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Weill-Marchesani syndrome

Disease Export to PDF
Name:
Weill-Marchesani syndrome
Description:
Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.
ORPHAcode:
3449
Synonyms:
Spherophakia-brachymorphia syndrome
XREF(s):
Orphanet
MedDRA
OMIM
OMIM
OMIM
MeSH
ICD-10
Analyte(s):
ADAMTS10
FBN1
LTBP2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Ectopia lentis (3 gènes)
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    LTBP2
    ADAMTSL4
    FBN1
  • Familial Thoracic Aortic Aneurysm (21 genes) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACTA2 100.00 1
    BGN 100.00 1
    COL3A1 100.00 1
    FBN1 100.00 1
    FOXE3 100.00 1
    HCN4 100.00 1
    LOX 100.00 1
    LTBP3 100.00 1
    MAT2A 100.00 1
    MFAP5 100.00 1
    MYH11 100.00 1
    MYLK 100.00 1
    PRKG1 100.00 1
    SMAD2 100.00 1
    SMAD3 100.00 1
    TGFB2 100.00 1
    TGFB3 100.00 1
    TGFBR1 100.00 1
    TGFBR2 100.00 1
    IPO8 100.00 1
    EFEMP2 100.00 1
  • Glaucoma - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADAMTS10 99.99 1
    ADAMTS17 99.99 1
    B3GLCT 99.90 1
    BEST1 99.86 1
    COL18A1 99.99 1
    COL4A1 99.99 1
    CPAMD8 99.97 1
    CREBBP 99.97 1
    CYP1B1 100.00 1
    RIGI 99.84 1
    FBN1 99.85 1
    FOXC1 100.00 1
    FOXD3 99.85 1
    FOXE3 99.29 1
    GJA1 100.00 1
    IFIH1 99.84 1
    LMX1B 100.00 1
    LTBP2 99.97 1
    MYOC 99.98 1
    NTF4 100.00 1
    OCRL 99.89 1
    OPTN 99.98 1
    PAX6 99.95 1
    PITX2 99.98 1
    PITX3 100.00 1
    SBF2 99.77 1
    SH3PXD2B 100.00 1
    TBK1 99.07 1
    TEK 99.98 1
    WDR36 99.46 1
    ASB1 99.98 1
  • Weill-Marchesani - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADAMTS10 100.00 1
    ADAMTS17 100.00 1
    FBN1 100.00 1
    LTBP2 100.00 1
    SMAD4 100.00 1