Table 1

Major monogenic high and low bone mass syndromes

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


Duncan and Brown Arthritis Research & Therapy 2008 10:214   doi:10.1186/ar2479