- Diseases
- Familial cold urticaria
Familial cold urticaria
Name: |
Familial cold urticaria
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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.
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ORPHAcode: |
47045
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Synonyms: |
FCAS
FCU
Familial cold autoinflammatory syndrome
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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Corneal dystrophy - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AGBL1 99.99 1 CHRDL1 99.94 1 CHST6 100.00 1 COL17A1 99.98 1 COL3A1 99.87 1 COL5A1 99.99 1 COL8A2 99.94 1 CYP4V2 99.98 1 DCN 99.42 1 GRHL2 100.00 1 GSN 99.93 1 KERA 99.95 1 KRT12 99.92 1 KRT3 99.89 1 LCAT 99.97 1 LOXHD1 99.99 1 NLRP1 95.26 1 NLRP3 100.00 1 OVOL2 100.00 1 PAX6 99.95 1 PIKFYVE 99.81 1 PITX2 99.98 1 PRDM5 99.76 1 SLC4A11 100.00 1 SOD1 99.97 1 STS 99.81 1 TACSTD2 100.00 1 TCF4 98.56 1 TGFBI 99.89 1 UBIAD1 99.98 1 VSX1 99.93 1 ZEB1 100.00 1 ZNF469 100.00 1 -
Periodic Fever (88 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACP5 0.00 0 , ADAM17 0.00 0 , ADAR 0.00 0 , AP1S3 0.00 0 , CARD14 0.00 0 , CASP1 0.00 0 , CASP10 0.00 0 , CDC42 0.00 0 , CEBPE 0.00 0 , ADA2 0.00 0 , COPA 0.00 0 , RIGI 0.00 0 , DNASE2 0.00 0 , DOCK8 0.00 0 , ELF4 0.00 0 , ADGRE2 0.00 0 , F12 0.00 0 , OTULIN 0.00 0 , FAS 0.00 0 , FASLG 0.00 0 , FBLIM1 0.00 0 , HMOX1 0.00 0 , IFIH1 0.00 0 , IKBKG 0.00 0 , IL10 0.00 0 , IL10RA 0.00 0 , IL10RB 0.00 0 , IL1RN 0.00 0 , IL36RN 0.00 0 , LACC1 0.00 0 , LPIN2 0.00 0 , LSM11 0.00 0 , LYN 0.00 0 , MDFIC 0.00 0 , MEFV 0.00 0 , MVK 0.00 0 , NCKAP1L 0.00 0 , NCSTN 0.00 0 , NLRC4 0.00 0 , NLRP1 0.00 0 , NLRP12 0.00 0 , NLRP3 0.00 0 , NLRP7 0.00 0 , NOD2 0.00 0 , PLCG2 0.00 0 , POLA1 0.00 0 , POMP 0.00 0 , PSENEN 0.00 0 , PSMA3 0.00 0 , PSMB10 0.00 0 , PSMB4 0.00 0 , PSMB8 0.00 0 , PSMB9 0.00 0 , PSMG2 0.00 0 , PSTPIP1 0.00 0 , PTEN 0.00 0 , PYCARD 0.00 0 , RBCK1 0.00 0 , RELA 0.00 0 , RIPK1 0.00 0 , RNASEH2A 0.00 0 , RNASEH2B 0.00 0 , RNASEH2C 0.00 0 , RNF213 0.00 0 , RNF31 0.00 0 , RNU7-1 0.00 0 , SAMD9L 0.00 0 , SAMHD1 0.00 0 , SERPING1 0.00 0 , SH3BP2 0.00 0 , SHARPIN 0.00 0 , SLC29A3 0.00 0 , STAT2 0.00 0 , SYK 0.00 0 , STING1 0.00 0 , TNFAIP3 0.00 0 , TNFRSF11A 0.00 0 , TNFRSF1A 0.00 0 , TNFRSF9 0.00 0 , TRAP1 0.00 0 , TREX1 0.00 0 , TRNT1 0.00 0 , UBA1 0.00 0 , UNC13B 0.00 0 , USP18 0.00 0 , WAS 0.00 0 , WDR1 0.00 0 , XIAP 0.00 0 ,