ARFMF
MCID: FML161
MIFTS: 63

Familial Mediterranean Fever, Ar (ARFMF) malady

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

Aliases & Classifications for Familial Mediterranean Fever, Ar

Aliases & Descriptions for Familial Mediterranean Fever, Ar:

Name: Familial Mediterranean Fever, Ar 54 13
Familial Mediterranean Fever 12 23 50 24 25 56 52 42 14 69
Benign Paroxysmal Peritonitis 12 50 25 56
Recurrent Polyserositis 23 50 24 25
Familial Paroxysmal Polyserositis 50 25 56
Fmf 50 25 56
Mediterranean Fever, Familial 71 29
Periodic Disease 50 56
Periodic Fever 50 69
Familial Mediterranean Fever, Autosomal Recessive 66
Hereditary Autoinflammatory Diseases 69
Benign Recurrent Polyserositis 56
Siegal-Cattan-Mamou Disease 25
Reimann Periodic Disease 25
Wolff Periodic Disease 25
Periodic Peritonitis 50
Arfmf 66
Mef 25

Characteristics:

Orphanet epidemiological data:

56
familial mediterranean fever
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

HPO:

32
familial mediterranean fever, ar:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 249100
Disease Ontology 12 DOID:2987
ICD10 33 E85.0
ICD9CM 35 277.31
MeSH 42 D010505
NCIt 47 C84707
SNOMED-CT 64 12579009
Orphanet 56 ORPHA342
MESH via Orphanet 43 D010505
UMLS via Orphanet 70 C0031069 C0585274
ICD10 via Orphanet 34 E85.0
MedGen 40 C0031069
UMLS 69 C0031069

Summaries for Familial Mediterranean Fever, Ar

NIH Rare Diseases : 50 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). last updated: 12/8/2015

MalaCards based summary : Familial Mediterranean Fever, Ar, also known as familial mediterranean fever, is related to celiac disease and rheumatoid arthritis, and has symptoms including arthralgia, constipation and myalgia. An important gene associated with Familial Mediterranean Fever, Ar is MEFV (MEFV, Pyrin Innate Immunity Regulator), and among its related pathways/superpathways are Innate Immune System and Toll-Like receptor Signaling Pathways. The drugs Methylprednisolone and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and kidney, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and hematopoietic system

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.

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 : 54 Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and... (249100) more...

UniProtKB/Swiss-Prot : 66 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.

GeneReviews: NBK1227

Related Diseases for Familial Mediterranean Fever, Ar

Diseases in the Familial Mediterranean Fever, Ar family:

Familial Mediterranean Fever, Ad Familial Mediterranean Fever Type 1
Familial Mediterranean Fever Type 2

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

(show top 50) (show all 164)
id Related Disease Score Top Affiliating Genes
1 celiac disease 29.8 CRP TNF TNFRSF1A
2 rheumatoid arthritis 29.3 CRP IL1B SAA1 TNF TNFRSF1A
3 familial mediterranean fever, ad 12.3
4 familial mediterranean fever type 1 12.0
5 familial mediterranean fever type 2 12.0
6 amyloidosis, hereditary, transthyretin-related 10.9
7 amyloidosis aa 10.9
8 amyloidosis 10.6
9 periodic fever, aphthous stomatitis, pharyngitis and adenitis 10.4
10 arthritis 10.3
11 invasive aspergillosis 10.2 MEFV NLRP3
12 oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies 10.2 MEFV TNFRSF1A
13 spondylocostal dysostosis-hypospadias-intellectual disability syndrome 10.2 MEFV TNFRSF1A
14 polyarteritis nodosa 10.2
15 myeloid neoplasms associated with pdgfrb rearrangement 10.2 MEFV TNF
16 malignant perineurioma 10.2 MEFV TNFRSF1A
17 colchicine resistance 10.2
18 pulmonary artery coming from the aorta 10.2 MEFV NLRP3 PSTPIP1
19 tetanus 10.1 MEFV TNF
20 cutaneous sclerosis 10.1 CRP NLRP3
21 glomerulonephritis 10.1
22 nemaline myopathy 1, autosomal dominant or recessive 10.1 PSTPIP1 TNF
23 deafness, autosomal recessive 25 10.1 NLRP3 TNFRSF1A
24 natural killer cell leukemia 10.1 CRP NLRP3
25 autosomal recessive pericentral pigmentary retinopathy 10.1 TNF TNFRSF1A
26 lupus erythematosus 10.1
27 systemic lupus erythematosus 10.1
28 diverticulitis of colon 10.1 CRP SAA1
29 kidney leiomyosarcoma 10.1 MEFV TNFRSF1A
30 multiple epiphyseal dysplasia 10.1 TNF TNFRSF1A
31 spondyloarthropathy 10.1
32 erysipelas 10.1
33 crohn's disease 10.1
34 van maldergem syndrome 2 10.1 MEFV SAA1 TNFRSF1A
35 histiocytoma 10.1 MEFV PSTPIP1 TNF
36 chromosome 16p11.2 duplication syndrome autism, susceptibility to, 14b, included 10.1 CASP1 IL1B
37 unilateral multicystic dysplastic kidney 10.1 CRP TNF
38 hard palate cancer 10.1 MEFV SAA1 TNFRSF1A
39 spermatocele 10.1 CASP1 CRP
40 anaplastic ganglioglioma 10.1 CRP MEFV SAA1
41 swine influenza 10.1 CRP TNF
42 vasculitis 10.1
43 thyroiditis 10.1
44 egg allergy 10.0 IL1B NLRP3
45 intussusception 10.0 IL1B TNF
46 bazex syndrome 10.0 CRP TNFRSF1A
47 stocco dos santos syndrome 10.0 IL1B TNF
48 dermatomycosis 10.0 CRP MEFV TNF
49 strawberry gallbladder 10.0 CRP MEFV TNF
50 myiasis 10.0 CRP MEFV TNF

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



Diseases related to Familial Mediterranean Fever, Ar

Symptoms & Phenotypes for Familial Mediterranean Fever, Ar

Symptoms by clinical synopsis from OMIM:

249100

Clinical features from OMIM:

249100

Human phenotypes related to Familial Mediterranean Fever, Ar:

56 32 (show all 42)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 56 32 Very frequent (99-80%) HP:0002829
2 constipation 56 32 Very frequent (99-80%) HP:0002019
3 myalgia 56 32 Very frequent (99-80%) HP:0003326
4 fever 56 32 Very frequent (99-80%) HP:0001945
5 seizures 56 32 Frequent (79-30%) HP:0001250
6 chest pain 56 32 Frequent (79-30%) HP:0100749
7 abdominal pain 56 32 Very frequent (99-80%) HP:0002027
8 diarrhea 56 32 Frequent (79-30%) HP:0002014
9 nausea and vomiting 56 32 Very frequent (99-80%) HP:0002017
10 osteoarthritis 56 32 Occasional (29-5%) HP:0002758
11 arthritis 56 32 Frequent (79-30%) HP:0001369
12 splenomegaly 56 32 Occasional (29-5%) HP:0001744
13 malabsorption 56 32 Occasional (29-5%) HP:0002024
14 proteinuria 56 32 Frequent (79-30%) HP:0000093
15 nephropathy 56 32 Occasional (29-5%) HP:0000112
16 arrhythmia 56 32 Occasional (29-5%) HP:0011675
17 ascites 56 32 Occasional (29-5%) HP:0001541
18 myocardial infarction 56 32 Occasional (29-5%) HP:0001658
19 nephrotic syndrome 56 32 Occasional (29-5%) HP:0000100
20 pancreatitis 56 32 Occasional (29-5%) HP:0001733
21 intestinal obstruction 56 32 Occasional (29-5%) HP:0005214
22 nephrocalcinosis 56 32 Occasional (29-5%) HP:0000121
23 erythema 56 32 Frequent (79-30%) HP:0010783
24 pericarditis 56 32 Occasional (29-5%) HP:0001701
25 skin rash 56 32 Occasional (29-5%) HP:0000988
26 meningitis 56 32 Occasional (29-5%) HP:0001287
27 acute hepatic failure 56 32 Occasional (29-5%) HP:0006554
28 vasculitis 56 32 Occasional (29-5%) HP:0002633
29 gastrointestinal infarctions 56 32 Occasional (29-5%) HP:0005244
30 lymphadenopathy 56 32 Occasional (29-5%) HP:0002716
31 peritonitis 56 32 Occasional (29-5%) HP:0002586
32 edema of the lower limbs 56 32 Occasional (29-5%) HP:0010741
33 oral leukoplakia 56 32 Frequent (79-30%) HP:0002745
34 pleuritis 56 32 Frequent (79-30%) HP:0002102
35 orchitis 56 32 Occasional (29-5%) HP:0100796
36 elevated erythrocyte sedimentation rate 56 32 Occasional (29-5%) HP:0003565
37 erysipelas 56 32 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, Ar:


