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Osteogenesis imperfecta type 5

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Name:
Osteogenesis imperfecta type 5
Description:
A moderate form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests with susceptibility to bone fractures of variable severity, metaphyseal changes at birth, short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus (occurring more often during periods of more rapid growth), white sclera and absence of dentinogenesis imperfecta.
ORPHAcode:
216828
Synonyms:
OI type 5
XREF(s):
Orphanet
MeSH
ICD-10
OMIM
Analyte(s):
IFITM5
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Osteogenesis imperfecta (3 genes) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    COL1A1
    COL9A2
    IFITM5
  • 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