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

Aliases & Descriptions for Familial Mediterranean Fever, Ad:

Name: Familial Mediterranean Fever, Ad 54 13
Familial Mediterranean Fever, Autosomal Dominant 66 29
Adfmf 66

Characteristics:

HPO:

32
familial mediterranean fever, ad:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

OMIM 54 134610
MedGen 40 C1851347
MeSH 42 D010505

Summaries for Familial Mediterranean Fever, Ad

UniProtKB/Swiss-Prot : 66 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 arthralgia, chest pain and abdominal pain. An important gene associated with Familial Mediterranean Fever, Ad is MEFV (MEFV, Pyrin Innate Immunity Regulator). The drugs Rivaroxaban and Anticoagulants have been mentioned in the context of this disorder.

Description from OMIM: 134610

Related Diseases for Familial Mediterranean Fever, Ad

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:

id Related Disease Score Top Affiliating Genes
1 spondyloarthropathy 9.9

Symptoms & Phenotypes for Familial Mediterranean Fever, Ad

Symptoms by clinical synopsis from OMIM:

134610

Clinical features from OMIM:

134610

Human phenotypes related to Familial Mediterranean Fever, Ad:

32 (show all 11)
id Description HPO Frequency HPO Source Accession
1 arthralgia 32 HP:0002829
2 chest pain 32 HP:0100749
3 abdominal pain 32 HP:0002027
4 arthritis 32 HP:0001369
5 renal insufficiency 32 HP:0000083
6 proteinuria 32 HP:0000093
7 peritonitis 32 HP:0002586
8 pleuritis 32 HP:0002102
9 episodic fever 32 HP:0001954
10 renal amyloidosis 32 HP:0001917
11 polyarticular arthritis 32 HP:0005764

Drugs & Therapeutics for Familial Mediterranean Fever, Ad

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

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rivaroxaban Approved Phase 3 366789-02-8
2 Anticoagulants Phase 3
3 Antithrombin III Phase 3
4 Antithrombins Phase 3
5 Factor Xa Inhibitors Phase 3
6 HIV Protease Inhibitors Phase 3
7
protease inhibitors Phase 3
8 Serine Proteinase Inhibitors Phase 3
9 serine Nutraceutical Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Study of Rivaroxaban (JNJ-39039039) on the Venous Thromboembolic Risk in Post-Hospital Discharge Patients Recruiting NCT02111564 Phase 3
2 Care Ecosystem: Navigating Patients and Families Through Stages of Care Active, not recruiting NCT02213458

Search NIH Clinical Center for Familial Mediterranean Fever, Ad

Genetic Tests for Familial Mediterranean Fever, Ad

Genetic tests related to Familial Mediterranean Fever, Ad:

id Genetic test Affiliating Genes
1 Familial Mediterranean Fever, Autosomal Dominant 29

Anatomical Context for Familial Mediterranean Fever, Ad

Publications for Familial Mediterranean Fever, Ad

Variations for Familial Mediterranean Fever, Ad

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

66
id Symbol AA change Variation ID SNP ID
1 MEFV p.Glu148Gln VAR_009051 rs3743930
2 MEFV p.Met694Ile VAR_009061 rs28940578
3 MEFV p.Met694Val VAR_009062 rs61752717
4 MEFV p.His478Tyr VAR_028333 rs104895105
5 MEFV p.Met680Ile VAR_028343 rs28940580

ClinVar genetic disease variations for Familial Mediterranean Fever, Ad:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MEFV NM_000243.2(MEFV): c.2082G> A (p.Met694Ile) single nucleotide variant Pathogenic rs28940578 GRCh37 Chromosome 16, 3293405: 3293405
2 MEFV NM_000243.2(MEFV): c.2081_2083delTGA (p.Met694del) deletion Pathogenic rs104895091 GRCh38 Chromosome 16, 3243404: 3243406
3 MEFV NM_000243.2(MEFV): c.1432C> T (p.His478Tyr) single nucleotide variant Pathogenic rs104895105 GRCh37 Chromosome 16, 3297171: 3297171

Expression for Familial Mediterranean Fever, Ad

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

Pathways for Familial Mediterranean Fever, Ad

GO Terms for Familial Mediterranean Fever, Ad

Sources for Familial Mediterranean Fever, Ad

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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