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

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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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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