 3249675
37 MEFV NM_000243.2(MEFV): c.1260+10C> T single nucleotide variant Benign rs104895137 GRCh37 Chromosome 16, 3299421: 3299421
38 MEFV NM_000243.2(MEFV): c.1260+10C> T single nucleotide variant Benign rs104895137 GRCh38 Chromosome 16, 3249421: 3249421
39 MEFV NM_000243.2(MEFV): c.1318C> G (p.Gln440Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs11466026 GRCh37 Chromosome 16, 3298947: 3298947
40 MEFV NM_000243.2(MEFV): c.1318C> G (p.Gln440Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs11466026 GRCh38 Chromosome 16, 3248947: 3248947
41 MEFV NM_000243.2(MEFV): c.1422G> A (p.Glu474=) single nucleotide variant Benign/Likely benign rs224208 GRCh37 Chromosome 16, 3297181: 3297181
42 MEFV NM_000243.2(MEFV): c.1422G> A (p.Glu474=) single nucleotide variant Benign/Likely benign rs224208 GRCh38 Chromosome 16, 3247181: 3247181
43 MEFV NM_000243.2(MEFV): c.1503C> T (p.Arg501=) single nucleotide variant Benign rs76464258 GRCh37 Chromosome 16, 3297100: 3297100
44 MEFV NM_000243.2(MEFV): c.1503C> T (p.Arg501=) single nucleotide variant Benign rs76464258 GRCh38 Chromosome 16, 3247100: 3247100
45 MEFV NM_000243.2(MEFV): c.1518C> T (p.Ile506=) single nucleotide variant Conflicting interpretations of pathogenicity rs104895099 GRCh37 Chromosome 16, 3297085: 3297085
46 MEFV NM_000243.2(MEFV): c.1518C> T (p.Ile506=) single nucleotide variant Conflicting interpretations of pathogenicity rs104895099 GRCh38 Chromosome 16, 3247085: 3247085
47 MEFV NM_000243.2(MEFV): c.1530T> C (p.Asp510=) single nucleotide variant Benign/Likely benign rs224206 GRCh37 Chromosome 16, 3297073: 3297073
48 MEFV NM_000243.2(MEFV): c.1530T> C (p.Asp510=) single nucleotide variant Benign/Likely benign rs224206 GRCh38 Chromosome 16, 3247073: 3247073
49 MEFV NM_000243.2(MEFV): c.1759+8C> T single nucleotide variant Benign rs77380520 GRCh37 Chromosome 16, 3294246: 3294246
50 MEFV NM_000243.2(MEFV): c.1759+8C> T single nucleotide variant Benign rs77380520 GRCh38 Chromosome 16, 3244246: 3244246

