FMF
MCID: FML162
MIFTS: 37

Familial Mediterranean Fever, Ad (FMF) malady

Genetic diseases, Nephrological diseases, Bone diseases, Blood diseases, Rare diseases, Immune diseases categories
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Summaries for Familial Mediterranean Fever, Ad

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MalaCards based summary: Familial Mediterranean Fever, Ad, also known as benign paroxysmal peritonitis, is related to familial mediterranean fever and amyloidosis, and has symptoms including nausea/vomiting/regurgitation/merycism/hyperemesis, acute abdominal pain/colic and constipation. An important gene associated with Familial Mediterranean Fever, Ad is MEFV (Mediterranean fever). The drug colchicine has been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and testes.

Descriptions from OMIM:46 134610,249100

Aliases & Classifications for Familial Mediterranean Fever, Ad

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Sources:
48Orphanet, 62UMLS, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Familial Mediterranean Fever, Ad, Aliases & Descriptions:

Name: Familial Mediterranean Fever, Ad 46
Benign Paroxysmal Peritonitis 48 62
Familial Mediterranean Fever 48 62
Periodic Disease 48 62
 
Fmf 48 62
Polyserositis, Familial Paroxysmal 62
Familial Paroxysmal Polyserositis 48
Benign Recurrent Polyserositis 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
benign paroxysmal peritonitis:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Normal


External Ids:

MESH via Orphanet35 D010505
ICD10 via Orphanet26 E85.0
UMLS via Orphanet63 C0031069, C0585274

Related Diseases for Familial Mediterranean Fever, Ad

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Diseases in the Familial Mediterranean Fever family:

Familial Mediterranean Fever Type 1 Familial Mediterranean Fever Type 2
Familial Mediterranean Fever, Ar familial mediterranean fever, ad

Diseases related to Familial Mediterranean Fever, Ad via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 145)
idRelated DiseaseScoreTop Affiliating Genes
1familial mediterranean fever11.6
2amyloidosis11.1
3arthritis10.8
4polyarteritis nodosa10.7
5glomerulonephritis10.6
6multiple sclerosis10.6
7spondyloarthropathy10.6
8crohn's disease10.6
9rheumatoid arthritis10.6
10systemic lupus erythematosus10.6
11erysipelas10.6
12lupus erythematosus10.6
13thyroiditis10.6
14vasculitis10.6
15proteinuria10.5
16colchicine resistance10.5
17ankylosing spondylitis10.5
18celiac disease10.5
19enthesopathy10.5
20spondylitis10.5
21familial mediterranean fever, ar10.5
22atherosclerosis10.4
23hepatitis10.4
24colitis10.4
25goiter10.4
26pericarditis10.4
27peritonitis10.4
28purpura10.4
29endotheliitis10.4
30kartagener syndrome10.3
31liver disease10.3
32ulcerative colitis10.3
33relapsing polychondritis10.3
34takayasu's arteritis10.3
35adult-onset still's disease10.3
36septic arthritis10.3
37fatty liver disease10.3
38proliferative glomerulonephritis10.3
39rapidly progressive glomerulonephritis10.3
40mesangial proliferative glomerulonephritis10.3
41appendicitis10.3
42esophagitis10.3
43myopathy10.3
44myositis10.3
45nephrotic syndrome10.3
46periodontitis10.3
47sarcoidosis10.3
48hypoaldosteronism10.3
49familial mediterranean fever type 110.3
50familial mediterranean fever type 210.3

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



Diseases related to familial mediterranean fever, ad

Symptoms for Familial Mediterranean Fever, Ad

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Symptoms by clinical synopsis from OMIM:

134610

Clinical features from OMIM:

134610,249100

Symptoms:

48 (show all 39)
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • acute abdominal pain/colic
  • constipation
  • myalgia/muscular pain
  • articular/joint pain/arthralgia
  • autosomal recessive inheritance
  • fever/chilling
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • erysipela
  • enanthema/aphtosa/aphta/leukoplakia
  • acute diarrhea
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • thoracic/chest pain
  • proteinuria
  • seizures/epilepsy/absences/spasms/status epilepticus
  • arthritis/synovitis/synovial proliferation
  • cutaneous rash
  • ascitis
  • malabsorption/chronic diarrhea/steatorrhea
  • intestinal obstruction/ileus
  • acute hepatic failure
  • pancreatitis
  • splenomegaly
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • cardiac rhythm disorder/arrhythmia
  • angor pectoris/myocardial infarction
  • edema of the legs/lower limbs
  • vascularitis/vasculitides/arteritis
  • acute ischemic syndrome
  • mesenteric/intestinal infarction
  • lymphadenopathy/polyadenopathies
  • renal disease/nephropathy
  • renal/kidney calcifications/nephrocalcinosis
  • nephrotic syndrome
  • testes inflammation/orchitis
  • meningitis/meningeal syndrome
  • motor deficit/trouble
  • osteoarthritis
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp

HPO human phenotypes related to Familial Mediterranean Fever, Ad:

(show all 45)
id Description Frequency HPO Source Accession
1 nausea and vomiting hallmark (90%) HP:0002017
2 constipation hallmark (90%) HP:0002019
3 abdominal pain hallmark (90%) HP:0002027
4 arthralgia hallmark (90%) HP:0002829
5 myalgia hallmark (90%) HP:0003326
6 abnormality of temperature regulation hallmark (90%) HP:0004370
7 proteinuria typical (50%) HP:0000093
8 abnormality of the oral cavity typical (50%) HP:0000163
9 erysipelas typical (50%) HP:0001055
10 seizures typical (50%) HP:0001250
11 diarrhea typical (50%) HP:0002014
12 abnormality of the pleura typical (50%) HP:0002103
13 chest pain typical (50%) HP:0100749
14 nephrotic syndrome occasional (7.5%) HP:0000100
15 nephropathy occasional (7.5%) HP:0000112
16 nephrocalcinosis occasional (7.5%) HP:0000121
17 skin rash occasional (7.5%) HP:0000988
18 meningitis occasional (7.5%) HP:0001287
19 ascites occasional (7.5%) HP:0001541
20 coronary artery disease occasional (7.5%) HP:0001677
21 abnormality of the pericardium occasional (7.5%) HP:0001697
22 pancreatitis occasional (7.5%) HP:0001733
23 splenomegaly occasional (7.5%) HP:0001744
24 malabsorption occasional (7.5%) HP:0002024
25 vasculitis occasional (7.5%) HP:0002633
26 lymphadenopathy occasional (7.5%) HP:0002716
27 osteoarthritis occasional (7.5%) HP:0002758
28 intestinal obstruction occasional (7.5%) HP:0005214
29 gastrointestinal infarctions occasional (7.5%) HP:0005244
30 acute hepatic failure occasional (7.5%) HP:0006554
31 edema of the lower limbs occasional (7.5%) HP:0010741
32 arrhythmia occasional (7.5%) HP:0011675
33 orchitis occasional (7.5%) HP:0100796
34 autosomal dominant inheritance HP:0000006
35 renal insufficiency HP:0000083
36 proteinuria HP:0000093
37 arthritis HP:0001369
38 renal amyloidosis HP:0001917
39 episodic fever HP:0001954
40 abdominal pain HP:0002027
41 pleuritis HP:0002102
42 peritonitis HP:0002586
43 arthralgia HP:0002829
44 juvenile onset HP:0003621
45 polyarticular arthritis HP:0005764

Drugs & Therapeutics for Familial Mediterranean Fever, Ad

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Drug clinical trials:

Search ClinicalTrials for Familial Mediterranean Fever, Ad

Search NIH Clinical Center for Familial Mediterranean Fever, Ad

Inferred drug relations via UMLS62/NDF-RT40:

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Anatomical Context for Familial Mediterranean Fever, Ad

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

32
Bone, Kidney, Testes

Animal Models for Familial Mediterranean Fever, Ad or affiliated genes

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Publications for Familial Mediterranean Fever, Ad

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Variations for Familial Mediterranean Fever, Ad

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

64
id Symbol AA change Variation ID SNP ID
1MEFVp.Glu148GlnVAR_009051rs3743930
2MEFVp.Met694IleVAR_009061rs28940578
3MEFVp.Met694ValVAR_009062
4MEFVp.His478TyrVAR_028333
5MEFVp.Met680IleVAR_028343rs28940580

Clinvar genetic disease variations for Familial Mediterranean Fever, Ad:

6 (show all 21)
id Gene Name Type Significance SNP ID Assembly Location
1MEFVNM_000243.2(MEFV): c.2080A> G (p.Met694Val)single nucleotide variantPathogenicrs61752717GRCh37Chr 16, 3293407: 3293407
2MEFVNM_000243.2(MEFV): c.2082G> A (p.Met694Ile)single nucleotide variantPathogenicrs28940578GRCh37Chr 16, 3293405: 3293405
3MEFVNM_000243.2(MEFV): c.2177T> C (p.Val726Ala)single nucleotide variantPathogenicrs28940579GRCh37Chr 16, 3293310: 3293310
4MEFVNM_000243.2(MEFV): c.442G> C (p.Glu148Gln)single nucleotide variantPathogenicrs3743930GRCh37Chr 16, 3304626: 3304626
5MEFVNM_000243.2(MEFV): c.501G> C (p.Glu167Asp)single nucleotide variantPathogenicrs104895079GRCh37Chr 16, 3304567: 3304567
6MEFVNM_000243.2(MEFV): c.800C> T (p.Thr267Ile)single nucleotide variantPathogenicrs104895081GRCh37Chr 16, 3304268: 3304268
7MEFVNM_000243.2(MEFV): c.1437C> G (p.Phe479Leu)single nucleotide variantPathogenicrs104895083GRCh37Chr 16, 3297166: 3297166
8MEFVNM_000243.2(MEFV): c.2074_2076delATA (p.Ile692del)deletionPathogenicrs121907890GRCh37Chr 16, 3293411: 3293413
9MEFVNM_000243.2(MEFV): c.2084A> G (p.Lys695Arg)single nucleotide variantPathogenicrs104895094GRCh37Chr 16, 3293403: 3293403
10MEFVNM_000243.2(MEFV): c.2230G> T (p.Ala744Ser)single nucleotide variantPathogenicrs61732874GRCh37Chr 16, 3293257: 3293257
11MEFVNM_000243.2(MEFV): c.2282G> A (p.Arg761His)single nucleotide variantPathogenicrs104895097GRCh37Chr 16, 3293205: 3293205
12MEFVNM_000243.2(MEFV): c.2040G> A (p.Met680Ile)single nucleotide variantPathogenicrs28940580GRCh37Chr 16, 3293447: 3293447
13MEFVNM_000243.2(MEFV): c.1958G> A (p.Arg653His)single nucleotide variantPathogenicrs104895085GRCh37Chr 16, 3293529: 3293529
14MEFVNM_000243.2(MEFV): c.443A> T (p.Glu148Val)single nucleotide variantLikely pathogenicrs104895076GRCh37Chr 16, 3304625: 3304625
15MEFVNM_000243.2(MEFV): c.2082G> A (p.Met694Ile)single nucleotide variantPathogenicrs28940578GRCh37Chr 16, 3293405: 3293405
16MEFVMEFV, 3-BP DEL, 2080ATGdeletionPathogenic
17MEFVNM_000243.2(MEFV): c.1432C> T (p.His478Tyr)single nucleotide variantPathogenicrs104895105GRCh37Chr 16, 3297171: 3297171
18MEFVNM_000243.2(MEFV): c.1016C> T (p.Ser339Phe)single nucleotide variantLikely pathogenicrs104895157GRCh37Chr 16, 3299675: 3299675
19MEFVNM_000243.2(MEFV): c.1318C> G (p.Gln440Glu)single nucleotide variantLikely pathogenicrs11466026GRCh37Chr 16, 3298947: 3298947
20MEFVNM_000243.2(MEFV): c.2040G> C (p.Met680Ile)single nucleotide variantPathogenicrs28940580GRCh37Chr 16, 3293447: 3293447
21MEFVNM_000243.2(MEFV): c.941G> A (p.Arg314His)single nucleotide variantLikely pathogenicrs104895204GRCh37Chr 16, 3299750: 3299750

Expression for genes affiliated with Familial Mediterranean Fever, Ad

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Expression patterns in normal tissues for genes affiliated with Familial Mediterranean Fever, Ad

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Pathways for genes affiliated with Familial Mediterranean Fever, Ad

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Compounds for genes affiliated with Familial Mediterranean Fever, Ad

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GO Terms for genes affiliated with Familial Mediterranean Fever, Ad

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Products for genes affiliated with Familial Mediterranean Fever, Ad

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  • Antibodies
  • Proteins
  • Lysates

Sources for Familial Mediterranean Fever, Ad

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet