Pseudoachondroplasia

Incidence and onset information

Alternative names

Pseudoachondroplasia Is also known as pseudoachondroplastic dysplasia, pseudoachondroplastic spondyloepiphyseal dysplasia.

Researches and researchers

Doctors, researchs, and experts related to Pseudoachondroplasia extracted from public data.

Pseudoachondroplasia Experts map

Current Researchs and researchers

• BRUSSELS — Pr Olivier DEVUYST

  Clinical expert - Investigator of research project - Manager of registry - Coordinator of research network
  
  

  • Institution/s:
    — Service de néphrologie, Cliniques Universitaires UCL Saint-Luc
    — Université Catholique de Louvain - UCL
    — Département de Médecine, Centre Hospitalier Universitaire Vaudois CHUV
    — Universität Zürich
  • Research area/topic::
    

    EUROGROW: Pathophysiology of various osteochondrodysplasias by studying the cartilage growth plate in transgenic mice models



• BRUXELLES — Pr Olivier DEVUYST

  Clinical expert - Investigator of research project - Manager of registry - Coordinator of research network
  
  

  • Institution/s:
    — Service de néphrologie, Cliniques Universitaires UCL Saint-Luc
    — Université Catholique de Louvain - UCL
    — Département de Médecine, Centre Hospitalier Universitaire Vaudois CHUV
    — Universität Zürich
  • Research area/topic::
    

    EUROGROW: Pathophysiology of various osteochondrodysplasias by studying the cartilage growth plate in transgenic mice models



• LAUSANNE — Pr Olivier DEVUYST

  Clinical expert - Investigator of research project - Manager of registry - Coordinator of research network
  
  

  • Institution/s:
    — Service de néphrologie, Cliniques Universitaires UCL Saint-Luc
    — Université Catholique de Louvain - UCL
    — Département de Médecine, Centre Hospitalier Universitaire Vaudois CHUV
    — Universität Zürich
  • Research area/topic::
    

    EUROGROW: Pathophysiology of various osteochondrodysplasias by studying the cartilage growth plate in transgenic mice models



• ZÜRICH — Pr Olivier DEVUYST

  Clinical expert - Investigator of research project - Manager of registry - Coordinator of research network
  
  

  • Institution/s:
    — Service de néphrologie, Cliniques Universitaires UCL Saint-Luc
    — Université Catholique de Louvain - UCL
    — Département de Médecine, Centre Hospitalier Universitaire Vaudois CHUV
    — Universität Zürich
  • Research area/topic::
    

    EUROGROW: Pathophysiology of various osteochondrodysplasias by studying the cartilage growth plate in transgenic mice models



• MANCHESTER — Pr Michael BRIGGS

  Investigator of research project - Coordinator of research network
  
  

  • Institution/s:
    — Faculty of of Life Sciences - University of Manchester
    — Newcastle University, Newcastle upon Tyne Hospitals NHS Trust
  • Research area/topic::
    

    SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases - UK



• NEWCASTLE UPON TYNE — Pr Michael BRIGGS

  Investigator of research project - Coordinator of research network
  
  

  • Institution/s:
    — Faculty of of Life Sciences - University of Manchester
    — Newcastle University, Newcastle upon Tyne Hospitals NHS Trust
  • Research area/topic::
    

    SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases - UK

Pseudoachondroplasia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Skeletal Dysplasia Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SLC26A2, SOX9, TRPV4, COL1A2, COMP, FGFR3, FLNA, HSPG2 Specificity 13 % Genes 100 %
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics (United States). RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...) View the complete list with 17 more genes Panel complete gene list RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP, AGPS, EVC, FGFR1, FGFR2, FGFR3, FLNA, FLNB, ALPL, GNPAT, HSPG2, LBR, LIFR, ARSE, NEK1, PEX7, POR, PPIB Close Specificity 3 % Genes 100 %
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal. By ARUP Laboratories, Molecular Genetics and Genomics (United States). RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...) View the complete list with 17 more genes Panel complete gene list RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP, AGPS, EVC, FGFR1, FGFR2, FGFR3, FLNA, FLNB, ALPL, GNPAT, HSPG2, LBR, LIFR, ARSE, NEK1, PEX7, POR, PPIB Close Specificity 3 % Genes 100 %
COMP. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). COMP Specificity 100 % Genes 100 %
FGFR2, COMP, COL11A1, COL11A2, EVC, TRIP11, EVC2. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). TRIP11, EVC2, COL11A1, COL11A2, COMP, EVC, FGFR2 Specificity 15 % Genes 100 %
COMP. Sequencing of the exons 8-19. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). COMP Specificity 100 % Genes 100 %
COMP. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). COMP Specificity 100 % Genes 100 %
Pseudoachondroplasia (sequence analysis of COMP gene). By CGC Genetics (Portugal). COMP Specificity 100 % Genes 100 %

Sources and references

You can check the following sources for additional information.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEUROFIBROMATOSIS-NOONAN SYNDROME BARDET-BIEDL SYNDROME 21; BBS21 IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY