Paget Disease Of Bone 6; Pdb6

Description

Paget disease of bone-6 is an autosomal dominant disorder characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton. A subset of patients can develop coronary artery disease and/or malignant giant cell tumor (GCT) of the bone, which arises within the Paget bone lesions (summary by Divisato et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Paget disease of bone, see {167250}.

Clinical Features

Top most frequent phenotypes and symptoms related to Paget Disease Of Bone 6; Pdb6

  • Hearing impairment
  • Neoplasm
  • Pain
  • Hypertension
  • Recurrent fractures
  • Myocardial infarction
  • Osteoarthritis
  • Left ventricular hypertrophy
  • Nephrolithiasis
  • Bone pain

And another 3 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

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Paget Disease Of Bone 6; Pdb6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Paget disease of bone and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SQSTM1, TNFRSF11A, TNFRSF11B, VCP, ZNF687, HNRNPA1, HNRNPA2B1
Specificity
15 %
Genes
100 %
Paget disease of bone and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

SQSTM1, TNFRSF11A, TNFRSF11B, VCP, ZNF687, HNRNPA1, HNRNPA2B1
Specificity
15 %
Genes
100 %
Paget disease of bone and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

SQSTM1, TNFRSF11A, TNFRSF11B, VCP, ZNF687, HNRNPA1, HNRNPA2B1
Specificity
15 %
Genes
100 %
ZNF687.

By Fulgent Genetics Fulgent Genetics (United States).

ZNF687
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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