Familial Cold Autoinflammatory Syndrome 4; Fcas4

Clinical Features

Phenotypes and symptoms related to Familial Cold Autoinflammatory Syndrome 4; Fcas4

  • Pain
  • Splenomegaly
  • Arthralgia
  • Skin rash
  • Pruritus
  • Urticaria

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Familial Cold Autoinflammatory Syndrome 4; Fcas4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NLRC4 Sequencing.

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

NLRC4
Specificity
100 %
Genes
100 %
NLRC4.

By Institute for Human Genetics University Clinic Freiburg (Germany).

NLRC4
Specificity
100 %
Genes
100 %
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SH2D1A, SLC7A7, BTK, STX11, STXBP2, TNFRSF1A, CD27, CD70, WAS, NLRP3, NLRC4, ADA, LYST, UNC13D, MAGT1, AP3B1, XIAP, IL2RA, IL2RG, ITK , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Single gene testing NLRC4.

By CeGaT GmbH (Germany).

NLRC4
Specificity
100 %
Genes
100 %
Invitae Periodic Fever Syndromes Panel.

By Invitae (United States).

TNFRSF1A, LPIN2, NLRP3, NLRC4, TRNT1, ADA2, NLRP12, ELANE, MEFV, MVK, PSMB8, PSTPIP1
Specificity
9 %
Genes
100 %
Invitae Monogenic Inflammatory Bowel Disease Panel.

By Invitae (United States).

SH2D1A, BTK, STAT1, STAT3, STIM1, STXBP2, CD40LG, WAS, ZAP70, AICDA, RTEL1, NLRC4, CD3G, LRBA, DCLRE1C, ADA, DOCK8, ADAM17, TTC7A, G6PC3 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae (United States).

RMRP, RORC, SEMA3E, SH2D1A, SH3BP2, SLC7A7, SMARCAL1, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TAZ, TBK1, TCN2 , (...)

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

By Invitae (United States).

SH3BP2, TNFRSF1A, LPIN2, IL36RN, RBCK1, NLRP3, NLRC4, CARD14, TRNT1, ADA2, ADAM17, COPA, NLRP12, SLC29A3, ELANE, NOD2, IL10, IL10RA, IL10RB, IL1RN , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %

You can get up to 7 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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