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Intermediate generalized junctional epidermolysis bullosa

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Name:
Intermediate generalized junctional epidermolysis bullosa
Description:
A form of junctional epidermolysis bullosa (JEB) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.
ORPHAcode:
79402
Synonyms:
Generalized atrophic benign epidermolysis bullosa
Generalized junctional epidermolysis bullosa, non-Herlitz type
Intermediate generalized JEB
Junctional epidermolysis bullosa generalisata mitis
Junctional epidermolysis bullosa, Disentis type
XREF(s):
Orphanet
OMIM
ICD-10
OMIM
OMIM
OMIM
OMIM
Analyte(s):
COL17A1
ITGB4
LAMA3
LAMB3
LAMC2
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%