eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| tumor necrosis factor receptor-associated periodic syndrome | ||||
| Disease ID | 1334 |
|---|---|
| Disease | tumor necrosis factor receptor-associated periodic syndrome |
| Definition | The specific symptoms associated with TRAPS vary from one person to another. Nearly all affected individuals will develop recurrent episodes of high-grade fever, pain and inflammation. However, some individuals may only develop fever or only fever and abdominal pain. The duration of the episodes varies, but they usually last more than one week. Some individuals may experience constant inflammation.Characteristic febrile episodes may also be accompanied by chills, abdominal pain, headaches, joint pain (arthralgia), chest pain, and muscle pain (myalgia), stiffness and tightness. Abdominal pain may be associated with nausea, vomiting, and diarrhea or constipation. Chest pain is caused by inflammation of the thin covering (pleura) that lines the lungs (pleuritis). In some cases, muscle pain is severe.Muscle pain may be associated with skin lesions, specifically tender, warm, reddish (erythematous), raised plaques. Skin lesions develop during a febrile episode and they move from the proximal toward distal sites of the body. Skin lesions may last anywhere from a few days to three weeks. Skin lesions associated with TRAPS usually begin as tiny bumps (macules or papules) that spread and come together to form larger lesions (plaques).When muscle pain (myaligia) underlies skin lesions, it also moves (migrates) following skin lesions. As muscle pain progresses, different joints and muscle groups become involved. Although joint pain occurs, arthritis rarely develops.Individuals with TRAPS may also develop painful inflammation of the delicate membranes that line the inside of the eyelids (conjunctivitis). This may occur with or without swelling of the eyelids (periorbital edema). Additional symptoms that have been reported in males with TRAPS include testicular pain and a higher rate of inguinal hernia than is found in the general population. Inguinal hernia is a condition in which a portion of the intestines protrudes through a tear in the lower abdominal wall.A serious complication that occurs in approximately 10-15 percent of TRAPS cases is amyloidosis, a condition in which specialized proteins called amyloids abnormally accumulate in various tissues and organs of the body. For example, amyloid may accumulate in the kidneys, impairing kidney function and potentially causing life-threatening complications such as kidney failure. Although the kidneys are most often affected, numerous other organs can potentially become involved. - NORD Reference: NORD |
| Synonym | autosomal dominant familial periodic fever familial autosomal dominant periodic fever familial hibernian fever fhf fpf hibernian familial fever hibernian fever, familial periodic fever, familial, autosomal dominant tnf receptor-associated periodic fever syndrome tnf receptor-associated periodic fever syndrome (disorder) tnf receptor-associated periodic fever syndrome (traps) tnf receptor-associated periodic syndrome tnf receptor-associated periodic syndrome (traps) traps - tnf receptor-associated periodic fever syndrome tumor necrosis factor (tnf) receptor-associated periodic fever syndrome tumor necrosis factor (tnf) receptor-associated periodic fever syndrome (disorder) tumor necrosis factor receptor-associated periodic fever syndrome tumor necrosis factor receptor-associated periodic fever syndrome (disorder) tumour necrosis factor (tnf) receptor-associated periodic fever syndrome |
| Orphanet | |
| OMIM | |
| UMLS | C1275126 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:4) |
| Locus | (Waiting for update.) |
| Disease ID | 1334 |
|---|---|
| Disease | tumor necrosis factor receptor-associated periodic syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:11) HP:0011034 | Amyloid disease HP:0000988 | Exanthem HP:0003552 | Muscle stiffness HP:0002027 | Abdominal pain HP:0000969 | Dropsy HP:0001954 | Increased body temperature, episodic HP:0100539 | Periorbital swelling HP:0012280 | Hepatic amyloidosis HP:0003565 | Elevated sedimentation rate HP:0002829 | Arthralgias HP:0003326 | Muscle pain |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1334 |
|---|---|
