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Osteogenesis imperfecta type 3

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Name:
Osteogenesis imperfecta type 3
Description:
A severe type form osteogenesis imperfecta characterized by increased bone fragility and low bone mass clinically manifesting as susceptibility to bone fractures, severe short stature, a triangular face, moderate to severe scoliosis, blue or blue-grey sclera, and dentinogenesis imperfecta.
ORPHAcode:
216812
Synonyms:
OI type 3
Progressive deforming osteogenesis imperfecta
Severe osteogenesis imperfecta
XREF(s):
Orphanet
ICD-10
MeSH
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
Analyte(s):
COL1A1
COL1A2
P3H1
CRTAP
CREB3L1
PPIB
SERPINH1
FKBP10
SERPINF1
WNT1
TENT5A
BMP1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • 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
  • Osteogenesis imperfecta (18 genes) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    B3GALT6
    BMP1
    CREB3L1
    CRTAP
    FKBP10
    P3H1
    P4HB
    PLOD2
    PPIB
    SEC24D
    SERPINF1
    SERPINH1
    SP7
    SPARC
    TAPT1
    TMEM38B
    WNT1
    XYLT2
  • 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