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Cardiac-valvular Ehlers-Danlos syndrome

Disease Export to PDF
Name:
Cardiac-valvular Ehlers-Danlos syndrome
Description:
A rare form of Ehlers-Danlos syndrome (EDS) characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and severe, progressive cardiac valvular defects comprising mitral and/or aortic valve insufficiency.
ORPHAcode:
230851
Synonyms:
Cardiac-valvular EDS
cvEDS
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
COL1A2
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
  • 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