Table 1 Major monogenic high and low bone mass syndromes
From: Genetic studies in osteoporosis – the end of the beginning
Gene | Encoded protein | Bone disorder | OMIM ref. |
|---|---|---|---|
COL1A1 | Col1a1 chain of type 1 collagen | Osteogenesis imperfecta | 166200 |
COL1A2 | Col1a2 chain of type 1 collagen | Osteogenesis imperfecta | 120160 |
CRTAP | Cartilage associated protein | Osteogenesis imperfecta type VII | 605497 |
LEPRE1 | Prolyl 3-hydroxylase | Osteogenesis imperfecta type VIII | 610339 |
PLOD2 | Lysyl hydroxylase-2 | Bruck syndrome (osteogenesis imperfecta with joint contractures) type 2 | 601865 |
CA2 | carbonic anhydrase II | Osteopetrosis (autosomal recessive) | 611492 |
TCIRG1 | Vacuolar proton pump | Osteopetrosis (autosomal recessive) | 604592 |
CLCN7 | Chloride channel 7 | Osteopetrosis (both autosomal recessive and autosomal dominant forms) | 602727 |
OSTM1 | Osteopetrosis-related transmembrane protein 1 | Osteopetrosis (autosomal recessive) | 607649 |
LRP5 | Low density lipoprotein-receptor related protein 5 | Osteoporosis-pseudoglioma syndrome | 603506 |
LRP5 | Low density lipoprotein-receptor related protein 5 | High bone mass syndrome | |
SOST | Inhibitor of Wnt signalling to osteoblasts | von Buchem disease and sclerosteosteosis | 605740 |
OPG (TNFRSF11B) | Osteoprotegerin | Juvenile Paget's disease (hereditary hyperphosphatasia) | 602643 |
RANK (TNFRSF11A) | RANK | Familial expansile osteolysis | 603499 |
ALPL | Tissue-nonspecific (bone/liver/kidney) alkaline phosphatase | Hypophosphatasia | 171760 |
CASR | Calcium-sensing receptor | Neonatal hyperparathyroidism | 601199 |
CTSK | Cathepsin K | Pyknodysostosis | 601105 |