Familial Cold Urticaria

Table of contents:

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

Description

Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.

Genes related to Familial Cold Urticaria

NLRC4
NLRP3

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Familial Cold Urticaria

Sensorineural hearing impairment
Fever
Fatigue
Headache
Hyperhidrosis
Abdominal pain
Arthralgia
Myalgia
Arthritis
Erythema

And another 7 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Alternative names

Familial Cold Urticaria Is also known as fcas, familial cold autoinflammatory syndrome, fcu.

Researches and researchers

Doctors, researchs, and experts related to Familial Cold Urticaria extracted from public data.

Familial Cold Urticaria Experts map

Current Researchs and researchers

GENOVA — Dr Isabella CECCHERINI
Responsible for diagnostic tests - Investigator of research project
- Institution/s:
  — S.C. di Genetica Molecolare e Citogenetica, IRCCS Istituto G. Gaslini - Ospedale Pediatrico
- Research area/topic::
  Effects of CIAS-1 mutations in the pathogenesis of Cryopyrin associated periodic syndromes. Search for new genes and novel therapeutic strategies

Familial Cold Urticaria 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 50 %
NLRC4. By Institute for Human Genetics University Clinic Freiburg (Germany). NLRC4 Specificity 100 % Genes 50 %
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 8 % Genes 100 %
Single gene testing NLRC4. By CeGaT GmbH (Germany). NLRC4 Specificity 100 % Genes 50 %
Invitae Periodic Fever Syndromes Panel. By Invitae (United States). TNFRSF1A, LPIN2, NLRP3, NLRC4, TRNT1, ADA2, NLRP12, ELANE, MEFV, MVK, PSMB8, PSTPIP1 Specificity 17 % 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 50 %
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 8 % Genes 100 %