Table 1. Causes of primacy osteoporosis in children and adolescents.
| Disease | Gene |
|---|---|
| Osteogenesis imperfecta | COL1A1; COL1A2; IFITM5; SERPINF1; CRTAP; LEPRE1; PPIB; FKBP10; BMP1; SP7; SERPINH1; WNT1; TMEM38B; SPARC |
| X-linked hypophoshatemic rickets | PHEX; CLCN5 |
| Homocystinuria | CBS; MTHFR |
| Hypophosphatasia | ALPL |
| Wilson disease | ATP7B |
| Menkes’ kinky hair syndrome | ATP7A |
| Osteoporosis-pseudoglioma syndrome | LRP5 |
| Idiopathic juvenile osteoporosis | - |
| Juvenile Paget disease | OPG |
| Early-onset Paget disease | RANK |
| Ehlers-Danlos syndrome | COL5A2; COL5A1; COL1A1; COL3A1; PLOD1; COL1A2; ADAMTS2; COL3A1; TNXB |
| Bruck syndrome | FKBP10; PLOD2 |
| Marfan syndrome | FBN1 |
| Hypophosphatemic nephrolithiasis/osteoporosis | SLC34A1; NPHLOP2 |
| Hajdu-Cheney syndrome | NOTCH2 |
| Torg-Winchester syndrome | MMP2 |
| Shwachman-Diamond syndrome | SBDS |
| Singleton-Merten syndrome | IFIH1; DDX58 |
| Schwartz-Jampel Syndrome | HSPG2 |
| Cerebrooculofacioskeletal syndrome 1 | ERCC6 |
| Cleidocranial dysostosis | RUNX2 |
| Stuve-Wiedemann syndrome | LIFR |
| Cole-Carpenter syndrome | P4HB; SEC24D |
| Geroderma osteodysplasticum | GORAB |
| Noonan syndrome | PTPN11; SHOC2; KRAS; SOS1; RAF1; NRAS; BRAF; RIT1 |
| Neonatal hyperparathyroidism | CASR |
| Other forms of hypophosphatemic rickets | SLC34A3; FGF23; DMP1; ENPP1 |
| Hypocalcemic rickets | VDR; CYP2R1; CYP27B1 |
| Turner syndrome | - |
| Klinefelter syndrome | - |
| Down syndrome | - |
| Williams-Beuren syndrome | - |
This table lists only the most frequent diseases associated with primary osteoporosis according to the recent literature.
Modified from Stagi S, et al. Ital J Pediatr 2014;40:55.10)