ORPHA:32960
Tumor necrosis factor receptor 1 associated periodic syndrome
Synonyms: Familial Hibernian fever · TNF receptor 1-associated periodic syndrome · TRAPS syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tumor necrosis factor receptor 1 associated periodic syndrome | Familial Hibernian fever · TNF receptor 1-associated periodic syndrome · TRAPS syndrome |
| fr | Syndrome périodique associé au récepteur 1 du facteur de nécrose tumorale | Fièvre hibernienne familiale · Fièvre périodique autosomique dominante · Syndrome TRAPS · Syndrome périodique associé au récepteur 1 du TNF |
| de | Tumornekrosefaktor-Rezeptor 1-assoziiertes periodisches Fieber-Syndrom | Fieber, familiäres, Typ Hibernian · TNF-Rezeptor 1-assoziiertes periodisches Fieber-Syndrom · TRAPS-Syndrom |
| es | Síndrome periódico asociado al receptor 1 del factor de necrosis tumoral | Fiebre hiberniana familiar · Síndrome TRAPS · Síndrome periódico asociado al receptor 1 del TNF |
| it | Sindrome periodica associata al recettore 1 del fattore di necrosi tumorale | Febbre iberniana familiare · Sindrome TRAPS · Sindrome periodica associata al recettore 1 del TNF |
| nl | Tumornecrosefactorreceptor 1-geassocieerd periodiek syndroom | Familiale Ierse koorts · TNF-receptor 1-geassocieerd periodiek syndroom · TRAPS-syndroom |
| pt | Síndrome TRAPS | Febre hiberniana familiar · Febre periódica autossómica dominante · Síndrome periódico associado ao recetor 1 do TNF |
| pl | Zespół okresowy zwiazany z receptorem 1 czynnika martwicy nowotworów | Rodzinna gorączka Hibernian · Zespół okresowy związany z receporem 1 TNF · Zespół TRAPS |
| cs | Periodický syndrom asociovaný s receptorem pro tumor-nekrotizující faktor | Periodický syndrom asociovaný s receptorem pro TNF1 · TRAPS syndrom · Familiární hibernská horečka |
| uk | Періодичний синдром, асоційований з рецептором фактора некрозу пухлин 1 | Сімейна зимова лихоманка · Періодичний синдром, асоційований з рецептором TNF-1 · Синдром TRAPS |
| zh | 肿瘤坏死因子受体1相关周期性发热综合征 | 肿瘤坏死因子受体1相关周期性发热综合征 |
| tr | Tümör nekroze edici faktör reseptörü 1 -ilişkili periyodik sendrom | TRAPS sendromu · Ailesel Hibernian ateşi · TNF reseptörü 1 ile ilişkili periyodik sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 142680 | E | validated | |
| ICD-10 | E85.0 | NTBT | attributed | validated |
| ICD-11 | 4A60.2 | E | specific | validated |
| MONDO | 0007727 | E | validated | |
| MONDO | 7727 | E | validated | |
| UMLS | C1275126 | E | validated | |
| GARD | 8457 | E | validated | |
| MedDRA | 10067774 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:290839Autoinflammatory syndrome with immune deficiency
rare genetic diseases; rare immunological diseases - ORPHA:290842Autoinflammatory syndrome with skin involvement
rare skin diseases - ORPHA:622720Genetic autoinflammatory syndrome with skin involvement
rare genetic diseases - ORPHA:324924Hereditary periodic fever syndrome
rare genetic diseases; rare systemic and rheumatological diseases; rare systemic or rheumatologic diseases of childhood
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TNFRSF1A | Disease-causing germline mutation(s) in | Assessed | HGNC:11916 | ENSG00000067182 | 191190 | 12p13.31 | TNF receptor superfamily member 1A | 22059991[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2012[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
40 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002014 | Diarrhea | |
| HP:0011227 | Elevated circulating C-reactive protein concentration | |
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
| HP:0001055 | Erysipelas | |
| HP:0012733 | Macule | |
| HP:0003326 | Myalgia | |
| HP:0001701 | Pericarditis | |
| HP:0001954 | Recurrent fever | |
| HP:0000988 | Skin rash | |
| Frequent (79-30%) | ||
| HP:0001369 | Arthritis | |
| HP:0002019 | Constipation | |
| HP:0010783 | Erythema | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0005214 | Intestinal obstruction | |
| HP:0002716 | Lymphadenopathy | |
| HP:0100796 | Orchitis | |
| HP:0002102 | Pleuritis | |
| HP:0001744 | Splenomegaly | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0001637 | Abnormal myocardium morphology | |
| HP:0100781 | Abnormality of the sacroiliac joint | |
| HP:0002829 | Arthralgia | |
| HP:0000708 | Atypical behavior | |
| HP:0000978 | Bruising susceptibility | |
| HP:0100658 | Cellulitis | |
| HP:0100749 | Chest pain | |
| HP:0000509 | Conjunctivitis | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0100537 | Fasciitis | |
| HP:0001034 | Hypermelanotic macule | |
| HP:0002076 | Migraine | |
| HP:0100614 | Myositis | |
| HP:0003401 | Paresthesia | |
| HP:0100539 | Periorbital edema | |
| HP:0002586 | Peritonitis | |
| HP:0100776 | Recurrent pharyngitis | |
| HP:0000554 | Uveitis | |
| HP:0002633 | Vasculitis | |
| HP:0002321 | Vertigo | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/32960
- This record as JSON: /data/d/32960.json