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Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

Disease Export to PDF
Name:
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Description:
A rare, syndromic genetic deafness disease characterized by symmetric or asymmetric knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and congenital, mild to moderate sensorineural deafness.
ORPHAcode:
2698
Synonyms:
Bart-Pumphrey syndrome
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome
Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome
Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
GJB2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Epidermolysis bullosa and bladder diseases (60 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADAMTS2 95.00 0 NM_014244.5/ interpretable range CS1>95%
    ATP2A2 95.00 0 NM_001681.4/ interpretable range CS1>95%
    ATP2C1 95.00 0 NM_014382.5/ interpretable range CS1>95%
    CAST 95.00 0 NM_001042440.5/ interpretable range CS1>95%
    CD151 95.00 0 NM_004357.5/ interpretable range CS1>95%
    CDSN 95.00 0 NM_001264.5/ interpretable range CS1>95%
    CHST14 95.00 0 NM_130468.4/ interpretable range CS1>95%
    CHST8 95.00 0 NM_001127896.2/ interpretable range CS1>95%
    COL17A1 95.00 0 NM_000494.4/ interpretable range CS1>95%
    COL5A1 95.00 0 NM_000093.5/ interpretable range CS1>95%
    COL5A2 95.00 0 NM_000393.5/ interpretable range CS1>95%
    COL7A1 95.00 0 NM_000094.4/ interpretable range CS1>95%
    CSTA 95.00 0 NM_005213.4/ interpretable range CS1>95%
    CSTB 95.00 0 NM_000100.4/ interpretable range CS1>95%
    DSC3 95.00 0 NM_024423.4/ interpretable range CS1>95%
    DSG1 95.00 0 NM_001942.4/ interpretable range CS1>95%
    DSG2 95.00 0 NM_001943.5/ interpretable range CS1>95%
    DSG3 95.00 0 NM_001944.3/ interpretable range CS1>95%
    DSG4 95.00 0 NM_177986.5/ interpretable range CS1>95%
    DSP 95.00 0 NM_004415.4/ interpretable range CS1>95%
    DST 95.00 0 NM_001723.7/ interpretable range CS1>95%
    EXPH5 95.00 0 NM_015065.3/ interpretable range CS1>95%
    FERMT1 95.00 0 NM_017671.5/ interpretable range CS1>95%
    FLG2 95.00 0 NM_001014342.3/ interpretable range CS1>95%
    GJB2 95.00 0 NM_004004.6/ interpretable range CS1>95%
    GRIP1 95.00 0 NM_021150.4/ interpretable range CS1>95%
    IKBKG 95.00 0 NM_001099857.5/ interpretable range CS1>95%
    ITGA3 95.00 0 NM_002204.4/ interpretable range CS1>95%
    ITGA6 95.00 0 NM_000210.4/ interpretable range CS1>95%
    ITGB4 95.00 0 NM_001005731.3/ interpretable range CS1>95%
    JUP 95.00 0 NM_002230.4/ interpretable range CS1>95%
    KLHL24 95.00 0 NM_017644.3/ interpretable range CS1>95%
    KRT1 95.00 0 NM_006121.4/ interpretable range CS1>95%
    KRT10 95.00 0 NM_000421.5/ interpretable range CS1>95%
    KRT14 95.00 0 NM_000526.5/ interpretable range CS1>95%
    KRT16 95.00 0 NM_005557.4/ interpretable range CS1>95%
    KRT17 95.00 0 NM_000422.3/ interpretable range CS1>95%
    KRT2 95.00 0 NM_000423.3/ interpretable range CS1>95%
    KRT5 95.00 0 NM_000424.4/ interpretable range CS1>95%
    KRT6A 95.00 0 NM_005554.4/ interpretable range CS1>95%
    KRT6B 95.00 0 NM_005555.4/ interpretable range CS1>95%
    KRT6C 95.00 0 NM_173086.5/ interpretable range CS1>95%
    KRT9 95.00 0 NM_000226.4/ interpretable range CS1>95%
    LAMA3 95.00 0 NM_000227.6/ interpretable range CS1>95%
    LAMB3 95.00 0 NM_000228.3/ interpretable range CS1>95%
    LAMC2 95.00 0 NM_005562.3/ interpretable range CS1>95%
    MMP1 95.00 0 NM_002421.4/ interpretable range CS1>95%
    NID1 95.00 0 NM_002508.3/ interpretable range CS1>95%
    PKP1 95.00 0 NM_001005337.3/ interpretable range CS1>95%
    PLEC 95.00 0 NM_000445.5/ interpretable range CS1>95%
    PLOD3 95.00 0 NM_001084.5/ interpretable range CS1>95%
    SERPINB8 95.00 0 NM_198833.2/ interpretable range CS1>95%
    SLC39A4 95.00 0 NM_130849.4/ interpretable range CS1>95%
    SPINK5 95.00 0 NM_006846.4/ interpretable range CS1>95%
    TGM5 95.00 0 NM_201631.4/ interpretable range CS1>95%
    TP63 95.00 0 NM_003722.5/ interpretable range CS1>95%
    UROD 95.00 0 NM_000374.5/ interpretable range CS1>95%
    UROS 95.00 0 NM_000375.3/ interpretable range CS1>95%
    WNT10A 95.00 0 NM_025216.3/ interpretable range CS1>95%
  • 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