Deutsch
IllnessTRAPS
Summary
Short information
Guideline-curated single gene sequence analysis according to the clinical suspicion TRAPS
ID
TS0310
Number of genes
1
Accredited laboratory test
Examined sequence length
1,4 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| TNFRSF1A | 1368 | NM_001065.4 | AD |
Informations about the disease
Clinical Comment
Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome with arthralgia, myalgia + tender skin lesions for 1-3 weeks, associated with skin, joint, ocular + serosal inflammation, complicated by secondary amyloidosis
Synonyms
- Alias: Hibernian fever, familial
- Alias: Periodic fever, familial, autosomal dominant (TNFRSF1A)
- Alias: TNF receptor-associated periodic syndrome (TNFRSF1A)
- Alias: Tumor necrosis factor receptor 1 associated periodic syndrome (TNFRSF1A)
- Alias: Tumornekrosefaktor-Rezeptor 1-assoziiertes periodisches Fieber-Syndrom (TNFRSF1A)
- Allelic: Multiple sclerosis, susceptibility to, 5 (TNFRSF1A)
Heredity, heredity patterns etc.
- AD
OMIM-Ps
ICD10 Code
E85.0
Bioinformatics and clinical interpretation
No text defined