FMF
MCID: FML162
MIFTS: 37

Familial Mediterranean Fever, Ad (FMF) malady

Nephrological diseases, Bone diseases, Blood diseases, Genetic diseases categories

Summaries for Familial Mediterranean Fever, Ad

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46OMIM, 32MalaCards
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MalaCards: Familial Mediterranean Fever, Ad, also known as familial mediterranean fever, is related to amyloidosis and arthritis, and has symptoms including acute ischemic syndrome, vascularitis/vasculitides/arteritis and edema of the legs/lower limbs. 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 testes, kidney and bone.

Description from OMIM:46 134610,249100

Aliases & Classifications for Familial Mediterranean Fever, Ad

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48Orphanet, 60UMLS, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
familial mediterranean fever:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

familial mediterranean fever, ad 46
familial mediterranean fever 48 60
familial paroxysmal polyserositis 48
benign recurrent polyserositis 48
benign paroxysmal peritonitis 48
periodic disease 48
fmf 48


External Ids:

MESH via Orphanet35 D010505
ICD10 via Orphanet26 E85.0
SNOMED-CT via Orphanet57 12579009, 307421005
UMLS via Orphanet61 C0031069, C0585274

Related Diseases for Familial Mediterranean Fever, Ad

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17GeneCards, 18GeneDecks
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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 109)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis11.0
2arthritis10.8
3polyarteritis nodosa10.7
4glomerulonephritis10.6
5multiple sclerosis10.6
6spondyloarthropathy10.5
7systemic lupus erythematosus10.5
8lupus erythematosus10.5
9rheumatoid arthritis10.5
10crohn's disease10.5
11erysipelas10.5
12vasculitis10.5
13ankylosing spondylitis10.4
14spondylitis10.4
15hepatitis a10.4
16atherosclerosis10.4
17enthesopathy10.4
18peritonitis10.4
19purpura10.4
20familial mediterranean fever type 110.4
21familial mediterranean fever type 210.4
22familial mediterranean fever, ar10.4
23relapsing polychondritis10.3
24familial nephrotic syndrome10.3
25rheumatic fever10.3
26autoimmune thyroiditis10.3
27rapidly progressive glomerulonephritis10.3
28proliferative glomerulonephritis10.3
29mesangial proliferative glomerulonephritis10.3
30takayasu's arteritis10.3
31appendicitis10.3
32ulcerative colitis10.3
33septic arthritis10.3
34adult-onset still's disease10.3
35esophagitis10.3
36goiter10.3
37inflammatory bowel disease10.3
38myopathy10.3
39myositis10.3
40nephrotic syndrome10.3
41pericarditis10.3
42periodontitis10.3
43relapsing fever10.3
44sarcoidosis10.3
45crescentic glomerulonephritis10.1
46niemann-pick disease10.1
47membranous glomerulonephritis10.1
48acute pancreatitis10.1
49cryoglobulinemia10.1
50iga glomerulonephritis10.1

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



Diseases related to familial mediterranean fever, ad

Clinical Features for Familial Mediterranean Fever, Ad

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46OMIM, 48Orphanet
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Clinical features from OMIM:

134610,249100

Clinical synopsis from OMIM:

134610

Symptoms:

48 (show all 39)
  • acute ischemic syndrome
  • vascularitis/vasculitides/arteritis
  • edema of the legs/lower limbs
  • angor pectoris/myocardial infarction
  • cardiac rhythm disorder/arrhythmia
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • splenomegaly
  • 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
  • pancreatitis
  • acute hepatic failure
  • erysipela
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • fever/chilling
  • autosomal recessive inheritance
  • articular/joint pain/arthralgia
  • myalgia/muscular pain
  • constipation
  • acute abdominal pain/colic
  • enanthema/aphtosa/aphta/leukoplakia
  • acute diarrhea
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • intestinal obstruction/ileus
  • malabsorption/chronic diarrhea/steatorrhea
  • ascitis
  • cutaneous rash
  • arthritis/synovitis/synovial proliferation
  • seizures/epilepsy/absences/spasms/status epilepticus
  • proteinuria
  • thoracic/chest pain
  • nausea/vomiting/regurgitation/merycism/hyperemesis

Drugs & Therapeutics for Familial Mediterranean Fever, Ad

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Inferred drug relations via UMLS60/NDF-RT40:

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Anatomical Context for Familial Mediterranean Fever, Ad

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32MalaCards
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MalaCards organs/tissues related to Familial Mediterranean Fever, Ad:

32
Testes, Kidney, Bone

Animal Models for Familial Mediterranean Fever, Ad or affiliated genes

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Publications for Familial Mediterranean Fever, Ad

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Genetic Variations for Familial Mediterranean Fever, Ad

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Familial Mediterranean Fever, Ad:

62
id Symbol AA change Variation ID SNP ID
1MEFVp.Glu148GlnVAR_009051rs3743930
2MEFVp.Met694IleVAR_009061rs28940578
3MEFVp.Met694ValVAR_009062
4MEFVp.His478TyrVAR_028333
5MEFVp.Met680IleVAR_028343rs28940580

Expression for genes affiliated with Familial Mediterranean Fever, Ad

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1BioGPS, 15Gene Expression Omnibus DataSets
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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
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet