Familial Cold Autoinflammatory Syndrome 4; Fcas4

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Familial Cold Autoinflammatory Syndrome 4; Fcas4

NLRC4

View recommended genes panels

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 Panel complete gene list SH2D1A, SLC7A7, BTK, STX11, STXBP2, TNFRSF1A, CD27, CD70, WAS, NLRP3, NLRC4, ADA, LYST, UNC13D, MAGT1, AP3B1, XIAP, IL2RA, IL2RG, ITK, MEFV, MVK, PNP, BLOC1S6, PRF1, RAB27A 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 Panel complete gene list SH2D1A, BTK, STAT1, STAT3, STIM1, STXBP2, CD40LG, WAS, ZAP70, AICDA, RTEL1, NLRC4, CD3G, LRBA, DCLRE1C, ADA, DOCK8, ADAM17, TTC7A, G6PC3, CTLA4, CYBA, CYBB, DKC1, SLC37A4, ICOS, XIAP, IL10, IL10RA, IL10RB, IL21, IL2RA, IL2RG, FOXP3, ITGB2, LIG4, MEFV, MVK, NCF2, NCF4, NFAT5, PIK3CD, PIK3R1, PLCG2, RAG1, RAG2 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 Panel complete gene list RMRP, RORC, SEMA3E, SH2D1A, SH3BP2, SLC7A7, SMARCAL1, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TAZ, TBK1, TCN2, TERC, TERT, TINF2, TLR3, TNFRSF1A, TNFRSF4, FAS, CD27, TNFSF12, CD40LG, FASLG, TPP2, TRAF3, TREX1, ACP5, TYK2, UNG, WAS, WIPF1, FOXN1, ZAP70, ACTB, AICDA, TRAF3IP2, UNC93B1, ITCH, BLNK, NHP2, NOP10, LPIN2, VPS45, CASP10, CASP8, SPINK5, IL36RN, RBCK1, RTEL1, SAMHD1, CARD9, CARD11, NLRP3, IL17F, NLRC4, CARD14, CD3D, CD3E, CD3G, CD247, HAX1, CD79A, CD79B, CD8A, TRNT1, LRBA, DCLRE1B, DCLRE1C, TNFRSF13C, IRAK4, TMC6, TNFRSF13B, TICAM1, IL17RC, CEBPE, ADA2, RNASEH2A, ADA, IFIH1, DOCK8, ADAM17, LYST, TTC7A, SLC35C1, TMC8, CHD7, ZBTB24, VPS13B, COPA, ADAR, CORO1A, NLRP12, SLC29A3, UNC13D, FERMT3, CR2, RNASEH2C, CSF2RA, CSF3R, G6PC3, MOGS, CTLA4, ACD, CTPS1, CTSC, CXCR4, RNASEH2B, NHEJ1, CYBA, CYBB, ORAI1, CTC1, JAGN1, TMEM173, MAGT1, DKC1, EPG5, DNMT3B, LAMTOR2, DOCK2, CLPB, ELANE, FADD, AIRE, AK2, FPR1, ISG15, SLC37A4, GATA2, GFI1, TAP1, TAP2, NOD2, ICOS, IRF8, SP110, IFNGR1, IFNGR2, AP3B1, IGLL1, XIAP, IKBKB, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL1RN, IL21, IL21R, IL2RA, IL2RG, IL7R, FOXP3, IRF7, ITGB2, ITK, JAK3, LCK, LIG4, MALT1, MAP3K14, RHOH, MEFV, CIITA, MVK, MYD88, NBN, NCF2, NCF4, NFAT5, NFKB2, NFKBIA, PNP, ATM, BLOC1S6, PARN, PGM3, PIK3CD, PIK3R1, PLCG2, PMS2, B2M, POLE, PRF1, PRKCD, PRKDC, PSMB8, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, BCL10, RFX5, RFXANK, RFXAP 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 Panel complete gene list SH3BP2, TNFRSF1A, LPIN2, IL36RN, RBCK1, NLRP3, NLRC4, CARD14, TRNT1, ADA2, ADAM17, COPA, NLRP12, SLC29A3, ELANE, NOD2, IL10, IL10RA, IL10RB, IL1RN, MEFV, MVK, NFAT5, PLCG2, PSMB8, PSTPIP1 Specificity 4 % Genes 100 %

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

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TRIMETHYLAMINURIA; TMAU KEARNS-SAYRE SYNDROME; KSS AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME ACROMELIC FRONTONASAL DYSOSTOSIS; AFND THYROID CANCER, NONMEDULLARY, 1; NMTC1 TYROSINEMIA, TYPE II; TYRSN2