| Disease | tumor necrosis factor receptor-associated periodic syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0221239 | rapidly progressive glomerulonephritis |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:16) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104895217 | NA | 7132 | TNFRSF1A | umls:C1275126 | CLINVAR | NA | 0.58156346 | NA | TNFRSF1A | 12 | 6334109 | A | G |
| rs104895218 | NA | 7132 | TNFRSF1A | umls:C1275126 | CLINVAR | NA | 0.58156346 | NA | TNFRSF1A | 12 | 6334099 | C | T |
| rs104895219 | NA | 7132 | TNFRSF1A | umls:C1275126 | CLINVAR | NA | 0.58156346 | NA | TNFRSF1A | 12 | 6333823 | G | T,A |
| rs104895220 | NA | 7132 | TNFRSF1A | umls:C1275126 | CLINVAR | NA | 0.58156346 | NA | TNFRSF1A | 12 | 6333817 | C | T,A |
| rs104895221 | NA | 7132 | TNFRSF1A | umls:C1275126 | CLINVAR | NA | 0.58156346 | NA | TNFRSF1A | 12 | 6333490 | A | G |
| rs104895222 | NA | 7132 | TNFRSF1A | umls:C1275126 | CLINVAR | NA | 0.58156346 | NA | TNFRSF1A | 12 | 6333489 | C | T |
| rs104895223 | NA | 7132 | TNFRSF1A | umls:C1275126 | CLINVAR | NA | 0.58156346 | NA | TNFRSF1A | 12 | 6334108 | C | T,G,A |
| rs104895225 | NA | 7132 | TNFRSF1A | umls:C1275126 | CLINVAR | NA | 0.58156346 | NA | TNFRSF1A | 12 | 6334100 | A | C |
| rs104895228 | NA | 7132 | TNFRSF1A | umls:C1275126 | CLINVAR | NA | 0.58156346 | NA | TNFRSF1A | 12 | 6333764 | A | T,G,C |
| rs104895238 | 15228183 | 7132 | TNFRSF1A | umls:C1275126 | BeFree | Sequencing revealed a missense mutation in exon 3 in the second extracellular domain of TNFRSF1A, resulting in a substitution of cysteine with arginine at residue 73 (C73R), confirming the diagnosis of TNF receptor-associated periodic syndrome (TRAPS). | 0.58156346 | 2004 | TNFRSF1A | 12 | 6333845 | A | G |
| rs104895238 | 20071450 | 7132 | TNFRSF1A | umls:C1275126 | BeFree | Because the pathomechanism of TRAPS may involve aberrant TNF-mediated intracellular signalling, we examined phosphorylation levels of nuclear factor kappaB (NF-kappaB) and p38 in response to TNF in 10 patients with three different TNFRSF1A mutations (C73R, C88Y and F112I). | 0.58156346 | 2010 | TNFRSF1A | 12 | 6333845 | A | G |
| rs3743930 | 15071491 | 4210 | MEFV | umls:C1275126 | BeFree | The E148Q variant of MEFV was present in two of the three patients with TNF receptor-associated periodic syndrome (TRAPS) complicated by amyloid in two separate multiplex TRAPS families containing 5 and 16 affected members respectively, and the single patient with Muckle-Wells syndrome who had amyloidosis was homozygous for this variant. | 0.002442977 | 2004 | MEFV | 16 | 3254626 | C | G |
| rs4149584 | 11443543 | 7132 | TNFRSF1A | umls:C1275126 | UNIPROT | The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. | 0.58156346 | 2001 | TNFRSF1A | 12 | 6333477 | C | T,G |
| rs4149584 | 13130484 | 7132 | TNFRSF1A | umls:C1275126 | UNIPROT | The presence of TNFRSF1A shedding defects and low sTNFRSF1A levels in 3 families without a TNFRSF1A mutation indicates that the genetic basis among patients with TRAPS-like features is heterogeneous. | 0.58156346 | 2003 | TNFRSF1A | 12 | 6333477 | C | T,G |
| rs4149584 | NA | 7132 | TNFRSF1A | umls:C1275126 | CLINVAR | NA | 0.58156346 | NA | TNFRSF1A | 12 | 6333477 | C | T,G |
| rs4149637 | 11443543 | 7132 | TNFRSF1A | umls:C1275126 | UNIPROT | The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. | 0.58156346 | 2001 | TNFRSF1A | 12 | 6333835 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003565 | Elevated erythrocyte sedimentation rate | MP:0008770 | decreased survivor rate | a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls |
| HP:0100539 | Periorbital edema | MP:0001785 | edema | an accumulation of an excessive amount of watery fluid in cells or intercellular tissues |
Mapped by homologous gene(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000969 | Edema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0011034 | Amyloidosis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001954 | Episodic fever | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0012280 | Hepatic amyloidosis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0100539 | Periorbital edema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003565 | Elevated erythrocyte sedimentation rate | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0003552 | Muscle stiffness | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000988 | Skin rash | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 1334 |
|---|---|
| Disease | tumor necrosis factor receptor-associated periodic syndrome |
| Case | (Waiting for update.) |