1. Diseases
  2. Localized junctional epidermolysis bullosa

Localized junctional epidermolysis bullosa

Disease Export to PDF
Name:
Localized junctional epidermolysis bullosa
Description:
A form of junctional epidermolysis bullosa characterized by neonatal onset of localized blistering, and dystrophic or absent nails. Skin blistering is mainly confined to hands, feet, lower legs and face. Additional findings may include dental enamel hypoplasia and an increased incidence of caries.
ORPHAcode:
251393
Synonyms:
JEB-nH loc
Junctional epidermolysis bullosa, non-Herlitz localized type
Localized JEB
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
COL17A1
ITGB4
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
  • 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%