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Classical Ehlers-Danlos syndrome

Disease Export to PDF
Name:
Classical Ehlers-Danlos syndrome
Description:
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility.
ORPHAcode:
287
Synonyms:
Classical EDS
cEDS
XREF(s):
Orphanet
OMIM
OMIM
ICD-10
Analyte(s):
COL5A2
COL5A1
COL1A1
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
  • Ehlers Danlos classic type (2 genes) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    COL5A1
    COL5A2
  • 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
  • Familial Thoracic Aortic Aneurysm (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABL1 100.00 0
    ACTA2 100.00 0
    ARIH1 100.00 0
    ASPH 100.00 0
    BGN 100.00 0
    COL3A1 100.00 0
    EFEMP2 100.00 0
    ELN 100.00 0
    EMILIN1 100.00 0
    FBN1 100.00 1
    FBN2 100.00 0
    FKBP14 100.00 0
    FLNA 100.00 0
    FOXE3 100.00 0
    HCN4 100.00 0
    IPO8 100.00 0
    JAG1 100.00 0
    LMOD1 100.00 0
    LOX 100.00 0
    LTBP3 100.00 0
    MAT2A 100.00 0
    MFAP5 100.00 0
    MYH11 100.00 0
    MYLK 100.00 0
    NOTCH1 100.00 0
    NPR3 100.00 0
    PLOD1 100.00 0
    PMEPA1 100.00 0
    PRKG1 100.00 0
    ROBO4 100.00 0
    SKI 100.00 0
    SLC2A10 100.00 0
    SMAD2 100.00 0
    SMAD3 100.00 0
    SMAD4 100.00 0
    SMAD6 100.00 0
    TBX20 100.00 0
    TGFB2 100.00 0
    TGFB3 100.00 0
    TGFBR1 100.00 0
    TGFBR2 100.00 1
    THSD4 100.00 0
  • Osteogenesis Imperfecta (25 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ANO5 95.00 0 NM_213599.3
    BMP1 95.00 0 NM_006129.5
    COL1A1 95.00 0 NM_000088.4
    COL1A2 95.00 0 NM_000089.4
    CREB3L1 95.00 0 NM_052854.4
    CRTAP 95.00 0 NM_006371.5
    FKBP10 95.00 0 NM_021939.4
    IFITM5 95.00 0 NM_001025295.3
    LRP5 95.00 0 NM_002335.4
    MBTPS2 95.00 0 NM_015884.4
    P3H1 95.00 0 NM_022356.4
    P4HB 95.00 0 NM_000918.4
    PLOD2 95.00 0 NM_182943.3
    PLS3 95.00 0 NM_005032.7
    PPIB 95.00 0 NM_000942.5
    SEC24D 95.00 0 NM_014822.4
    SERPINF1 95.00 0 NM_002615.7
    SERPINH1 95.00 0 NM_001235.5
    SGMS2 95.00 0 NM_001136257.2
    SP7 95.00 0 NM_001173467.3
    SPARC 95.00 0 NM_003118.4
    TENT5A 95.00 0 NM_017633.3
    TMEM38B 95.00 0 NM_018112.3
    WNT1 95.00 0 NM_005430.4
    XYLT2 95.00 0 NM_022167.4