Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1; Phoar1

Description

Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic HeterogeneityPHOAR2 (OMIM ) is caused by mutation in the SLCO2A1 gene (OMIM ) on chromosome 3q22.1-q22.2.Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD ).

Clinical Features

Top most frequent phenotypes and symptoms related to Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1; Phoar1

  • Growth delay
  • Neoplasm
  • Cleft palate
  • Pain
  • Ptosis
  • Flexion contracture
  • High palate
  • Pectus excavatum
  • Patent ductus arteriosus
  • Abnormal heart morphology

And another 34 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, 1; Phoar1 Is also known as pho, autosomal recessive, pachydermoperiostosis, autosomal recessive, pdp, autosomal recessive, touraine-solente-gole syndrome.

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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Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1; Phoar1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HPGD. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

HPGD
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 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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