loading...| Preferred Name |
Familial Mediterranean Fever |
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| Synonyms |
PathwayType: signaling PMID: 24247370 CellType: macrophage Organ_System: hematological system Description: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease worldwide and has an autosomal recessive inheritance. Pathway is built manually using published studies. Link: https://mammal-profservices.pathwaystudio.com/app/sd?urn=urn:agi-pathway:uuid-87736807-c3f0-4428-abcb-300fa1d545f0 CellType: mast cell NodeType: Pathway CellType: dendritic cell Notes: Headnote: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease and has an autosomal recessive mode of inheritance. FMF is caused by mutations in the MEFV gene, which encodes pyrin. The disease is more common among people originating from the eastern Mediterranean area including the Jewish, Turkish, Armenian, and Arab populations from this region. In these ethnic groups, the prevalence of FMF is between 1 in 500 and 1 in 1000 and MEFV mutations are very common, with the carrier rate reaching 1 in 5. The disease has spread over the world with the migrations of these populations over the past century. Signaling description: Pyrin can form part of the NLRP3 inflammasome complex and mutations in MEFV are associated with excess inflammation via increased production of IL1B. Pyrin has been suggested to associate with PYCARD and increase IL1B processing. The function of pyrin has not been completely elucidated, but it appears to be a suppressor of CASP1 activation. Outcome effects: CASP1 is the enzyme which stimulates the production of IL1B, a cytokine central to the process of inflammation. Therefore, an ineffective pyrin fails to inhibit inflammation which results in inflammatory episodes at the cell membrane at differing sites. Highlighted proteins: Protein with increased expression or activity is highlighted in red. Mutated genes: Mutated gene is shown in white-out style. PMID: 17431422 Pathway_Author: V. Sobolev ORCID:0000-0003-4779-156X Source: Diseases |
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| ID |
urn:agi-pathway:uuid-87736807-c3f0-4428-abcb-300fa1d545f0 |
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| database_cross_reference |
PS:PathwayType PS:Description PS:Pathway_Author PS:Link PS:CellType PS:Organ_System PS:PMID PS:NodeType PS:Notes PS:Source |
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| has_exact_synonym |
PathwayType: signaling PMID: 24247370 CellType: macrophage Organ_System: hematological system Description: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease worldwide and has an autosomal recessive inheritance. Pathway is built manually using published studies. CellType: mast cell NodeType: Pathway CellType: dendritic cell Notes: Headnote: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease and has an autosomal recessive mode of inheritance. FMF is caused by mutations in the MEFV gene, which encodes pyrin. The disease is more common among people originating from the eastern Mediterranean area including the Jewish, Turkish, Armenian, and Arab populations from this region. In these ethnic groups, the prevalence of FMF is between 1 in 500 and 1 in 1000 and MEFV mutations are very common, with the carrier rate reaching 1 in 5. The disease has spread over the world with the migrations of these populations over the past century. Signaling description: Pyrin can form part of the NLRP3 inflammasome complex and mutations in MEFV are associated with excess inflammation via increased production of IL1B. Pyrin has been suggested to associate with PYCARD and increase IL1B processing. The function of pyrin has not been completely elucidated, but it appears to be a suppressor of CASP1 activation. Outcome effects: CASP1 is the enzyme which stimulates the production of IL1B, a cytokine central to the process of inflammation. Therefore, an ineffective pyrin fails to inhibit inflammation which results in inflammatory episodes at the cell membrane at differing sites. Highlighted proteins: Protein with increased expression or activity is highlighted in red. Mutated genes: Mutated gene is shown in white-out style. PMID: 17431422 Pathway_Author: V. Sobolev ORCID:0000-0003-4779-156X Source: Diseases |
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| id |
urn:agi-pathway:uuid-87736807-c3f0-4428-abcb-300fa1d545f0 |
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| label |
Familial Mediterranean Fever |
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| notation |
uuid-87736807-c3f0-4428-abcb-300fa1d545f0 |
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| prefLabel |
Familial Mediterranean Fever |
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| treeView |
urn:agi-folder:f urn:agi-folder:hematological_system urn:agi-folder:familial_mediterranean_fever |
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| subClassOf |
urn:agi-folder:f urn:agi-folder:hematological_system urn:agi-folder:familial_mediterranean_fever |