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MEFV and familial Mediterranean fever are reported together in 13 articles.
Gene
MEFV
- HGNC
- HGNC:6998
16articles
16mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
familial Mediterranean fever 13Crohn disease 1congenital myopathy 1nephrotic syndrome 1renal failure 1
Reported variants (articles · ClinVar status)
Phenotype
Familial Mediterranean fever
34articles
34mentions
4co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
13 records shown · first 60MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database.
PMID 32401353 | DOI 10.1111/ahg.12385 · Annals of human genetics · 2020 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MEFV | “MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial Mediterranean fever | “BACKGROUND: Familial Mediterranean fever is a hereditary inflammatory disorder caused by variants in MEFV. c.2230G>T p.(Ala744Ser) rs61732874 is considered to be an established pathogenic variant in MEFV, but in this study we provide a complete evaluation that suggests this variant is likely benign.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.2230G>T | “MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database.” | 0.95 | hgvs_regex_v1 |
| variant | p.Ala744Ser | “MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database.” | 0.95 | hgvs_regex_v1 |
Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia.
PMID 31804137 | PMCID PMC6894460 | DOI 10.5144/0256-4947.2019.382 · Annals of Saudi medicine · 2019 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MEFV | “Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial Mediterranean fever | “Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “SAMPLE SIZE: 10 033 patients admitted, 1223 with confirmed mutations. Sixty-six percent had a family history of the disease and 13.7% of the patients had parental consanguinity.” | 0.80 | saudi_context_rules_v1 |
| variant | M694V | “The most common mutation in this population was M694V (39%) of 5753 alleles.” | 0.82 | literature_variant_regex_v2 |
Epidermolysis bullosa complicated with nephrotic syndrome due to AA amyloidosis: A case report and brief review of literature.
PMID 31929295 | DOI 10.4103/1319-2442.275492 · Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia · 2019 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MEFV | “Although he did not have any symptoms of autoimmune diseases and mutation in the MEFV gene, he was given colchicine because of positive family history for familial Mediterranean fever and amyloidosis.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial Mediterranean fever | “Although he did not have any symptoms of autoimmune diseases and mutation in the MEFV gene, he was given colchicine because of positive family history for familial Mediterranean fever and amyloidosis.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | COL7A1 | “He had homozygous mutation in COL7A1 gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | nephrotic syndrome | “Epidermolysis bullosa complicated with nephrotic syndrome due to AA amyloidosis: A case report and brief review of literature.” | 0.98 | phenotype_alias_lexicon_v2 |
Familial Mediterranean fever, review of the literature.
PMID 28624931 | DOI 10.1007/s10067-017-3715-5 · Clinical rheumatology · 2017 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MEFV | “The MEFV gene was described in 1997 as the gene responsible for FMF and is inherited in autosomal recessive manner.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial Mediterranean fever | “Familial Mediterranean fever, review of the literature.” | 0.98 | phenotype_alias_lexicon_v2 |
Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation.
PMID 27030597 | DOI 10.1126/scitranslmed.aaf1471 · Science translational medicine · 2016 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MEFV | “The disease was caused by a mutation in MEFV, the gene encoding pyrin (S242R).” | 0.98 | hgnc_dict_v1 |
| phenotype | familial Mediterranean fever | “Mutations in the B30.2/SPRY domain cause pathogen-independent activation of pyrin and are responsible for the autoinflammatory disease familial Mediterranean fever (FMF).” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | S242R | “The disease was caused by a mutation in MEFV, the gene encoding pyrin (S242R).” | 0.82 | literature_variant_regex_v2 |
A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients.
PMID 22705602 | PMCID PMC6081005 | DOI 10.5144/0256-4947.2012.343 · Annals of Saudi medicine · 2012 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MEFV | “BACKGROUND AND OBJECTIVES: Familial Mediterranean fever (FMF) is an autosomal recessive disorder caused by mutations in MEFV gene, which encodes pyrin.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial Mediterranean fever | “A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “The aim of this study was to determine the frequency and spectrum of 12 MEFV mutations of these patients and any genotype-phenotype correlation in this large Turkish group. High parental consanguinity rates affect FMF development.” | 0.80 | saudi_context_rules_v1 |
| variant | M694V | “The most common mutation detected was heterozygote M694V (46/221).” | 0.82 | literature_variant_regex_v2 |
Relationship of Tel Hashomer criteria and Mediterranean fever gene mutations in a cohort of Turkish familial Mediterranean fever patients.