abdominal pain, arthralgia, fever

GenomeRNAi Phenotypes related to Familial Mediterranean Fever, Ar according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.62 TNF TNFRSF1A CASP1 IL1B NLRP3
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.62 TNF TNFRSF1A CASP1 IL1B NLRP3

MGI Mouse Phenotypes related to Familial Mediterranean Fever, Ar:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.8 CASP1 IL1B MEFV NLRP3 PSTPIP1 TNF
2 homeostasis/metabolism MP:0005376 9.76 CASP1 CRP IL1B MEFV NLRP3 SAA1
3 immune system MP:0005387 9.56 TNF TNFRSF1A CASP1 CRP IL1B MEFV
4 integument MP:0010771 9.1 CASP1 IL1B MEFV NLRP3 TNF TNFRSF1A

Drugs & Therapeutics for Familial Mediterranean Fever, Ar

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

(show top 50) (show all 226)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
2
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 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 64-86-8 6167 2833
5
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
6
Ibuprofen Approved Phase 4 15687-27-1 3672
7
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
8
Ginseng Approved, Nutraceutical Phase 4 50647-08-0
9 Antiemetics Phase 4,Phase 3
10 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
11 Antineoplastic Agents, Hormonal Phase 4,Phase 3
12 Autonomic Agents Phase 4,Phase 3
13 Gastrointestinal Agents Phase 4,Phase 3,Phase 1,Phase 2
14 glucocorticoids Phase 4,Phase 3
15 Hormone Antagonists Phase 4,Phase 3
16 Hormones Phase 4,Phase 3
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
18 Methylprednisolone acetate Phase 4,Phase 3,Phase 2
19 Methylprednisolone Hemisuccinate Phase 4,Phase 3,Phase 2
20 Neuroprotective Agents Phase 4
21 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
22 Prednisolone acetate Phase 4,Phase 3,Phase 2
23 Prednisolone hemisuccinate Phase 4,Phase 3,Phase 2
24 Prednisolone phosphate Phase 4,Phase 3,Phase 2
25 Protective Agents Phase 4
26 Antimitotic Agents Phase 4,Phase 3,Phase 2,Phase 1
27 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
28 Analgesics Phase 4,Phase 3,Phase 2
29 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2
30 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2
31 Dermatologic Agents Phase 4,Phase 3,Phase 1,Phase 2
32 Cyclooxygenase 2 Inhibitors Phase 4
33 Cyclooxygenase Inhibitors Phase 4
34 Pharmaceutical Solutions Phase 4,Phase 3,Phase 1
35
Cyclosporine Approved, Investigational, Vet_approved Phase 3 79217-60-0, 59865-13-3 5284373 6435893
36
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
37
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1 50-18-0, 6055-19-2 2907
38
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
39
Lenalidomide Approved Phase 3,Phase 2 191732-72-6 216326
40
Adalimumab Approved Phase 3 331731-18-1 16219006
41
Fluoxetine Approved, Vet_approved Phase 3 54910-89-3 3386
42
Tofacitinib Approved, Investigational Phase 3 477600-75-2
43
Vildagliptin Approved, Investigational Phase 2, Phase 3 274901-16-5 6918537
44
Paroxetine Approved, Investigational Phase 3 61869-08-7 43815
45
Apixaban Approved Phase 3 503612-47-3 10182969
46
Warfarin Approved Phase 3 81-81-2 6691 54678486
47
Infliximab Approved Phase 3,Phase 1,Phase 2 170277-31-3
48
Carboplatin Approved Phase 3,Phase 1 41575-94-4 10339178 498142 38904
49
Pancrelipase Approved Phase 3,Phase 2 53608-75-6
50
Apremilast Approved, Investigational Phase 3,Phase 2 608141-41-9 11561674