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
13.79 CASP1 CRP IL1B IL1RN MEFV NLRP3
2
Show member pathways
13.16 CASP1 IL1B IL1RN NOD2 SAA1 TNF
3
Show member pathways
12.65 CASP1 IL1B NLRP3 TNF TNFRSF1A
4
Show member pathways
12.48 CASP1 IL1B TNF TNFRSF1A
5 12.42 IL1B IL1RN TNF TNFRSF1A
6
Show member pathways
12.41 CASP1 IL1B MEFV NLRP3 NOD2 PSTPIP1
7
Show member pathways
12.17 CASP1 IL1B IL1RN NOD2
8 12.09 IL1B NOD2 TNF TNFRSF1A
9
Show member pathways
12.06 CASP1 IL1B NLRP3 TNF
10
Show member pathways
12 CASP1 IL1B NLRP3 TNF TNFRSF1A
11
Show member pathways
11.97 CRP IL1B SAA1 SAA2 SAA4 TNF
12 11.96 IL1B TNF TNFRSF1A
13 11.92 IL1B TNF TNFRSF1A
14
Show member pathways
11.89 CASP1 TNF TNFRSF1A
15
Show member pathways
11.85 CASP1 TNF TNFRSF1A
16 11.84 IL1B SAA1 TNF
17 11.84 IL1B NOD2 TNF TNFRSF1A
18 11.75 IL1B TNF TNFRSF1A
19
Show member pathways
11.72 CASP1 MEFV NLRP3 NOD2 PSTPIP1
20 11.62 IL1B IL1RN TNF
21 11.59 CASP1 IL1B NLRP3 TNF
22
Show member pathways
11.55 IL1B TNF TNFRSF1A
23 11.46 CASP1 IL1B TNF
24 11.31 IL1B IL1RN TNF TNFRSF1A
25 11.01 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 10.43 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 region GO:0005576 9.86 CRP IL1B IL1RN NLRP3 SAA1 SAA4
2 extracellular space GO:0005615 9.56 CRP IL1B IL1RN SAA1 SAA2 SAA4
3 NLRP3 inflammasome complex GO:0072559 9.16 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 49)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.97 CRP MEFV NLRP3 NOD2 PSTPIP1 SAA1
2 cytokine-mediated signaling pathway GO:0019221 9.88 CASP1 IL1B IL1RN SAA1 TNF TNFRSF1A
3 defense response to Gram-positive bacterium GO:0050830 9.87 CRP NLRP3 TNF
4 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.86 CASP1 NLRP3 TNF
5 cell chemotaxis GO:0060326 9.86 SAA1 SAA2 SAA4
6 neutrophil chemotaxis GO:0030593 9.86 IL1B IL1RN SAA1
7 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.86 IL1B NLRP3 NOD2 TNF
8 cellular response to mechanical stimulus GO:0071260 9.85 CASP1 IL1B TNFRSF1A
9 defense response GO:0006952 9.85 NLRP3 NOD2 TNF TNFRSF1A
10 cellular response to organic cyclic compound GO:0071407 9.84 IL1B NOD2 TNF
11 regulation of inflammatory response GO:0050727 9.83 NLRP3 NOD2 TNF
12 response to glucocorticoid GO:0051384 9.83 IL1B IL1RN TNF
13 activation of MAPK activity GO:0000187 9.81 IL1B NOD2 SAA1 TNF
14 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.8 IL1B NOD2 TNF
15 interleukin-1-mediated signaling pathway GO:0070498 9.79 IL1B IL1RN NOD2
16 positive chemotaxis GO:0050918 9.78 SAA1 SAA2 SAA4
17 positive regulation of JNK cascade GO:0046330 9.78 IL1B IL1RN NOD2 TNF
18 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.77 CASP1 NLRP3 TNF
19 positive regulation of JUN kinase activity GO:0043507 9.77 IL1B IL1RN TNF
20 positive regulation of interleukin-6 production GO:0032755 9.76 IL1B IL1RN NOD2 TNF
21 negative regulation of inflammatory response GO:0050728 9.72 MEFV MVK NLRP3 SAA1 TNFRSF1A
22 negative regulation of lipid catabolic process GO:0050995 9.71 IL1B TNF
23 positive regulation of interleukin-1 beta secretion GO:0050718 9.71 CASP1 NLRP3 NOD2
24 positive regulation of glial cell proliferation GO:0060252 9.7 IL1B TNF
25 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.7 IL1B TNF
26 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.7 IL1B TNF
27 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.7 IL1B TNF
28 positive regulation of interleukin-8 production GO:0032757 9.7 IL1B NOD2 TNF
29 regulation of protein secretion GO:0050708 9.69 SAA1 TNF
30 negative regulation of lipid storage GO:0010888 9.68 CRP TNF
31 positive regulation of ceramide biosynthetic process GO:2000304 9.68 TNF TNFRSF1A
32 death-inducing signaling complex assembly GO:0071550 9.67 TNF TNFRSF1A
33 positive regulation of chemokine biosynthetic process GO:0045080 9.67 IL1B TNF
34 acute-phase response GO:0006953 9.67 CRP SAA1 SAA2 SAA4
35 negative regulation of glutamate secretion GO:0014050 9.65 IL1B IL1RN
36 cellular response to peptidoglycan GO:0071224 9.65 NLRP3 NOD2
37 positive regulation of neuroinflammatory response GO:0150078 9.64 IL1B TNF
38 positive regulation of type 2 immune response GO:0002830 9.64 NLRP3 NOD2
39 interleukin-1 beta production GO:0032611 9.63 IL1B NLRP3
40 positive regulation of fever generation GO:0031622 9.63 IL1B TNF
41 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.63 CASP1 IL1B IL1RN NOD2 TNF TNFRSF1A
42 sequestering of triglyceride GO:0030730 9.61 IL1B TNF
43 regulation of establishment of endothelial barrier GO:1903140 9.61 IL1B TNF TNFRSF1A
44 cytokine secretion involved in immune response GO:0002374 9.58 NLRP3 NOD2
45 detection of biotic stimulus GO:0009595 9.58 NLRP3 NOD2
46 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.57 IL1B TNF
47 chronic inflammatory response to antigenic stimulus GO:0002439 9.43 IL1B IL1RN TNF
48 cellular response to lipopolysaccharide GO:0071222 9.43 CASP1 IL1B IL1RN NLRP3 NOD2 TNF
49 inflammatory response GO:0006954 9.23 CRP IL1B IL1RN MEFV NLRP3 PSTPIP1

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

# Name GO ID Score Top Affiliating Genes
1 peptidoglycan binding GO:0042834 9.32 NLRP3 NOD2
2 CARD domain binding GO:0050700 9.26 CASP1 NOD2
3 identical protein binding GO:0042802 9.17 CASP1 CRP MEFV MVK NLRP3 PSTPIP1
4 interleukin-1 receptor binding GO:0005149 9.16 IL1B IL1RN
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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