PMID 17143356 · Saudi medical journal · 2006 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MEFV | “METHODS: We looked for mutations in the Mediterranean fever (MEFV) gene in 84 consecutive patients who admitted to the Department of Medical Genetics of Afyon Kocatepe University, with a variable (from high to low) clinical suspicion of FMF.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial Mediterranean fever | “Relationship of Tel Hashomer criteria and Mediterranean fever gene mutations in a cohort of Turkish familial Mediterranean fever patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | M694V | “By using polymerase chain reaction and Hybridization-ELISA methods, 5 mutations (M694V, M694I, V726A, M680I and E148Q) have been studied between December 2002 and January 2005.” | 0.82 | literature_variant_regex_v2 |
| variant | M694I | “By using polymerase chain reaction and Hybridization-ELISA methods, 5 mutations (M694V, M694I, V726A, M680I and E148Q) have been studied between December 2002 and January 2005.” | 0.82 | literature_variant_regex_v2 |
Genetic screening of familial Mediterranean fever mutations in the Palestinian population.
PMID 15951859 · Saudi medical journal · 2005 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MEFV | “METHODS: Blood samples of 511 suspected FMF patients, received from the Molecular Genetics Laboratory, Makassed Islamic Charitable Hospital, Mount Olives, Jerusalem during the period from June 1999 to August 2004, were investigated by genotyping 24 different MEFV mutations.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial Mediterranean fever | “Genetic screening of familial Mediterranean fever mutations in the Palestinian population.” | 0.98 | phenotype_alias_lexicon_v2 |
Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population.
PMID 14578967 · Saudi medical journal · 2003 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MEFV | “The gene implicated in this disorder, MEFV, has been cloned and mutations in its coding regions have been identified.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial Mediterranean fever | “Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “METHODS: We identified 29 probands from 29 unrelated sibships segregating the disorder and representing the affected individual cohort. We also, screened anonymous DNA samples from 4 Arabic countries, namely, Egypt (231), Syria (225), Iraq (176) and the Kingdom of Saudi Arabia (107) thus enlarging our healthy adult cohort.” | 0.95 | saudi_context_rules_v1 |
| variant | M694V | “RESULTS: Out of the 58 alleles of the 29 probands, only 31 mutations were identified and M694V and V726A are the most common.” | 0.82 | literature_variant_regex_v2 |
Familial mediterranean Fever and renal disease.
PMID 17657110 · Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia · 2003 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MEFV | “The gene responsible for FMF, MEFV, has been cloned and mutations were identified within its coding sequence.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial Mediterranean fever | “Familial mediterranean Fever and renal disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | renal failure | “The major renal involvement in FMF is the occurrence of amyloidosis that primarily affects the kidneys causing proteinuria and ending in death from renal failure.” | 0.98 | phenotype_alias_lexicon_v2 |
Familial Mediterranean Fever.
PMID 11299400 · Saudi medical journal · 2001 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MEFV | “The gene responsible for Familial Mediterranean Fever, MEFV, has been mapped and cloned and mutations were identified within its coding sequence.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial Mediterranean fever | “Familial Mediterranean Fever.” | 0.98 | phenotype_alias_lexicon_v2 |
Familial Mediterranean fever in two Bedouin families: mutation analysis and disease severity.
PMID 10842289 | DOI 10.1002/(sici)1096-8628(20000605)92:4<247::aid-ajmg4>3.0.co;2-7 · American journal of medical genetics · 2000 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MEFV | “The MEFV mutations found in the Bedouin patients M694I, V726A, and E148Q are consistent with their Arab origin.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial Mediterranean fever | “Familial Mediterranean fever in two Bedouin families: mutation analysis and disease severity.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | M694I | “The MEFV mutations found in the Bedouin patients M694I, V726A, and E148Q are consistent with their Arab origin.” | 0.82 | literature_variant_regex_v2 |
| variant | V726A | “The MEFV mutations found in the Bedouin patients M694I, V726A, and E148Q are consistent with their Arab origin.” | 0.82 | literature_variant_regex_v2 |
A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groups.
PMID 9325049 | DOI 10.1006/geno.1997.4860 · Genomics · 1997 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MEFV | “Familial Mediterranean fever (FMF) is a recessive disorder of inflammation caused by mutations in a gene (designated MEFV) on chromosome 16p13.3.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial Mediterranean fever | “A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groups.” | 0.98 | phenotype_alias_lexicon_v2 |