Interventional clinical trials:

(show top 50) (show all 169)
id Name Status NCT ID Phase
1 The Efficacy of Methylprednisolone in the Treatment of Patients With Ocular Involvement in Behcet's Disease Unknown status NCT01306955 Phase 4
2 Flucinolone Acetonide Implant for Treating Refractory Ocular Behcet's Disease Unknown status NCT00720928 Phase 4
3 The Comparison of the Efficacy of Once and Twice Daily Colchicine Dosage in Pediatric Patients With FMF Completed NCT02602028 Phase 4
4 Effect of Korean Red Ginseng on Women With Cold Hypersensitivity of Hands and Feet Completed NCT01664156 Phase 4
5 Safety and Acceptability of the PrePex™ Device for Male Circumcision in Zambia Completed NCT01844102 Phase 4
6 Prospective Randomized Evaluation Of Celecoxib Integrated Safety Vs Ibuprofen Or Naproxen Completed NCT00346216 Phase 4
7 Efficacy and Safety of Danggui-Sayuk-Ga-Osuyu-Saenggang-tang on Korean Patients With Cold Hypersensitivity in the Hands Recruiting NCT02645916 Phase 4
8 Saline vs. Lactated Ringers for Emergency Department IV Fluid Resuscitation Not yet recruiting NCT03133767 Phase 4
9 Assessment and Tracking of Long-term Alefacept Safety Terminated NCT00454701 Phase 4
10 Interferon-alpha2a Versus Cyclosporin A for Severe Ocular Behcet`s Disease (INCYTOB) Unknown status NCT00167583 Phase 3
11 Kineret (Anakinra), in Adult Patients With Colchicine-Resistant Familial Mediterranean Fever Completed NCT01705756 Phase 3
12 An Extention Study of Safety of Canakinumab in Japanese Patients With Periodic Fever Syndromes Completed NCT02911857 Phase 3
13 Study of the Safety and Efficacy of NC-503 in Secondary (AA) Amyloidosis Completed NCT00035334 Phase 2, Phase 3
14 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
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 NCT01576367 Phase 3
16 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
17 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
18 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
19 Efficacy, Safety, and Tolerability of ACZ885 in Patients With Muckle-Wells Syndrome Completed NCT00465985 Phase 3
20 Clinical Study of TA-650 in Patients With Behcet's Disease (BD) With Special Lesions Completed NCT01532570 Phase 3
21 Efficacy of Humira in Behcet Patients With Arthritis Completed NCT01497717 Phase 3
22 A Study of Adalimumab in Japanese Subjects With Intestinal Behçet's Disease Completed NCT01243671 Phase 3
23 Phase III Study in Refractory Behcet's Disease Completed NCT00995709 Phase 3
24 Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS) Completed NCT00288704 Phase 3
25 Echinacea Versus Placebo Effect in Common Cold (Physician Echinacea Placebo) Completed NCT00065715 Phase 3
26 Meditation and Exercise for Prevention of Acute Respiratory Infection Completed NCT01057771 Phase 2, Phase 3
27 Treatment for Adolescents With Depression Study (TADS) Completed NCT00006286 Phase 3
28 Open-Label C1 Esterase Inhibitor (C1INH-nf) for the Prevention of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00462709 Phase 3
29 Open-Label C1 Esterase Inhibitor (C1INH-nf) for the Treatment of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00438815 Phase 3
30 C1 Esterase Inhibitor (C1INH-nf) for the Treatment of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00289211 Phase 3
31 A One-Year Study To Evaluate The Efficacy And Safety Of CP-690,550 For Patients With Moderate To Severe Chronic Plaque Psoriasis Completed NCT01309737 Phase 3
32 Efficacy and Long-Term Safety of Vildagliptin as Monotherapy in Patients With Type 2 Diabetes Completed NCT00821977 Phase 2, Phase 3
33 Vardenafil Orodispersible Tablet (ODT) Versus Placebo in Males With Erectile Dysfunction, 50% of Whom Are to be 65 Years or Older. Completed NCT00655629 Phase 3
34 24-Week Efficacy & Safety Study of Brisdelle™ (Formerly Known as Mesafem) in the Treatment of Vasomotor Symptoms Completed NCT01101841 Phase 3
35 Apixaban for the Prevention of Stroke in Subjects With Atrial Fibrillation Completed NCT00412984 Phase 3
36 Locomotor Experience Applied Post Stroke Trial Completed NCT00243919 Phase 3
37 A Study of Canakinumab in Patients With Systemic Juvenile Idiopathic Arthritis or Hereditary Periodic Fevers Who Participated in the CACZ885G2301E1, CACZ885G2306 or CACZ885N2301 Studies Recruiting NCT02334748 Phase 3
38 A Study to Evaluate Efficacy and Safety of Infliximab in Participant With Moderate-to-Severe Refractory Intestinal Behcet's Disease Recruiting NCT02505568 Phase 3
39 A Study of Rivaroxaban (JNJ-39039039) on the Venous Thromboembolic Risk in Post-Hospital Discharge Patients Recruiting NCT02111564 Phase 3
40 Randomized Global Phase 3 Study to Evaluate the Impact on NASH With Fibrosis of Obeticholic Acid Treatment Recruiting NCT02548351 Phase 3
41 Comparison of Axillary Lymph Node Dissection With Axillary Radiation for Patients With Node-Positive Breast Cancer Treated With Chemotherapy Recruiting NCT01901094 Phase 3
42 High-Dose Recombinant Interferon Alfa-2B, Ipilimumab, or Pembrolizumab in Treating Patients With Stage III-IV High Risk Melanoma That Has Been Removed by Surgery Recruiting NCT02506153 Phase 3
43 Dabrafenib and Trametinib Followed by Ipilimumab and Nivolumab or Ipilimumab and Nivolumab Followed by Dabrafenib and Trametinib in Treating Patients With Stage III-IV BRAFV600 Melanoma Recruiting NCT02224781 Phase 3
44 S1400I Lung-MAP: Nivolumab With or Without Ipilimumab as Second-Line Therapy in Treating Patients With Recurrent Stage IV Squamous Cell Lung Cancer and No Matching Biomarkers Recruiting NCT02785952 Phase 3
45 S1400 Lung-MAP: Biomarker-Targeted Second-Line Therapy in Treating Patients With Recurrent Stage IV Squamous Cell Lung Cancer Recruiting NCT02154490 Phase 2, Phase 3
46 Nivolumab and Ipilimumab With or Without Sargramostim in Treating Patients With Stage III-IV Melanoma That Cannot Be Removed by Surgery Recruiting NCT02339571 Phase 2, Phase 3
47 Tamoxifen Citrate, Letrozole, Anastrozole, or Exemestane With or Without Chemotherapy in Treating Patients With Invasive RxPONDER Breast Cancer Recruiting NCT01272037 Phase 3
48 Erlotinib Hydrochloride in Treating Patients With Stage IB-IIIA Non-small Cell Lung Cancer That Has Been Completely Removed by Surgery (An ALCHEMIST Treatment Trial) Recruiting NCT02193282 Phase 3
49 Nivolumab After Surgery and Chemotherapy in Treating Patients With Stage IB-IIIA Non-small Cell Lung Cancer Recruiting NCT02595944 Phase 3
50 S1207 Hormone Therapy With or Without Everolimus in Treating Patients With Breast Cancer Recruiting NCT01674140 Phase 3

Search NIH Clinical Center for Familial Mediterranean Fever, Ar

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: familial mediterranean fever

Genetic Tests for Familial Mediterranean Fever, Ar

Genetic tests related to Familial Mediterranean Fever, Ar:

id Genetic test Affiliating Genes
1 Familial Mediterranean Fever 29 24 MEFV

Anatomical Context for Familial Mediterranean Fever, Ar

MalaCards organs/tissues related to Familial Mediterranean Fever, Ar:

39
Lung, Heart, Kidney, Brain, Spinal Cord, Bone, Skin

Publications for Familial Mediterranean Fever, Ar

Articles related to Familial Mediterranean Fever, Ar:

id Title Authors Year
1
Nonalcoholic fatty liver disease and familial Mediterranean fever: are they related? ( 23289274 )
2012

Variations for Familial Mediterranean Fever, Ar

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

66 (show all 42)
id 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, Ar:

6 (show all 17)
id 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.2082G> A (p.Met694Ile) single nucleotide variant Pathogenic rs28940578 GRCh37 Chromosome 16, 3293405: 3293405
3 MEFV NM_000243.2(MEFV): c.2177T> C (p.Val726Ala) single nucleotide variant Pathogenic rs28940579 GRCh37 Chromosome 16, 3293310: 3293310
4 MEFV NM_000243.2(MEFV): c.501G> C (p.Glu167Asp) single nucleotide variant Pathogenic rs104895079 GRCh37 Chromosome 16, 3304567: 3304567
5 MEFV NM_000243.2(MEFV): c.800C> T (p.Thr267Ile) single nucleotide variant Pathogenic rs104895081 GRCh37 Chromosome 16, 3304268: 3304268
6 MEFV NM_000243.2(MEFV): c.1437C> G (p.Phe479Leu) single nucleotide variant Pathogenic rs104895083 GRCh37 Chromosome 16, 3297166: 3297166
7 MEFV NM_000243.2(MEFV): c.2230G> T (p.Ala744Ser) single nucleotide variant Pathogenic/Likely pathogenic rs61732874 GRCh37 Chromosome 16, 3293257: 3293257
8 MEFV NM_000243.2(MEFV): c.2282G> A (p.Arg761His) single nucleotide variant Pathogenic rs104895097 GRCh37 Chromosome 16, 3293205: 3293205
9 MEFV NM_000243.2(MEFV): c.2040G> A (p.Met680Ile) single nucleotide variant Pathogenic rs28940580 GRCh37 Chromosome 16, 3293447: 3293447
10 MEFV NM_000243.2(MEFV): c.1958G> A (p.Arg653His) single nucleotide variant Pathogenic rs104895085 GRCh37 Chromosome 16, 3293529: 3293529
11 MEFV NM_000243.2(MEFV): c.2081_2083delTGA (p.Met694del) deletion Pathogenic rs104895091 GRCh38 Chromosome 16, 3243404: 3243406
12 MEFV NM_000243.2(MEFV): c.1432C> T (p.His478Tyr) single nucleotide variant Pathogenic rs104895105 GRCh37 Chromosome 16, 3297171: 3297171
13 MEFV NM_000243.2(MEFV): c.2040G> C (p.Met680Ile) single nucleotide variant Pathogenic rs28940580 GRCh37 Chromosome 16, 3293447: 3293447
14 MEFV NM_000243.2(MEFV): c.2060G> A (p.Gly687Asp) single nucleotide variant Pathogenic rs387907570 GRCh37 Chromosome 16, 3293427: 3293427
15 MEFV NM_000243.2(MEFV): c.2064C> G (p.Tyr688Ter) single nucleotide variant Pathogenic rs104895098 GRCh37 Chromosome 16, 3293423: 3293423
16 MEFV NM_000243.2(MEFV): c.2076_2078delAAT (p.Ile692del) deletion Pathogenic rs104895093 GRCh37 Chromosome 16, 3293409: 3293411
17 MEFV NM_000243.2(MEFV): c.1730C> A (p.Thr577Asn) single nucleotide variant Pathogenic rs1057516210 GRCh38 Chromosome 16, 3244283: 3244283

Copy number variations for Familial Mediterranean Fever, Ar from CNVD:

7
id 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, Ar

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

Pathways for Familial Mediterranean Fever, Ar

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

(show all 34)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.62 CASP1 CRP IL1B MEFV NLRP3 PSTPIP1
2
Show member pathways
12.64 CASP1 IL1B MEFV NLRP3 PSTPIP1 TNF
3
Show member pathways
12.54 CASP1 IL1B SAA1 TNF
4 12.52 CASP1 IL1B TNF TNFRSF1A
5
Show member pathways
12.49 CASP1 IL1B NLRP3 TNF TNFRSF1A
6
Show member pathways
12.44 CASP1 IL1B TNF TNFRSF1A
7
Show member pathways
12.09 IL1B TNF TNFRSF1A
8
Show member pathways
12.09 CRP IL1B SAA1 TNF
9 12.06 IL1B TNF TNFRSF1A
10 11.92 IL1B TNF TNFRSF1A
11 11.86 IL1B TNF TNFRSF1A
12
Show member pathways
11.83 CASP1 TNF TNFRSF1A
13
Show member pathways
11.79 CASP1 TNF TNFRSF1A
14 11.78 IL1B SAA1 TNF
15 11.75 IL1B TNF TNFRSF1A
16 11.68 IL1B TNF TNFRSF1A
17
Show member pathways
11.62 CASP1 MEFV NLRP3 PSTPIP1
18
Show member pathways
11.47 IL1B TNF TNFRSF1A
19 11.39 CASP1 IL1B TNF
20 11.3 IL1B TNF TNFRSF1A
21 11.21 IL1B TNF
22 11.2 IL1B TNF
23 11.16 TNF TNFRSF1A
24 11.16 IL1B TNF
25 11.14 IL1B TNF
26 11.14 CASP1 IL1B NLRP3 TNF
27 11.12 IL1B TNF
28 11.03 IL1B NLRP3
29 10.98 TNF TNFRSF1A
30 10.9 CRP TNF
31 10.79 IL1B TNF
32 10.67 CASP1 IL1B TNF
33 10.54 CASP1 IL1B MEFV NLRP3
34 10.36 CASP1 IL1B

GO Terms for Familial Mediterranean Fever, Ar

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.5 CASP1 CRP IL1B NLRP3 SAA1 TNF
2 NLRP3 inflammasome complex GO:0072559 8.62 CASP1 NLRP3

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

(show all 34)
id Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.93 MEFV NLRP3 PSTPIP1 SAA1
2 response to lipopolysaccharide GO:0032496 9.82 CASP1 IL1B TNFRSF1A
3 defense response GO:0006952 9.79 NLRP3 TNF TNFRSF1A
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.77 IL1B NLRP3 TNF
5 activation of MAPK activity GO:0000187 9.74 IL1B SAA1 TNF
6 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.67 CASP1 NLRP3 TNF
7 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.67 CASP1 IL1B TNF TNFRSF1A
8 protein kinase B signaling GO:0043491 9.66 IL1B TNF
9 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.66 TNF TNFRSF1A
10 lipopolysaccharide-mediated signaling pathway GO:0031663 9.65 IL1B TNF
11 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.65 TNF TNFRSF1A
12 positive regulation of phagocytosis GO:0050766 9.65 IL1B TNF
13 cellular response to mechanical stimulus GO:0071260 9.65 CASP1 IL1B TNFRSF1A
14 positive regulation of interleukin-8 production GO:0032757 9.64 IL1B TNF
15 positive regulation of interleukin-1 beta secretion GO:0050718 9.63 CASP1 NLRP3
16 positive regulation of NF-kappaB import into nucleus GO:0042346 9.62 IL1B TNF
17 response to ATP GO:0033198 9.62 CASP1 IL1B
18 negative regulation of lipid catabolic process GO:0050995 9.61 IL1B TNF
19 regulation of protein secretion GO:0050708 9.6 SAA1 TNF
20 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.58 IL1B TNF
21 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.58 IL1B TNF
22 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.56 IL1B TNF
23 positive regulation of chemokine biosynthetic process GO:0045080 9.55 IL1B TNF
24 negative regulation of lipid storage GO:0010888 9.54 CRP TNF
25 positive regulation of ceramide biosynthetic process GO:2000304 9.52 TNF TNFRSF1A
26 death-inducing signaling complex assembly GO:0071550 9.51 TNF TNFRSF1A
27 positive regulation of cytokine secretion GO:0050715 9.5 CASP1 SAA1 TNF
28 positive regulation of fever generation GO:0031622 9.46 IL1B TNF
29 sequestering of triglyceride GO:0030730 9.43 IL1B TNF
30 regulation of establishment of endothelial barrier GO:1903140 9.43 IL1B TNF TNFRSF1A
31 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.4 IL1B TNF
32 negative regulation of inflammatory response GO:0050728 9.35 MEFV MVK NLRP3 SAA1 TNFRSF1A
33 interleukin-1 beta production GO:0032611 9.33 CASP1 IL1B NLRP3
34 inflammatory response GO:0006954 9.17 CRP IL1B MEFV NLRP3 PSTPIP1 TNF

Sources for Familial Mediterranean Fever, Ar

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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