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familial mediterranean fever
Summary
- Synonym
-
- FMF
- benign paroxysmal peritonitis
- Definition
- An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.
- Super Class
- autoimmune disease autosomal genetic disease
External Links
- Disease Ontology
- DOID:2987
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 847 | CAT | catalase | |
| 1576 | CYP3A4 | cytochrome P450 family 3 subfamily A member 4 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2147 | F2 | coagulation factor II, thrombin | |
| 3569 | IL6 | interleukin 6 | |
| 4018 | LPA | lipoprotein(a) | |
| 4210 | MEFV | MEFV innate immunity regulator, pyrin | |
| 5054 | SERPINE1 | serpin family E member 1 | |
| 5243 | ABCB1 | ATP binding cassette subfamily B member 1 | |
| 5443 | POMC | proopiomelanocortin |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 11421 | Ace | angiotensin I converting enzyme | |
| 11450 | Adipoq | adiponectin, C1Q and collagen domain containing | |
| 14061 | F2 | coagulation factor II | |
| 18669 | Abcb1b | ATP-binding cassette, sub-family B member 1B | |
| 18671 | Abcb1a | ATP-binding cassette, sub-family B member 1A | |
| 18976 | Pomc | pro-opiomelanocortin-alpha | |
| 21824 | Thbd | thrombomodulin | |
| 21898 | Tlr4 | toll-like receptor 4 |
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 373802 | pomc.S | proopiomelanocortin S homeolog | Xenopus laevis (African clawed frog) | |
| 380532 | pomc.L | proopiomelanocortin L homeolog | Xenopus laevis (African clawed frog) | |
| 100144634 | ace | angiotensin I converting enzyme | Xenopus tropicalis (tropical clawed frog) |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 178215 | pgp-1 | Multidrug resistance protein pgp-1 | |
| 178672 | srp-3 | Serpin domain-containing protein | |
| 180780 | acn-1 | Inactive angiotensin-converting enzyme-related protein | |
| 180836 | W01C8.5 | DM13 domain-containing protein | |
| 181326 | pgp-3 | Multidrug resistance protein pgp-3 |
