Familial Cold Autoinflammatory Syndrome 3; Fcas3

Description

Familial cold autoinflammatory syndrome-2 is an autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritus in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B cells, defective B cells, increased susceptibility to infection, and increased risk of autoimmune disorders (summary by Ombrello et al., 2012).For a discussion of genetic heterogeneity of FCAS, see FCAS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Familial Cold Autoinflammatory Syndrome 3; Fcas3

  • Pica
  • Milia
  • Pain
  • Edema
  • Fever
  • Recurrent infections
  • Erythema
  • Arthralgia
  • Ranula
  • Pruritus
And another 11 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Familial Cold Autoinflammatory Syndrome 3; Fcas3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PLCG2.

By Institute for Human Genetics University Clinic Freiburg in Germany.

PLCG2
Specificity
100 %
Genes
100 %
Primary Antibody Deficiency Panel, Sequencing (35 Genes) and Deletion/Duplication (26 Genes).

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

UNG, ADA, IKBKG, ATM, MRE11, NBN, BTK, SH2D1A, TNFRSF13B, AICDA, CD40, CD40LG, RAG2, XIAP, PTPRC, PIK3CD, LRBA, NFKBIA, NFKB2, PIK3R1 , (...)

View the complete list with 15 more genes
Specificity
3 %
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 %
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 %
Single gene testing PLCG2.

By CeGaT GmbH in Germany.

PLCG2
Specificity
100 %
Genes
100 %
Invitae Common Variable Immunodeficiency Panel.

By Invitae in United States.

STAT3, TNFRSF13B, RAC2, PIK3CD, LRBA, CD27, NFKB2, CTLA4, PIK3R1, CR2, ICOS, TNFRSF13C, PRKCD, PLCG2, IL21, IL21R, TNFSF12
Specificity
6 %
Genes
100 %
Invitae Monogenic Autoimmunity Panel.

By Invitae in United States.

STAT1, CASP8, AP3B1, UNG, CYBA, STAT3, PNP, AIRE, RMRP, PRF1, CYBB, SLC7A7, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Invitae Monogenic Inflammatory Bowel Disease Panel.

By Invitae in United States.

STAT1, SLC37A4, CYBA, STAT3, ADA, IL2RG, CYBB, DCLRE1C, RTEL1, WAS, BTK, MVK, FOXP3, DKC1, DOCK8, MEFV, SH2D1A, NCF2, NCF4, STIM1 , (...)

View the complete list with 26 more genes
Specificity
3 %
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 %
Invitae Familial Cold Autoinflammatory Syndrome Panel.

By Invitae in United States.

NLRP3, NLRC4, NLRP12, PLCG2
Specificity
25 %
Genes
100 %
PLCG2.

By Fulgent Genetics Fulgent Genetics in United States.

PLCG2
Specificity
100 %
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 %
Focus::MCL™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, TP53, ATM, CDKN2A, BTK, GRIN2A, KMT2D, FAT4, NOTCH1, EZH2, ABCC9, SMARCA4, TET2, MYD88, PIK3CD, SI, POT1, NSD2, KDR, PLCG2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Focus::CLL™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, TP53, BRAF, KRAS, MAP2K1, NRAS, ATM, CDKN2A, BTK, MED12, ZMYM3, NOTCH1, SF3B1, MYD88, POT1, CARD11, PLCG2, BIRC3, IRF4, IKZF3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Focus::DLBCL&FL™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, TP53, STAT3, BRAF, CREBBP, KRAS, ATM, CDKN2A, BTK, KMT2D, MTOR, NOTCH1, EZH2, ARID1A, EP300, TET2, MYD88, IKZF1, FAS, PIK3CD , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Focus::Lymphoma™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, TP53, STAT3, BRAF, CREBBP, KRAS, ATM, CDKN2A, BTK, KMT2D, MTOR, NOTCH1, EZH2, ARID1A, EP300, TET2, MYD88, IKZF1, FAS, PIK3CD , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
100 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
100 %
Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes.

By Reference Laboratory Genetics in Spain.

TGFB1, CYBA, IL2RG, IKBKG, TINF2, CYBB, WAS, GATA3, FOXP1, FOXP3, DKC1, ABCB1, TERC, TERT, SH2D1A, NCF2, NCF4, WRAP53, NOD2, CD40LG , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %

Alternate names

Familial Cold Autoinflammatory Syndrome 3; Fcas3 Is also known as antibody deficiency and immune dysregulation, plcg2-associated;plaid, familial atypical cold urticaria;facu;facu; familial atypical cold urticaria; familial cold urticaria with common variable immunodeficiency; plaid.



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