|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
TRAPS is caused by mutations in the gene encoding the TNF Receptor Super Family 1A (TNFRSF1A) on chromosome 12p13.
|
16447098 |
2006 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Based on the clinical features and the TNFRSF1A mutation, both siblings were given a diagnosis of TRAPS.
|
17075277 |
2006 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
TRAPS is the first condition for which naturally occurring mutations in a TNF receptor were found; the mutations affect the soluble TNFRSF1A gene in the 12p13 region.
|
15288852 |
2004 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
DNA sequence analysis revealed a heterozygous mutation in the TNFRSF1A (TNFa-receptor 1) gene (T50M) in both father and son causing tumor necrosis factor receptor-associated periodic syndrome (TRAPS).
|
15570662 |
2004 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Molecular defects of TNFRSF1A was investigated in members of a family presenting with typical phenotypes of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) and in patients with the autoimmune disorders, systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA).
|
15492850 |
2004 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The genotype findings indicate that a relatively small number of genes may be involved in the clinical manifestation of HIDS, with low-penetrance TNFRSF1A variants possibly influencing the HIDS phenotype or MVK mutations contributing to TRAPS.
|
15188372 |
2004 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
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.
|
13130484 |
2003 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
DNA sequencing of exons 1-6 of the TNFRSF1A gene (formerly TNFR1) was performed in the patient and his parents to determine the presence of the autosomal-dominant tumor necrosis factor receptor-associated periodic syndrome (TRAPS); informative markers spanning the TNFRSF1A locus were used to genotype all available members of the patient's family.
|
11817598 |
2002 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a dominantly inherited autoinflammatory syndrome that results from mutations in TNFRSF1A, the gene that encodes the 55-kd tumor necrosis factor receptor.
|
12209524 |
2002 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Among hereditary fevers characterized by recurrent attacks of fever and organ localized inflammation, familial Mediterranean fever (FMF), and tumour necrosis factor receptor superfamily 1A (TNFRSF1A) receptor associated periodic syndrome (TRAPS) are diseases with identified genes that can be associated with renal amyloidosis of the AA type.
|
12105243 |
2002 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
TRAPS is caused by dominant mutations in the 55 kDa TNF receptor gene (TNFRSF1A).
|
11722598 |
2001 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
A mutation search was performed in the MEFV (Mediterranean fever) and tumor necrosis factor receptor 1 (TNFR1 or TNFRSF1A) genes causing familial Mediterranean fever (FMF) and tumor necrosis factor receptor-associated periodic syndrome (TRAPS), respectively.
|
11318938 |
2001 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance.
|
11175303 |
2001 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
TRAPS is caused by dominantly inherited mutations in TNFRSF1A (formerly termed TNFR1), the gene encoding the 55 kDa TNF receptor.
|
10899034 |
2000 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an inflammatory disorder characterized by prolonged episodes of periodic fever and localized inflammation and dominantly inherited mutations in TNFRSF1A, the gene encoding the 55-kDa tumor necrosis factor receptor.
|
11115159 |
2000 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The coding region of TNFR1 was sequenced in 2 individuals with TRAPS (the propositus and her grandfather) and in 3 clinically unaffected relatives.
|
10902757 |
2000 |