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Condition report · Musculoskeletal
Inherited forms of Paget disease of bone, in which abnormal bone remodelling leads to enlarged, weakened bones, bone pain and deformity.
A condition report looks for rare variants known to cause the conditions it covers.
Autosomal dominant
Adult-onset Paget disease of bone caused by SQSTM1 variants, the most common genetic cause of familial Paget disease.
What a diagnosis changes
Paget disease usually responds well to bisphosphonate treatment, and relatives can be checked for early signs.
Genes analysed
Also known as
familial Paget disease of bone; Paget disease of bone type 3; PDB3
Autosomal dominant
A form of Paget disease with onset in early adulthood, often with hearing loss and early tooth loss, caused by TNFRSF11A variants.
Genes analysed
Also known as
PDB2
Autosomal dominant
A form of Paget disease of bone caused by ZNF687 variants, which can be severe and has been linked to giant cell tumours of bone.
Genes analysed
Also known as
Paget disease of bone 6; PDB6; Paget disease of bone type 6; PDB6
Autosomal recessive
A rare childhood-onset bone disorder caused by TNFRSF11B variants, with rapid bone turnover, bone pain, fractures and deformity.
Genes analysed
Also known as
familial hyperphosphatasia; familial osteoectasia; Hereditary Hyperphosphatasia; hyperostosid corticalis deformans juvenilis; hyperostosis corticalis deformans juvenilis; JPD; JPG; juvenile Paget's disease; Paget disease juvenile type; Paget disease of bone 5, juvenile-onset; PDB5
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