MCID: FML344
MIFTS: 19

Familial Mediterranean Fever, Autosomal Dominant

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

Aliases & Classifications for Familial Mediterranean Fever, Autosomal Dominant

MalaCards integrated aliases for Familial Mediterranean Fever, Autosomal Dominant:

Name: Familial Mediterranean Fever, Autosomal Dominant 57 75 29 6
Familial Mediterranean Fever, Ad 57 13
Fever, Mediterranean, Familial, Autosomal Dominant 40
Fmf, Autosomal Dominant 57
Adfmf 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood or adolescence
colchicine treatment is not effective
favorable response to antibodies against tnf-alpha (tnfa, )
see also autosomal recessive familial mediterranean fever (fmf, )


HPO:

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


Classifications:



Summaries for Familial Mediterranean Fever, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 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, Autosomal Dominant, is also known as familial mediterranean fever, ad. An important gene associated with Familial Mediterranean Fever, Autosomal Dominant is MEFV (MEFV, Pyrin Innate Immunity Regulator). Related phenotypes are renal insufficiency and proteinuria

Description from OMIM: 134610

Related Diseases for Familial Mediterranean Fever, Autosomal Dominant

Diseases in the Familial Mediterranean Fever family:

Familial Mediterranean Fever, Autosomal Dominant

Symptoms & Phenotypes for Familial Mediterranean Fever, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
proteinuria
renal amyloidosis
renal failure

Abdomen Gastrointestinal:
abdominal pain
peritonitis

Metabolic Features:
fever, episodic
fever episodes last from 3 to 10 days

Laboratory Abnormalities:
increased serum c-reactive protein (crp, )

Skeletal:
arthralgia
polyarticular arthritis
migratory arthritis

Respiratory Lung:
pleuritis
thoracic pain

Skin Nails Hair Skin:
transient erysipelas-like erythematous rash


Clinical features from OMIM:

134610

Human phenotypes related to Familial Mediterranean Fever, Autosomal Dominant:

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

Drugs & Therapeutics for Familial Mediterranean Fever, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Familial Mediterranean Fever, Autosomal Dominant

Genetic Tests for Familial Mediterranean Fever, Autosomal Dominant

Genetic tests related to Familial Mediterranean Fever, Autosomal Dominant:

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

Anatomical Context for Familial Mediterranean Fever, Autosomal Dominant

Publications for Familial Mediterranean Fever, Autosomal Dominant

Variations for Familial Mediterranean Fever, Autosomal Dominant

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

75
# 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, Autosomal Dominant:

6
# 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.2082G> A (p.Met694Ile) single nucleotide variant Pathogenic rs28940578 GRCh38 Chromosome 16, 3243405: 3243405
3 MEFV NM_000243.2(MEFV): c.2177T> C (p.Val726Ala) single nucleotide variant Pathogenic/Likely pathogenic rs28940579 GRCh37 Chromosome 16, 3293310: 3293310
4 MEFV NM_000243.2(MEFV): c.2177T> C (p.Val726Ala) single nucleotide variant Pathogenic/Likely pathogenic rs28940579 GRCh38 Chromosome 16, 3243310: 3243310
5 MEFV NM_000243.2(MEFV): c.2081_2083delTGA (p.Met694del) deletion Pathogenic rs104895091 GRCh38 Chromosome 16, 3243404: 3243406
6 MEFV NM_000243.2(MEFV): c.2081_2083delTGA (p.Met694del) deletion Pathogenic rs104895091 GRCh37 Chromosome 16, 3293404: 3293406
7 MEFV NM_000243.2(MEFV): c.1432C> T (p.His478Tyr) single nucleotide variant Pathogenic rs104895105 GRCh37 Chromosome 16, 3297171: 3297171
8 MEFV NM_000243.2(MEFV): c.1432C> T (p.His478Tyr) single nucleotide variant Pathogenic rs104895105 GRCh38 Chromosome 16, 3247171: 3247171
9 MEFV NM_000243.2(MEFV): c.2040G> C (p.Met680Ile) single nucleotide variant Pathogenic rs28940580 GRCh37 Chromosome 16, 3293447: 3293447
10 MEFV NM_000243.2(MEFV): c.2040G> C (p.Met680Ile) single nucleotide variant Pathogenic rs28940580 GRCh38 Chromosome 16, 3243447: 3243447

Expression for Familial Mediterranean Fever, Autosomal Dominant

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

Pathways for Familial Mediterranean Fever, Autosomal Dominant

GO Terms for Familial Mediterranean Fever, Autosomal Dominant

Sources for Familial Mediterranean Fever, Autosomal Dominant

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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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