MCID: FML161
MIFTS: 61

Familial Mediterranean Fever, Ar

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

Aliases & Classifications for Familial Mediterranean Fever, Ar

MalaCards integrated aliases for Familial Mediterranean Fever, Ar:

Name: Familial Mediterranean Fever, Ar 54 13
Familial Mediterranean Fever 12 23 50 24 25 56 29 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
Periodic Disease 50 56
Periodic Fever 50 69
Familial Mediterranean Fever, Autosomal Recessive 71
Hereditary Autoinflammatory Diseases 69
Benign Recurrent Polyserositis 56
Mediterranean Fever, Familial 72
Siegal-Cattan-Mamou Disease 25
Reimann Periodic Disease 25
Wolff Periodic Disease 25
Periodic Peritonitis 50
Arfmf 71
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;

OMIM:

54
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, ar:
Inheritance autosomal recessive inheritance


Classifications:



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 hyper-igd syndrome and polyarteritis nodosa, and has symptoms including diarrhea, nephrocalcinosis and splenomegaly. 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 Cytokine Signaling in Immune system. The drugs Antibodies and Antibodies, Monoclonal 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 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 : 71 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 192)
id Related Disease Score Top Affiliating Genes
1 hyper-igd syndrome 30.7 MVK NLRP3
2 polyarteritis nodosa 30.4 CRP TNF
3 atherosclerosis 28.9 IL1B MEFV SAA1 TNF
4 familial mediterranean fever, ad 28.5 CASP1 CRP IL1B MEFV MVK NLRP3
5 rheumatoid arthritis 27.9 CRP IL1B SAA1 TNF TNFRSF1A
6 periodic fever, familial 12.3
7 familial mediterranean fever type 1 12.0
8 familial mediterranean fever type 2 12.0
9 amyloidosis, hereditary, transthyretin-related 10.9
10 amyloidosis aa 10.9
11 pyogenic arthritis, pyoderma gangrenosum and acne 10.9
12 adiaspiromycosis 10.7 MEFV NLRP3
13 amyloidosis 10.6
14 acute neonatal citrullinemia type i 10.6 MEFV TNFRSF1A
15 acute megakaryoblastic leukemia without down syndrome 10.6 MEFV TNFRSF1A
16 craniometaphyseal dysplasia 10.5 MEFV TNF
17 leigh syndrome with leukodystrophy 10.5 MEFV TNFRSF1A
18 tetanus 10.5 MEFV TNF
19 mycobacterium kansasii 10.4 NLRP3 TNF
20 crystal arthropathies 10.4 CRP NLRP3
21 periodic fever, aphthous stomatitis, pharyngitis and adenitis 10.4
22 solitary cyst of breast 10.4 CRP NLRP3
23 ptosis coloboma mental retardation 10.4 MEFV NLRP3 PSTPIP1
24 partial circumpapillary choroid dystrophy 10.4 CRP MEFV
25 senior-loken syndrome 8 10.3 NLRP3 TNFRSF1A
26 arthritis 10.3
27 diverticulitis of colon 10.3 CRP SAA1
28 scleroperikeratitis 10.3 PSTPIP1 TNF
29 multiple epiphyseal dysplasia 10.3 TNF TNFRSF1A
30 retinitis pigmentosa 75 10.3 TNF TNFRSF1A
31 pyrimidine metabolic disorder 10.3 CRP MEFV
32 spermatic cord torsion 10.2 CASP1 CRP
33 epb42-related hereditary spherocytosis 10.2 TNF TNFRSF1A
34 colchicine resistance 10.2
35 afibrinogenemia, congenital 10.2 MEFV SAA1 TNFRSF1A
36 epstein-barr virus hepatitis 10.2 CRP TNF
37 milk allergy 10.2 IL1B NLRP3
38 euthyroid sick syndrome 10.2 CRP TNF
39 myopathy 10.2 MEFV PSTPIP1 TNF
40 glomerulonephritis 10.1
41 systemic lupus erythematosus 10.1
42 lupus erythematosus 10.1
43 discitis 10.1 TNF TNFRSF1A
44 amyloidosis nodular localized cutaneous 10.1 CRP MEFV SAA1
45 crohn's disease 10.1
46 spondyloarthropathy 10.1
47 erysipelas 10.1
48 primary biliary cirrhosis 10.1 TNF TNFRSF1A
49 cicatricial lagophthalmos 10.1 CRP TNF
50 petrous apex meningioma 10.1 CRP 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 via clinical synopsis from OMIM:

54

Abdomen- Liver:
hepatomegaly

Genitourinary- Kidneys:
renal failure
nephrotic syndrome
renal amyloidosis

Respiratory- Lung:
pleuritis

Metabolic Features:
fever, episodic

Neurologic- Central Nervous System:
meningitis

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

Abdomen- Spleen:
splenomegaly

Cardiovascular- Heart:
pericarditis

Abdomen- Gastroin testinal:
abdominal pain
peritonitis

Skeletal:
arthralgia
monarticular or oligoarticular arthritis

Genitourinary- External Genitalia Male:
tunica vaginalis inflammation (orchitis)

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


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 diarrhea 56 32 frequent (33%) Frequent (79-30%) HP:0002014
2 nephrocalcinosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000121
3 splenomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001744
4 seizures 56 32 frequent (33%) Frequent (79-30%) HP:0001250
5 proteinuria 56 32 frequent (33%) Frequent (79-30%) HP:0000093
6 pancreatitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001733
7 constipation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002019
8 pericarditis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001701
9 pleuritis 56 32 frequent (33%) Frequent (79-30%) HP:0002102
10 arthritis 56 32 frequent (33%) Frequent (79-30%) HP:0001369
11 myalgia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003326
12 arrhythmia 56 32 occasional (7.5%) Occasional (29-5%) HP:0011675
13 fever 56 32 hallmark (90%) Very frequent (99-80%) HP:0001945
14 malabsorption 56 32 occasional (7.5%) Occasional (29-5%) HP:0002024
15 osteoarthritis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002758
16 abdominal pain 56 32 hallmark (90%) Very frequent (99-80%) HP:0002027
17 lymphadenopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0002716
18 nephrotic syndrome 56 32 occasional (7.5%) Occasional (29-5%) HP:0000100
19 intestinal obstruction 56 32 occasional (7.5%) Occasional (29-5%) HP:0005214
20 acute hepatic failure 56 32 occasional (7.5%) Occasional (29-5%) HP:0006554
21 ascites 56 32 occasional (7.5%) Occasional (29-5%) HP:0001541
22 vasculitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002633
23 myocardial infarction 56 32 occasional (7.5%) Occasional (29-5%) HP:0001658
24 skin rash 56 32 occasional (7.5%) Occasional (29-5%) HP:0000988
25 chest pain 56 32 frequent (33%) Frequent (79-30%) HP:0100749
26 arthralgia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002829
27 erythema 56 32 frequent (33%) Frequent (79-30%) HP:0010783
28 nephropathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000112
29 meningitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001287
30 oral leukoplakia 56 32 frequent (33%) Frequent (79-30%) HP:0002745
31 erysipelas 56 32 frequent (33%) Frequent (79-30%) HP:0001055
32 peritonitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002586
33 elevated erythrocyte sedimentation rate 56 32 occasional (7.5%) Occasional (29-5%) HP:0003565
34 nausea and vomiting 56 32 hallmark (90%) Very frequent (99-80%) HP:0002017
35 edema of the lower limbs 56 32 occasional (7.5%) Occasional (29-5%) HP:0010741
36 gastrointestinal infarctions 56 32 occasional (7.5%) Occasional (29-5%) HP:0005244
37 orchitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0100796
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 TNFRSF1A CASP1 IL1B NLRP3 TNF
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.62 CASP1 IL1B NLRP3 TNF TNFRSF1A

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 SAA1 TNF TNFRSF1A CASP1 CRP IL1B
3 immune system MP:0005387 9.56 CASP1 CRP IL1B MEFV NLRP3 PSTPIP1
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):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 3
2 Antibodies, Monoclonal Phase 3
3 Immunoglobulins Phase 3
4 Antirheumatic Agents Phase 2
5 Interleukin 1 Receptor Antagonist Protein Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Canakinumab to Treat Neonatal-Onset Multisystem Inflammatory Disease Terminated NCT00770601 Phase 3 Canakinumab
2 Interleukin-1 Trap to Treat Autoinflammatory Diseases Completed NCT00094900 Phase 2 IL-1 Trap
3 Rilonacept for Deficiency of the Interleukin-1 Receptor Antagonist (DIRA) Completed NCT01801449 Phase 2 Rilonacept
4 A Pilot Study of XOMA 052 in Familial Cold Autoinflammatory Syndrome / Muckle-Wells Syndrome and Behcet's Disease Withdrawn NCT01211977 Phase 1, Phase 2 XOMA 052
5 Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID / CAPS, DIRA, CANDLE, SAVI, CRMO, Still's Disease, Behcet's Disease, and Other Undifferentiated Autoinflammatory Diseases) Recruiting NCT00059748

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:

71 (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
13.17 CASP1 IL1B SAA1 TNF TNFRSF1A
3
Show member pathways
12.57 CASP1 IL1B MEFV NLRP3 PSTPIP1 TNF
4
Show member pathways
12.53 CASP1 IL1B SAA1 TNF
5 12.51 CASP1 IL1B TNF TNFRSF1A
6
Show member pathways
12.49 CASP1 IL1B NLRP3 TNF TNFRSF1A
7
Show member pathways
12.44 CASP1 IL1B TNF TNFRSF1A
8
Show member pathways
12.08 IL1B TNF TNFRSF1A
9 12.06 IL1B TNF TNFRSF1A
10 11.92 IL1B TNF TNFRSF1A
11 11.85 IL1B TNF TNFRSF1A
12
Show member pathways
11.82 CASP1 TNF TNFRSF1A
13
Show member pathways
11.78 CASP1 TNF TNFRSF1A
14 11.77 IL1B SAA1 TNF
15 11.73 IL1B TNF TNFRSF1A
16
Show member pathways
11.68 CASP1 MEFV NLRP3 PSTPIP1
17 11.66 IL1B TNF TNFRSF1A
18
Show member pathways
11.45 IL1B TNF TNFRSF1A
19 11.37 CASP1 IL1B TNF
20 11.3 IL1B TNF TNFRSF1A
21 11.2 IL1B TNF
22 11.2 IL1B TNF
23 11.16 TNF TNFRSF1A
24 11.15 IL1B TNF
25 11.14 CASP1 IL1B NLRP3 TNF
26 11.13 IL1B TNF
27 11.11 IL1B TNF
28 11.02 IL1B NLRP3
29 10.98 TNF TNFRSF1A
30 10.89 CRP TNF
31 10.79 IL1B TNF
32 10.67 CASP1 IL1B TNF
33 10.54 CASP1 IL1B MEFV NLRP3
34 10.34 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 36)
id Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.94 MEFV NLRP3 PSTPIP1 SAA1
2 response to lipopolysaccharide GO:0032496 9.83 CASP1 IL1B TNFRSF1A
3 defense response GO:0006952 9.8 NLRP3 TNF TNFRSF1A
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.79 IL1B NLRP3 TNF
5 activation of MAPK activity GO:0000187 9.75 IL1B SAA1 TNF
6 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.69 CASP1 NLRP3 TNF
7 protein kinase B signaling GO:0043491 9.67 IL1B TNF
8 lipopolysaccharide-mediated signaling pathway GO:0031663 9.67 IL1B TNF
9 cellular response to mechanical stimulus GO:0071260 9.67 CASP1 IL1B TNFRSF1A
10 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.67 CASP1 IL1B TNF TNFRSF1A
11 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.66 TNF TNFRSF1A
12 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.66 TNF TNFRSF1A
13 positive regulation of phagocytosis GO:0050766 9.65 IL1B TNF
14 positive regulation of interleukin-8 production GO:0032757 9.65 IL1B TNF
15 positive regulation of interleukin-1 beta secretion GO:0050718 9.64 CASP1 NLRP3
16 positive regulation of NF-kappaB import into nucleus GO:0042346 9.63 IL1B TNF
17 response to ATP GO:0033198 9.63 CASP1 IL1B
18 negative regulation of lipid catabolic process GO:0050995 9.61 IL1B TNF
19 regulation of protein secretion GO:0050708 9.61 SAA1 TNF
20 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.6 IL1B TNF
21 cellular response to lipopolysaccharide GO:0071222 9.59 NLRP3 TNF
22 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.58 IL1B TNF
23 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.57 IL1B TNF
24 positive regulation of chemokine biosynthetic process GO:0045080 9.56 IL1B TNF
25 negative regulation of lipid storage GO:0010888 9.55 CRP TNF
26 positive regulation of ceramide biosynthetic process GO:2000304 9.54 TNF TNFRSF1A
27 death-inducing signaling complex assembly GO:0071550 9.52 TNF TNFRSF1A
28 positive regulation of cytokine secretion GO:0050715 9.5 CASP1 SAA1 TNF
29 positive regulation of fever generation GO:0031622 9.48 IL1B TNF
30 sequestering of triglyceride GO:0030730 9.46 IL1B TNF
31 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.43 NLRP3 TNF
32 regulation of establishment of endothelial barrier GO:1903140 9.43 IL1B TNF TNFRSF1A
33 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.4 IL1B TNF
34 negative regulation of inflammatory response GO:0050728 9.35 MEFV MVK NLRP3 SAA1 TNFRSF1A
35 interleukin-1 beta production GO:0032611 9.33 CASP1 IL1B NLRP3
36 inflammatory response GO:0006954 9.17 CRP IL1B MEFV NLRP3 PSTPIP1 TNF

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

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.8 MVK NLRP3 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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