Skip to main content

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
  1. Note. This table lists only the most frequent diseases associated with primary osteoporosis according to the recent literature.