Table 1 Causes of primacy osteoporosis in children and adolescents
From: The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment
Diseases | Genes |
|---|---|
Osteogenesis imperfecta | COL1A1; COL1A2; IFITM5; SERPINF1; CRTAP; LEPRE1; PPIB; FKBP10; BMP1; SP7; SERPINH1; WNT1; TMEM38B |
X-linked hypophoshatemic rickets | PHEX |
Homocystinuria | CBS |
Hypophosphatasia | ALPL |
Wilson’s disease | ATP7B |
Menkes’ kinky hair syndrome | ATP7A |
Osteoporosis-pseudoglioma syndrome | LRP5 |
Idiopathic juvenile osteoporosis | - |
Juvenile Paget’s disease | OPG |
Early-onset Paget’s disease | RANK |
Ehler–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 | - |
Cleidocranial dysostosis | RUNX2 |
Stuve-Wiedemann syndrome | LIFR |
Cole-Carpenter syndrome | - |
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; CLCN5 |
Hypocalcemic rickets | VDR; CYP2R1; CYP27B1 |