Periodic Fever, Familial, Autosomal Dominant

Description

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 (see this term).

Clinical Features

Top most frequent phenotypes and symptoms related to Periodic Fever, Familial, Autosomal Dominant

  • Anemia
  • Neoplasm
  • Nevus
  • Pain
  • Splenomegaly
  • Edema
  • Fever
  • Diarrhea
  • Behavioral abnormality
  • Vomiting
And another 47 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Periodic Fever, Familial, Autosomal Dominant have a estimated prevalence of 0.1 per 100k worldwide.


Mendelian

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Periodic Fever, Familial, Autosomal Dominant Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TNFRSF1A Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TNFRSF1A
Specificity
100 %
Genes
100 %
TNFRSF1A Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TNFRSF1A
Specificity
100 %
Genes
100 %
TNFRSF1A.

By Institute for Human Genetics University Clinic Freiburg in Germany.

TNFRSF1A
Specificity
100 %
Genes
100 %
Periodic Fever Syndromes Panel, Sequencing, 7 Genes and Deletion/Duplication, 6 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

NLRP3, MVK, MEFV, ELANE, LPIN2, TNFRSF1A, PSTPIP1
Specificity
15 %
Genes
100 %
MEFV, TNFRSF1A, MVK, NLRP3. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

NLRP3, MVK, MEFV, TNFRSF1A
Specificity
25 %
Genes
100 %
TNFRSF1A. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TNFRSF1A
Specificity
100 %
Genes
100 %
Familial periodic fever (sequence analysis of TNFRSF1A gene).

By CGC Genetics in Portugal.

TNFRSF1A
Specificity
100 %
Genes
100 %
Hereditary amyloidosis (NGS panel of 19 genes).

By CGC Genetics in Portugal.

TTR, APP, TGFBI, RET, GSN, NLRP3, MEFV, PRNP, APOA1, FGA, TNFRSF1A, F10, TACSTD2, APOA2, B2M, CST3, LYZ, IL31RA, OSMR
Specificity
6 %
Genes
100 %
Familial periodic fever/TRAPS syndrome (deletion/duplication analysis on TNFRSF1A gene).

By CGC Genetics in Portugal.

TNFRSF1A
Specificity
100 %
Genes
100 %
Hereditary amyloidosis (NGS panel of 19 genes).

By CGC Genetics in Portugal.

TTR, APP, TGFBI, RET, GSN, NLRP3, MEFV, PRNP, APOA1, FGA, TNFRSF1A, F10, TACSTD2, APOA2, B2M, CST3, LYZ, IL31RA, OSMR
Specificity
6 %
Genes
100 %
Familial periodic fever/TRAPS syndrome (deletion/duplication analysis on TNFRSF1A gene).

By CGC Genetics in Portugal.

TNFRSF1A
Specificity
100 %
Genes
100 %
Familial mediterranean fever.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

MEFV, TNFRSF1A, SAA1
Specificity
34 %
Genes
100 %
TNF-Receptor Associated Periodic Syndrome (TRAPS) via TNFRSF1A Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TNFRSF1A
Specificity
100 %
Genes
100 %
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, ALDH18A1, SLC39A13, COL5A1, COL5A2, PLOD1, PLP1, ADAMTS2, FLNA, ADAMTSL2, SMAD3, TGFBR1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AP3B1, ADA, IL2RG, PNP, PRF1, SLC7A7, WAS, BTK, NLRP3, MVK, MAGT1, BLOC1S6, LYST, MEFV, SH2D1A, RAB27A, UNC13D, STX11, XIAP, STXBP2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Periodic Fever Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NLRP3, MVK, PSMB8, MEFV, NOD2, ELANE, LPIN2, TNFRSF1A, PSTPIP1, NLRP12, IL36RN, CARD14, TNFAIP3
Specificity
8 %
Genes
100 %
Periodic Fever Syndromes.

By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada.

MVK, MEFV, TNFRSF1A
Specificity
34 %
Genes
100 %
Autosomal Dominant Familial Periodic Fever.

By Bioscientia GmbH Center for Human Genetics in Germany.

TNFRSF1A
Specificity
100 %
Genes
100 %
TRAPS (TNF receptor-associated periodic syndrome).

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

TNFRSF1A
Specificity
100 %
Genes
100 %
TRAPS.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

TNFRSF1A
Specificity
100 %
Genes
100 %
Autoinflammatory panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

NLRP3, MVK, PSMB8, MEFV, SH3BP2, NOD2, LPIN2, TNFRSF1A, IL10RA, IL10RB, PSTPIP1, NLRP12, IL36RN, NCSTN, PSENEN, IL1RN, NLRP7, IL10, PLCG2
Specificity
6 %
Genes
100 %
Periodic fever, familial autosomal dominant.

By Centogene AG - the Rare Disease Company in Germany.

TNFRSF1A
Specificity
100 %
Genes
100 %
Autosomal Dominant Familial Periodic Fever.

By Medical Genetics Laboratory Diagenom GmbH in Germany.

TNFRSF1A
Specificity
100 %
Genes
100 %
Periodic fever, familial, autosomal dominant.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

TNFRSF1A
Specificity
100 %
Genes
100 %
Tumor necrosis factor receptor-associated periodic syndrome.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

TNFRSF1A
Specificity
100 %
Genes
100 %
Single gene testing TNFRSF1A.

By CeGaT GmbH in Germany.

TNFRSF1A
Specificity
100 %
Genes
100 %
Autoinflammatory diseases Panel.

By CeGaT GmbH in Germany.

HFE, NLRP3, MVK, PSMB8, MEFV, SH3BP2, NOD2, SLC29A3, LPIN2, TNFRSF1A, IL10RA, IL10RB, PSTPIP1, NLRP12, IL36RN, CARD14, IL1RN, IL10, RBCK1, PLCG2
Specificity
5 %
Genes
100 %
Autosomal Dominant Familial Periodic Fever, TNFRSF1A.

By GGA - Galil Genetic Analysis in Israel.

TNFRSF1A
Specificity
100 %
Genes
100 %
TNFRSF1A.

By ProntoLab - MLPA Lab Pronto Diagnostics Ltd. in Israel.

TNFRSF1A
Specificity
100 %
Genes
100 %
Periodic Fever, familial, autosomal-dominant.

By Praxis fuer Humangenetik Wien in Austria.

TNFRSF1A
Specificity
100 %
Genes
100 %
TNFRSF1A.

By Division Human Genetics Medical University Innsbruck in Austria.

TNFRSF1A
Specificity
100 %
Genes
100 %
TRAPS.

By Department of Clinical Immunology Odense University Hospital in Denmark.

TNFRSF1A
Specificity
100 %
Genes
100 %
Periodic Fever, familial, autosomal-dominant.

By MedGene in Slovakia.

TNFRSF1A
Specificity
100 %
Genes
100 %
TNF-Receptor-Associated Periodic Syndrome.

By Inflammatory Disease Section/Clinical Genetics Service National Human Genome Research Institute in United States.

TNFRSF1A
Specificity
100 %
Genes
100 %
Invitae Periodic Fever Syndromes Panel.

By Invitae in United States.

NLRP3, MVK, PSMB8, MEFV, ELANE, LPIN2, TNFRSF1A, NLRC4, ADA2, PSTPIP1, NLRP12, TRNT1
Specificity
9 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Invitae Autoinflammatory Syndromes Panel.

By Invitae in United States.

NLRP3, MVK, PSMB8, MEFV, SH3BP2, NOD2, SLC29A3, ELANE, LPIN2, TNFRSF1A, IL10RA, NLRC4, IL10RB, ADA2, PSTPIP1, NLRP12, TRNT1, IL36RN, CARD14, IL1RN , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Periodic fever: TNFRSF1A gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TNFRSF1A
Specificity
100 %
Genes
100 %
Periodic fever: TNFRSF1A gene screening.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TNFRSF1A
Specificity
100 %
Genes
100 %
Periodic fever syndromes.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

NLRP3, MVK, MEFV, ELANE, LPIN2, TNFRSF1A, PSTPIP1
Specificity
15 %
Genes
100 %
Hereditary Periodic Fever Syndromes: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

NLRP3, MVK, MEFV, ELANE, LPIN2, TNFRSF1A, PSTPIP1
Specificity
15 %
Genes
100 %
Hereditary Periodic Fever Syndromes: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

NLRP3, MVK, MEFV, ELANE, LPIN2, TNFRSF1A, PSTPIP1
Specificity
15 %
Genes
100 %
TNFRSF1A Gene, Full Gene Analysis.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic in United States.

TNFRSF1A
Specificity
100 %
Genes
100 %
Periodic Fevers Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

NLRP3, MVK, MEFV, ELANE, LPIN2, TNFRSF1A, PSTPIP1
Specificity
15 %
Genes
100 %
TNFRSF1A.

By Fulgent Genetics Fulgent Genetics in United States.

TNFRSF1A
Specificity
100 %
Genes
100 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Autoinflammatory Syndrome Panel.

By Blueprint Genetics in Finland.

SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, NLRP3, MVK, PSMB8, IFIH1, ADAR, MEFV, NOD2, SLC29A3, ELANE, LPIN2, TNFRSF1A, NLRC4, ISG15, PSTPIP1, NLRP12 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Familial hibernian fever.

By Bioarray in Spain.

TNFRSF1A
Specificity
100 %
Genes
100 %
Periodic Fever NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

NLRP3, MVK, MEFV, NOD2, ELANE, LPIN2, TNFRSF1A, PSTPIP1, NLRP12
Specificity
12 %
Genes
100 %
TNFRSF1A Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

TNFRSF1A
Specificity
100 %
Genes
100 %
TNF RECEPTOR ASSOCIATED PERIODIC SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

TNFRSF1A
Specificity
100 %
Genes
100 %
Periodic Fever (TRAPS Syndrome), Sequencing TNFRSF1A Gene.

By Reference Laboratory Genetics in Spain.

TNFRSF1A
Specificity
100 %
Genes
100 %
Periodic Fever (TRAPS Syndrome), Frequent Mutations TNFRSF1A Gene.

By Reference Laboratory Genetics in Spain.

TNFRSF1A
Specificity
100 %
Genes
100 %
Hereditary Systemic Autoinflammatory Diseases , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

NLRP3, MVK, MEFV, NOD2, TNFRSF1A, PSTPIP1
Specificity
17 %
Genes
100 %
Periodic Fever and Related Syndromes, Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

NLRP3, MVK, MEFV, ELANE, LPIN2, TNFRSF1A, PSTPIP1
Specificity
15 %
Genes
100 %
TNF receptor-associated periodic fever syndrome (TRAPS).

By Labor Dr. Wisplinghoff in Germany.

TNFRSF1A
Specificity
100 %
Genes
100 %

Alternate names

Periodic Fever, Familial, Autosomal Dominant Is also known as fpf, hibernian fever, familial;fhf, familial hibernian fever, tumor necrosis factor receptor-associated periodic syndrome;traps, tnf receptor-associated periodic syndrome;familial hibernian fever; tnf receptor 1-associated periodic syndrome; traps syndrome.


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