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Pityriasis rubra pilaris

Disease Export to PDF
Name:
Pityriasis rubra pilaris
Description:
Pityriasis rubra pilaris is a rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.
ORPHAcode:
2897
XREF(s):
Orphanet
OMIM
MeSH
MedDRA
ICD-10
Analyte(s):
CARD14
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Ichthyosis and erythroderma (98 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCA12 95.00 0 NM_173076.3
    ABHD5 95.00 0 NM_016006.6
    ADAM17 95.00 0 NM_003183.6
    ALDH3A2 95.00 0 NM_000382.3
    ALOX12B 95.00 0 NM_001139.3
    ALOXE3 95.00 0 NM_021628.3
    AP1B1 95.00 0 NM_001127.4
    AP1S1 95.00 0 NM_001283.5
    ASPRV1 95.00 0 NM_152792.4
    ASS1 95.00 0 NM_000050.4
    ATP7A 95.00 0 NM_000052.7
    BCKDHA 95.00 0 NM_000709.4
    BCKDHB 95.00 0 NM_183050.4
    BTD 95.00 0 NM_001370658.1
    BTK 95.00 0 NM_000061.3
    CAPN12 95.00 0 NM_144691.4
    CARD14 95.00 0 NM_024110.4
    CASP14 95.00 0 NM_012114.3
    CAST 95.00 0 NM_001042440.5
    CDSN 95.00 0 NM_001264.5
    CERS3 95.00 0 NM_178842.5
    CHST8 95.00 0 NM_001127896.2
    CLDN1 95.00 0 NM_021101.5
    CPS1 95.00 0 NM_001875.5
    CSTA 95.00 0 NM_005213.4
    CTSB 95.00 0 NM_001908.5
    CYP4F22 95.00 0 NM_173483.4
    DBT 95.00 0 NM_001918.5
    DCLRE1C 95.00 0 NM_001033855.3
    DLD 95.00 0 NM_000108.5
    DSG1 95.00 0 NM_001942.4
    EBP 95.00 0 NM_006579.3
    ELOVL1 95.00 0 NM_001256399.2
    ELOVL4 95.00 0 NM_022726.4
    ERCC2 95.00 0 NM_000400.4
    ERCC3 95.00 0 NM_000122.2
    FLG 95.00 0 NM_002016.2
    FLG2 95.00 0 NM_001014342.3
    GBA1 95.00 0 NM_001005741.3
    GJA1 95.00 0 NM_000165.5
    GJB2 95.00 0 NM_004004.6
    GJB3 95.00 0 NM_024009.3
    GJB4 95.00 0 NM_153212.3
    GJB6 95.00 0 NM_006783.5
    GTF2E2 95.00 0 NM_002095.6
    GTF2H5 95.00 0 NM_207118.3
    HLCS 95.00 0 NM_000411.8
    IL36RN 95.00 0 NM_012275.3
    KDSR 95.00 0 NM_002035.4
    KIT 95.00 0 NM_000222.3
    KRT1 95.00 0 NM_006121.4
    KRT10 95.00 0 NM_000421.5
    KRT14 95.00 0 NM_000526.5
    KRT16 95.00 0 NM_005557.4
    KRT2 95.00 0 NM_000423.3
    KRT5 95.00 0 NM_000424.4
    KRT6C 95.00 0 NM_173086.5
    KRT83 95.00 0 NM_002282.3
    KRT9 95.00 0 NM_000226.4
    LIPN 95.00 0 NM_001102469.2
    LORICRIN 95.00 0 NM_000427.3
    MBTPS2 95.00 0 NM_015884.4
    MPLKIP 95.00 0 NM_138701.4
    MMUT 95.00 0 NM_000255.4
    NIPAL4 95.00 0 NM_001099287.2
    NSDHL 95.00 0 NM_015922.3
    PCCA 95.00 0 NM_000282.4
    PCCB 95.00 0 NM_000532.5
    PERP 95.00 0 NM_022121.5
    PEX7 95.00 0 NM_000288.4
    PHYH 95.00 0 NM_006214.4
    PIGL 95.00 0 NM_004278.4
    PNPLA1 95.00 0 NM_001145717.1
    POMP 95.00 0 NM_015932.6
    RAG1 95.00 0 NM_000448.3
    RAG2 95.00 0 NM_000536.4
    RNF113A 95.00 0 NM_006978.3
    SDR9C7 95.00 0 NM_148897.3
    SERPINB7 95.00 0 NM_003784.4
    SERPINB8 95.00 0 NM_198833.2
    SGPL1 95.00 0 NM_003901.4
    SLC25A13 95.00 0 NM_014251.3
    SLC27A4 95.00 0 NM_005094.4
    SLC30A2 95.00 0 NM_001004434.3
    SLC39A4 95.00 0 NM_130849.4
    SNAP29 95.00 0 NM_004782.4
    SPINK5 95.00 0 NM_006846.4
    SREBF1 95.00 0 NM_004176.5
    ST14 95.00 0 NM_021978.4
    STS 95.00 0 NM_000351.7
    SULT2B1 95.00 0 NM_177973.2
    SUMF1 95.00 0 NM_182760.4
    TBX1 95.00 0 NM_080647.1
    TGM1 95.00 0 NM_000359.3
    TGM5 95.00 0 NM_201631.4
    TRPM4 95.00 0 NM_017636.4
    VIPAS39 95.00 0 NM_022067.4
    VPS33B 95.00 0 NM_018668.5
  • 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 ,