Periodic Fever, Familial
| Disorder | |
|---|---|
| OMIM #: | #142680 (Click to access OMIM database) |
| Disorder: | Periodic Fever, Familial |
| Also known as: | FPF, HIBERNIAN FEVER, FAMILIAL FHF, FAMILIAL HIBERNIAN FEVER, TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PERIODIC SYNDROME TRAPS, TNF RECEPTOR-ASSOCIATED PERIODIC SYNDROME |
| Clinical | |
| Phenotype: | Events occur, on average, every 6 weeks and usually last over a week: abdominal pain, recurrent fever, arthralgia, migratory dermatitis, myalgias, perioorbital edema |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | TNFRSF1A |
| Base Change: | G>A, at nucleotide 362 |
| Amino Acid Change: | arg 121 --> gln |
| Last updated: | 2022-11-11 |
| References |
|---|
| Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36. PubMed ID: 19630565 |
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