ADFMF
MCID: FML162
MIFTS: 23

Familial Mediterranean Fever, Ad (ADFMF) malady

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

Aliases & Classifications for Familial Mediterranean Fever, Ad

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Aliases & Descriptions for Familial Mediterranean Fever, Ad:

Name: Familial Mediterranean Fever, Ad 52 12
Familial Mediterranean Fever, Autosomal Dominant 70 27
 
Adfmf 70

Characteristics:

HPO:

64
familial mediterranean fever, ad:
Inheritance: autosomal dominant inheritance
Onset and clinical course: juvenile onset

Classifications:



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OMIM52 134610
MedGen37 C1851347
MeSH39 D010505

Summaries for Familial Mediterranean Fever, Ad

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UniProtKB/Swiss-Prot:70 Familial Mediterranean fever, autosomal dominant: A hereditary periodic fever syndrome characterized by periodic fever, serosal inflammation and pain in the abdomen, chest or joints as seen also in the autosomal recessive form of the disease. It is associated with reactive renal amyloidosis and characterized by colchicine unresponsiveness.

MalaCards based summary: Familial Mediterranean Fever, Ad, also known as familial mediterranean fever, autosomal dominant, is related to spondyloarthropathy, and has symptoms including renal insufficiency, proteinuria and arthritis. An important gene associated with Familial Mediterranean Fever, Ad is MEFV (MEFV, Pyrin Innate Immunity Regulator).

Description from OMIM:52 134610

Related Diseases for Familial Mediterranean Fever, Ad

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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, Ad via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1spondyloarthropathy9.9

Symptoms & Phenotypes for Familial Mediterranean Fever, Ad

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Symptoms by clinical synopsis from OMIM:

134610

Clinical features from OMIM:

134610

Human phenotypes related to Familial Mediterranean Fever, Ad:

 64 (show all 11)
id Description HPO Frequency HPO Source Accession
1 renal insufficiency64 HP:0000083
2 proteinuria64 HP:0000093
3 arthritis64 HP:0001369
4 renal amyloidosis64 HP:0001917
5 episodic fever64 HP:0001954
6 abdominal pain64 HP:0002027
7 pleuritis64 HP:0002102
8 peritonitis64 HP:0002586
9 arthralgia64 HP:0002829
10 polyarticular arthritis64 HP:0005764
11 chest pain64 HP:0100749

Drugs & Therapeutics for Familial Mediterranean Fever, Ad

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

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
RivaroxabanapprovedPhase 3259366789-02-8
Synonyms:
 
Xarelto
bay 59-7939
2
protease inhibitorsPhase 35471
Synonyms:
 
protease inhibitors
3Serine Proteinase InhibitorsPhase 3878
4AnticoagulantsPhase 32623
5HIV Protease InhibitorsPhase 35470
6Antithrombin IIIPhase 3690
7AntithrombinsPhase 3697
8Factor Xa InhibitorsPhase 3411
9serineNutraceuticalPhase 3954

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Study of Rivaroxaban (JNJ-39039039) on the Venous Thromboembolic Risk in Post-Hospital Discharge PatientsRecruitingNCT02111564Phase 3
2Care Ecosystem: Navigating Patients and Families Through Stages of CareActive, not recruitingNCT02213458

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Genetic Tests for Familial Mediterranean Fever, Ad

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Genetic tests related to Familial Mediterranean Fever, Ad:

id Genetic test Affiliating Genes
1 Familial Mediterranean Fever, Autosomal Dominant27

Anatomical Context for Familial Mediterranean Fever, Ad

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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:

70
id Symbol AA change Variation ID SNP ID
1MEFVp.Glu148GlnVAR_009051rs3743930
2MEFVp.Met694IleVAR_009061rs28940578
3MEFVp.Met694ValVAR_009062rs61752717
4MEFVp.His478TyrVAR_028333rs104895105
5MEFVp.Met680IleVAR_028343rs28940580

Clinvar genetic disease variations for Familial Mediterranean Fever, Ad:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MEFVNM_ 000243.2(MEFV): c.2082G> A (p.Met694Ile)SNV, HaplotypePathogenicrs28940578GRCh37Chr 16, 3293405: 3293405
2MEFVNM_ 000243.2(MEFV): c.2081_ 2083delTGA (p.Met694del)deletionPathogenicrs104895091GRCh38Chr 16, 3243404: 3243406
3MEFVNM_ 000243.2(MEFV): c.1432C> T (p.His478Tyr)SNVPathogenicrs104895105GRCh37Chr 16, 3297171: 3297171

Expression for genes affiliated with Familial Mediterranean Fever, Ad

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

Pathways 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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Sources for Familial Mediterranean Fever, Ad

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet