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Dermatosparaxis Ehlers-Danlos syndrome

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Name:
Dermatosparaxis Ehlers-Danlos syndrome
Description:
A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.
ORPHAcode:
1901
Synonyms:
Dermatosparaxis EDS
Ehlers-Danlos syndrome type 7C
Human dermatosparaxis EDS VIIC
dEDS
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
ADAMTS2
ADAMTSL2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Ehlers-Danlos syndrome -UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADAMTS2 100.00 1
    AEBP1 100.00 1
    B3GALT6 100.00 1
    B3GAT3 100.00 1
    B4GALT7 100.00 1
    C1R 100.00 1
    C1S 100.00 1
    CHST14 100.00 1
    COL12A1 100.00 1
    COL1A1 100.00 1
    COL1A2 100.00 1
    COL3A1 100.00 1
    COL5A1 100.00 1
    COL5A2 100.00 1
    DSE 100.00 1
    FKBP14 100.00 1
    PLOD1 100.00 1
    PRDM5 100.00 1
    RIN2 100.00 1
    SLC39A13 100.00 1
    XYLT1 100.00 1
    XYLT2 100.00 1
    ZNF469 100.00 1
    FLNA 100.00 1
    FLNB 100.00 1
    TAB2 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%
  • Recessive Ehlers-Danlos Syndrome (11 genes) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    B3GALT6
    XYLT1
    B3GAT3
    B4GALT7
    PLOD1
    FKBP14
    SLC39A13
    CHST14
    DSE
    ADAMTS2
    RIN2