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CINCA syndrome

Disease Export to PDF
Name:
CINCA syndrome
Description:
A rare, genetic, cryopyrin-associated periodic syndrome (CAPS) characterized by neonatal onset of systemic inflammation, urticarial skin rash and arthritis/arthralgia resulting in severe arthropathy and central nervous system involvement (including chronic aseptic meningitis, brain atrophy and sensorineural hearing loss).
ORPHAcode:
1451
Synonyms:
Chronic infantile neurological cutaneous and articular syndrome
IOMID syndrome
Infantile-onset multisystem inflammatory disease
NOMID syndrome
Neonatal-onset multisystem inflammatory disease
Prieur-Griscelli syndrome
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
NLRP3
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • 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 ,