MCID: FML162
MIFTS: 19

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 50 12
Familial Mediterranean Fever, Autosomal Dominant 68 25
 
Adfmf 68

Characteristics:

HPO:

62
familial mediterranean fever, ad:
Inheritance: autosomal dominant inheritance
Onset and clinical course: juvenile onset


Classifications:



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OMIM50 134610
MedGen35 C1851347
MeSH37 D010505

Summaries for Familial Mediterranean Fever, Ad

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UniProtKB/Swiss-Prot:68 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 (Mediterranean Fever).

Description from OMIM:50 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

HPO human phenotypes related to Familial Mediterranean Fever, Ad:

(show all 11)
id Description Frequency HPO Source Accession
1 renal insufficiency HP:0000083
2 proteinuria HP:0000093
3 arthritis HP:0001369
4 renal amyloidosis HP:0001917
5 episodic fever HP:0001954
6 abdominal pain HP:0002027
7 pleuritis HP:0002102
8 peritonitis HP:0002586
9 arthralgia HP:0002829
10 polyarticular arthritis HP:0005764
11 chest pain 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 Dominant25

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:

68
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)single nucleotide variantPathogenicrs28940578GRCh37Chr 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)single nucleotide variantPathogenicrs104895105GRCh37Chr 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet