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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