Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2; Phoar2

Description

Primary hypertrophic osteoarthropathy (PHO), which is also known as pachydermoperiostosis, is a rare genetic disease that affects the skin and bones. PHO is characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and skin manifestations that include thickened facial skin, a thickened scalp, and coarse facial features (summary by Zhang et al., 2012).For a discussion of genetic heterogeneity of PHO, see PHOAR1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2; Phoar2

  • Abnormal facial shape
  • Patent ductus arteriosus
  • Hyperhidrosis
  • Arthralgia
  • Coarse facial features
  • Thickened skin
  • Redundant skin
  • Clubbing
  • Large hands
  • Hyperostosis

And another 7 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.

Alternative names

Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2; Phoar2 Is also known as pachydermoperiostosis, autosomal recessive, pdp, autosomal recessive.

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.

Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2; Phoar2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypertrophic osteoarthropathy, primary 2 AR (sequence analysis of SLCO2A1 gene).

By CGC Genetics (Portugal).

SLCO2A1
Specificity
100 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)

View the complete list with 236 more genes
Specificity
1 %
Genes
100 %
Dense bone dysplasia NGS panel.

By Connective Tissue Gene Tests (United States).

SLCO2A1, TBXAS1, TGFB1, TNFRSF11B, TYROBP, SOST, ANKH, DLX3, GJA1, HPGD, LRP4, MTAP, PTDSS1
Specificity
8 %
Genes
100 %
Dense bone dysplasia Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SLCO2A1, TBXAS1, TGFB1, TNFRSF11B, TYROBP, SOST, ANKH, DLX3, GJA1, HPGD, LRP4, MTAP, PTDSS1
Specificity
8 %
Genes
100 %
Dense bone dysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

SLCO2A1, TBXAS1, TGFB1, TNFRSF11B, TYROBP, SOST, ANKH, DLX3, GJA1, HPGD, LRP4, MTAP, PTDSS1
Specificity
8 %
Genes
100 %
Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

SLCO2A1, TBXAS1, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TNFSF11, TYROBP, CA2, SOST, SNX10, ANKH, CLCN7, OSTM1, FAM20C, FERMT3, CTSK, AMER1, LEMD3, PLEKHM1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Osteopetrosis and Dense bone dysplasia NGS panel.

By Connective Tissue Gene Tests (United States).

SLCO2A1, TBXAS1, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TNFSF11, TYROBP, CA2, SOST, SNX10, ANKH, CLCN7, OSTM1, FAM20C, FERMT3, CTSK, AMER1, LEMD3, PLEKHM1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Osteopetrosis and Dense bone dysplasia Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SLCO2A1, TBXAS1, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TNFSF11, TYROBP, CA2, SOST, SNX10, ANKH, CLCN7, OSTM1, FAM20C, FERMT3, CTSK, AMER1, LEMD3, PLEKHM1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %

You can get up to 7 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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