MCID: FML162
MIFTS: 20

Familial Mediterranean Fever, Ad 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 51 12
Familial Mediterranean Fever, Autosomal Dominant 69 26
 
Adfmf 69

Characteristics:

HPO:

63
familial mediterranean fever, ad:
Inheritance: autosomal dominant inheritance
Onset and clinical course: juvenile onset

Classifications:



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OMIM51 134610
MedGen36 C1851347
MeSH38 D010505

Summaries for Familial Mediterranean Fever, Ad

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UniProtKB/Swiss-Prot:69 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, is also known as familial mediterranean fever, autosomal dominant, 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:51 134610

Related Diseases for Familial Mediterranean Fever, Ad

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Symptoms 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:

 63 (show all 11)
id Description HPO Frequency HPO Source Accession
1 renal insufficiency63 HP:0000083
2 proteinuria63 HP:0000093
3 arthritis63 HP:0001369
4 renal amyloidosis63 HP:0001917
5 episodic fever63 HP:0001954
6 abdominal pain63 HP:0002027
7 pleuritis63 HP:0002102
8 peritonitis63 HP:0002586
9 arthralgia63 HP:0002829
10 polyarticular arthritis63 HP:0005764
11 chest pain63 HP:0100749

Drugs & Therapeutics for Familial Mediterranean Fever, Ad

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Care Ecosystem: Navigating Patients and Families Through Stages of CareRecruitingNCT02213458

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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 Dominant26

Anatomical Context for Familial Mediterranean Fever, Ad

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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:

69
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.2084A> G (p.Lys695Arg)SNV, CompoundHeterozygoteLikely pathogenic, Pathogenicrs104895094GRCh37Chr 16, 3293403: 3293403
2MEFVNM_000243.2(MEFV): c.2082G> A (p.Met694Ile)SNV, HaplotypePathogenicrs28940578GRCh37Chr 16, 3293405: 3293405
3MEFVNM_000243.2(MEFV): c.2081_2083delTGA (p.Met694del)deletionPathogenicrs104895091GRCh38Chr 16, 3243404: 3243406
4MEFVNM_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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet