ADFMF
MCID: FML344
MIFTS: 24

Familial Mediterranean Fever, Autosomal Dominant (ADFMF)

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

Aliases & Classifications for Familial Mediterranean Fever, Autosomal Dominant

MalaCards integrated aliases for Familial Mediterranean Fever, Autosomal Dominant:

Name: Familial Mediterranean Fever, Autosomal Dominant 56 73 29 6
Familial Mediterranean Fever, Ad 56 13
Fever, Mediterranean, Familial, Autosomal Dominant 39
Fmf, Autosomal Dominant 56
Adfmf 73

Characteristics:

OMIM:

56
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:

31
familial mediterranean fever, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:



Summaries for Familial Mediterranean Fever, Autosomal Dominant

UniProtKB/Swiss-Prot : 73 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 Innate Immuity Regulator, Pyrin). Related phenotypes are arthritis and renal insufficiency

More information 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

Human phenotypes related to Familial Mediterranean Fever, Autosomal Dominant:

31 (showing 11, show less)
# Description HPO Frequency HPO Source Accession
1 arthritis 31 HP:0001369
2 renal insufficiency 31 HP:0000083
3 proteinuria 31 HP:0000093
4 arthralgia 31 HP:0002829
5 abdominal pain 31 HP:0002027
6 chest pain 31 HP:0100749
7 peritonitis 31 HP:0002586
8 pleuritis 31 HP:0002102
9 renal amyloidosis 31 HP:0001917
10 polyarticular arthritis 31 HP:0005764
11 recurrent fever 31 HP:0001954

Symptoms via clinical synopsis from OMIM:

56
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

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

Articles related to Familial Mediterranean Fever, Autosomal Dominant:

(showing 9, show less)
# Title Authors PMID Year
1
A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder? 6 56
14679589 2004
2
The genetic basis of autosomal dominant familial Mediterranean fever. 6 56
10787449 2000
3
Familial Mediterranean Fever 6
20301405 2000
4
Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis. 56
10234504 1999
5
Autosomal dominant 'Mediterranean fever' in a Finnish family. 56
1402641 1992
6
[Familial Mediterranean fever in a German family]. 56
2707135 1989
7
Autosomal dominant familial Mediterranean fever-like syndrome with amyloidosis. 56
3682954 1987
8
Familial Mediterranean fever in an Italian family. 56
5412026 1970
9
Familial perireticular amyloidosis in a Swedish family. 56
5678100 1968

Variations for Familial Mediterranean Fever, Autosomal Dominant

ClinVar genetic disease variations for Familial Mediterranean Fever, Autosomal Dominant:

6 (showing 16, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MEFV NM_001198536.1(MEFV):c.*282_*284TGA[1]short repeat Pathogenic 2556 rs104895091 16:3293404-3293406 16:3243404-3243406
2 MEFV NM_000243.2(MEFV):c.1432C>T (p.His478Tyr)SNV Pathogenic 2557 rs104895105 16:3297171-3297171 16:3247171-3247171
3 MEFV NM_000243.2(MEFV):c.2040G>C (p.Met680Ile)SNV Pathogenic 36507 rs28940580 16:3293447-3293447 16:3243447-3243447
4 MEFV NM_000243.2(MEFV):c.2082G>A (p.Met694Ile)SNV Pathogenic 2539 rs28940578 16:3293405-3293405 16:3243405-3243405
5 MEFV NM_000243.2(MEFV):c.2177T>C (p.Val726Ala)SNV Pathogenic/Likely pathogenic 2540 rs28940579 16:3293310-3293310 16:3243310-3243310
6 MEFV NM_000243.2(MEFV):c.2080A>G (p.Met694Val)SNV Pathogenic/Likely pathogenic 2538 rs61752717 16:3293407-3293407 16:3243407-3243407
7 MEFV NM_000243.2(MEFV):c.2282G>A (p.Arg761His)SNV Pathogenic/Likely pathogenic 2549 rs104895097 16:3293205-3293205 16:3243205-3243205
8 MEFV NM_000243.2(MEFV):c.1894G>A (p.Gly632Ser)SNV Likely pathogenic 97467 rs104895128 16:3293593-3293593 16:3243593-3243593
9 MEFV NM_000243.2(MEFV):c.442G>C (p.Glu148Gln)SNV Conflicting interpretations of pathogenicity 2542 rs3743930 16:3304626-3304626 16:3254626-3254626
10 MEFV NM_000243.2(MEFV):c.2084A>G (p.Lys695Arg)SNV Conflicting interpretations of pathogenicity 2547 rs104895094 16:3293403-3293403 16:3243403-3243403
11 MEFV NM_000243.2(MEFV):c.2230G>T (p.Ala744Ser)SNV Conflicting interpretations of pathogenicity 2548 rs61732874 16:3293257-3293257 16:3243257-3243257
12 MEFV NM_000243.2(MEFV):c.97G>T (p.Val33Leu)SNV Uncertain significance 36516 rs11466016 16:3306491-3306491 16:3256491-3256491
13 MEFV NM_000243.2(MEFV):c.1131C>T (p.Arg377=)SNV Uncertain significance 625980 rs149941578 16:3299560-3299560 16:3249560-3249560
14 MEFV NM_000243.2(MEFV):c.848C>G (p.Pro283Arg)SNV Uncertain significance 97548 rs104895119 16:3304220-3304220 16:3254220-3254220
15 MEFV NM_000243.2(MEFV):c.322A>C (p.Ser108Arg)SNV Uncertain significance 97515 rs104895103 16:3304746-3304746 16:3254746-3254746
16 MEFV NM_000243.2(MEFV):c.2024G>A (p.Ser675Asn)SNV Uncertain significance 97478 rs104895087 16:3293463-3293463 16:3243463-3243463

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

73 (showing 5, show less)
# 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

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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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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