Table 2 Classification of Osteogenesis Imperfecta According to the 2023 Skeletal Dysplasia Nosology [8]
OI Type | Inheritance | Previous classification | Current classification (2023 Skeletal dysplasia nosology) [8] | Gene | 2023 Skeletal dysplasia nosology code [8] | OMIM condition [12] |
|---|---|---|---|---|---|---|
Defects in collagen synthesis, structure, or processing | ||||||
I | AD | Mild | Non-deforming | COL1A1 | NOS26-0010 | 166200 |
Non-deforming | COL1A2 | NOS26-0020 | 166200 | |||
II | AD | Lethal | Severe perinatal | COL1A1 | NOS26-0030 | 166210 |
Severe perinatal | COL1A2 | NOS26-0040 | 166210 | |||
III | AD | Progressive Deforming | Progressively deforming | COL1A1 | NOS26-0080 | 259420 |
Progressively deforming | COL1A2 | NOS26-0090 | 259420 | |||
IV | AD | Moderate | Moderate | COL1A1 | NOS26-0270 | 166220 |
Moderate | COL1A2 | NOS26-0280 | 166220 | |||
XIII | AR | Mild/Severe | Progressively deforming | BMP1 | NOS26-0180 | 614856 |
Defects in bone mineralization | ||||||
V | AR | Variable, Distinctive Histology | Progressively deforming | IFITM5 | NOS26-0100 | 610967 |
Moderate | IFITM5 | NOS26-0300 | 166220 | |||
OI With calcification of interosseous membranes and/or hypertrophic callus | IFITM5 | NOS26-0350 | 610967 | |||
VI | AR | Moderate/Severe | Progressively deforming | SERPINF1 | NOS26-0110 | 613982 |
Defects in collagen modification | ||||||
VII | AR | Lethal (Null)/ Severe/ Severe (Hypomorphic) | Severe perinatal | CRTAP | NOS26-0050 | 610682 |
Progressively deforming | CRTAP | NOS26-0120 | 610682 | |||
Moderate | CRTAP | NOS26-0310 | 610682 | |||
VIII | AR | Lethal | Severe perinatal | P3H1 (LEPRE1) | NOS26-0060 | 610915 |
Severe | Progressively deforming | P3H1 (LEPRE1) | NOS26-0130 | 610915 | ||
IX | AR | Lethal | Severe perinatal | PPIB | NOS26-0070 | 259440 |
Progressively deforming | PPIB | NOS26-0140 | 259440 | |||
Moderate | Moderate | PPIB | NOS26-0320 | 259440 | ||
XIV | AR | Severe | Progressively deforming | TMEM38B | NOS26-0170 | 615066 |
Defects in collagen folding and cross-linking | ||||||
X | AR | Severe/Lethal | Progressively deforming | SERPINH1 | NOS26-0150 | 613848 |
XI / BRKS1 | AR | Severe | Progressively deforming | FKBP10 | NOS26-0160 | 610968 |
Mild | Moderate | FKBP10 | NOS26-0330 | 610968 | ||
Bruck syndrome type 1 | Bruck syndrome type 1 | FKBP10 | NOS26-0430 | 259450 | ||
BRKS2 | AR | Bruck syndrome type 2 | Bruck syndrome type 2 | PLOD2 | NOS26-0440 | 609220 |
Defects in osteoblast development with collagen insufficiency | ||||||
XII | AR | Severe | Moderate | SP7 | NOS26-0340 | 613849 |
XV | AR | Severe | Progressively deforming | WNT1 | NOS26-0190 | 615220 |
Moderate | WNT1 | NOS26-0290 | 166220 | |||
XVI | AR | Severe | Progressively deforming | CREB3L1 | NOS26-0200 | 616229 |
XVII | AR | Progressive Severe | Progressively deforming | SPARC | NOS26-0210 | 616507 |
XVIII | XLR | Moderate/Severe | Progressively deforming | MBTPS2 | NOS26-0230 | 301014 |
XIX | AR | Severe | Progressively deforming | FAM46A/ TENT5A | NOS26-0220 | 617952 |
XX | AR | Progressive Severe/Lethal | Progressively deforming | MESD | NOS26-0240 | 618644 |
XXI | AR | Severe + Neurodevelopmental | Progressively deforming with neurodevelopmental features | KDELR2 | NOS26-0250 | 619131 |
XXII | AR | Severe | Progressively deforming | CCDC134 | NOS26-0260 | 619795 |
Other bone fragility disorders | ||||||
AD | OI with craniosynostosis (Cole Carpenter syndrome) | P4HB | NOS26-0360 | 112240 | ||
AR | OI with craniosynostosis (Cole Carpenter syndrome) | SEC24D | NOS26-0370 | 616294 | ||
XL | Osteoporosis X-linked form | PLS3 | NOS26-0380 | 300910 | ||
XL | Osteoporosis X-linked form | MBTPS2 | NOS26-0390 | 301014 | ||
AD | Osteoporosis - dominant form | WNT1 | NOS26-0400 | 615220 | ||
AD | Osteoporosis - dominant form | LRP5 | NOS26-0410 | 166710, 601884 | ||
AD | Osteoporosis - dominant form | ARHGAP25 | NOS26-0420 | 610587 | ||
AR | Osteoporosis-pseudoglioma syndrome | LRP5 | NOS26-0450 | 259770 | ||
AD | Bone fragility with calvarial “doughnut” lesions | SGMS2 | NOS26-0460 | 126550 | ||