Table 1 |
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Major monogenic high and low bone mass syndromes |
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Gene |
Encoded protein |
Bone disorder |
OMIM ref. |
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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 |
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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 |
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CASR |
Calcium-sensing receptor |
Neonatal hyperparathyroidism |
601199 |
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CTSK |
Cathepsin K |
Pyknodysostosis |
601105 |
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Duncan and Brown Arthritis Research & Therapy 2008 10:214 doi:10.1186/ar2479 |
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