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B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

Disease Export to PDF
Name:
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
Description:
A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B3GALT6 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, bowing of limbs and congenital or early onset, progressive kyphoscoliosis. Additional features include the typical craniofacial gestalt (prominent forehead, sparse hair, mid-face hypoplasia, blue sclerae, proptosis and abnormal dentition), hyperextensible, soft, thin, translucent and doughy skin, delayed motor and/or cognitive development, characteristic radiographic findings (spondyloepimetaphyseal dysplasia, platyspondyly, anterior beak of vertebral body, short ilia, elbow malalignment and generalized osteoporosis), joint contractures and ascending aortic aneurysm.
ORPHAcode:
536467
Synonyms:
B3GALT6-related spEDS
B3GALT6-related spondylodysplastic EDS
Beta3GalT6-deficient EDS
Ehlers-Danlos syndrome progeroid type 2
spEDS-B3GALT6
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
B3GALT6
Created:
17 Jul 2019 - 01:41
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
  • Osteogenesis imperfecta and Osteoporosis (43 genes) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACAN 100.00 1
    ALPL 100.00 1
    B3GALT6 100.00 1
    BMP1 100.00 1
    COL1A1 100.00 1
    COL1A2 100.00 1
    CREB3L1 100.00 1
    CRTAP 100.00 1
    FKBP10 100.00 1
    IFITM5 100.00 1
    P3H1 100.00 1
    LRP5 100.00 1
    LRP6 100.00 1
    MBTPS2 100.00 1
    MIA3 100.00 1
    NBAS 100.00 1
    P4HB 100.00 1
    PLOD2 100.00 1
    PLS3 100.00 1
    PPIB 100.00 1
    SEC16B 100.00 1
    SEC24D 100.00 1
    SERPINF1 100.00 1
    SERPINH1 100.00 1
    SP7 100.00 1
    SPARC 100.00 1
    TAPT1 100.00 1
    TENT5A 100.00 1
    WNT1 100.00 1
    TMEM38B 100.00 1
    LIFR 100.00 1
    ARF5 100.00 1
    BICDL1 100.00 1
    CCDC134 100.00 1
    COPB2 100.00 1
    KDELR2 100.00 1
    MESD 100.00 1
    PHEX 100.00 1
    SGMS2 100.00 1
    STX18 100.00 1
    SUCO 100.00 1
    WNT3A 100.00 1
    XYLT2 100.00 1