Multiple Osteochondromas

Incidence and onset information

Alternative names

Multiple Osteochondromas Is also known as multiple cartilaginous exostoses, bessel-hagen disease.

Researches and researchers

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

Multiple Osteochondromas Experts map

Current Researchs and researchers

• ANTWERPEN-EDEGEM — Pr Wim WUYTS

  Responsible for diagnostic tests - Investigator of research project - Director of laboratory
  
  

  • Institution/s:
    — Center of Medical Genetics, Centrum Medische Genetica - UZA
    — Center of Medical Genetics, Centrum Medische Genetica - UZA
  • Research area/topic::
    

    Identification of molecular therapeutic targets and diagnostic/prognostic biomarkers of malignant transformation of osteochondromas.



• BOLOGNA — Dr Luca SANGIORGI

  Coordinator of expert centre - Responsible for diagnostic tests - Investigator of research project - Manager of registry - Manager of biobank/collection - Coordinator of expert centre network - Director of laboratory
  
  

  • Institution/s:
    — Dipartimento Patologie Ortopediche-Traumatologiche Specialistiche, Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
    — Dipartimento di Patologie Ortopediche-Traumatologiche Specialistiche, Istituto Ortopedico Rizzoli - Ospedale
  • Research area/topic::
    

    Evaluation of genotype-phenotype correlation in patients with hereditary multiple exostoses and definition of a diagnostic and clinical course

Multiple Osteochondromas Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Multiple Osteochrondomas-HMO. By Genetics Laboratory Shodair Children's Hospital (United States). EXT1 Specificity 100 % Genes 50 %
EXT1 Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). EXT1 Specificity 100 % Genes 50 %
EXT1 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). EXT1 Specificity 100 % Genes 50 %
EXT1. By Department of Medical Genetics - Wuyts Lab Antwerp University Hospital (Belgium). EXT1 Specificity 100 % Genes 50 %
EXT1. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). EXT1 Specificity 100 % Genes 50 %
EXT1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). EXT1 Specificity 100 % Genes 50 %
CHOP Comprehensive Hereditary Cancer Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). RMRP, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, SH2D1A, SLC25A13, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, BUB1B, EPCAM, XPA, IKZF1, CBL , (...) View the complete list with 85 more genes Panel complete gene list RMRP, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, SH2D1A, SLC25A13, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, BUB1B, EPCAM, XPA, IKZF1, CBL, CDC73, HAX1, DICER1, ARID5B, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEBPE, DDX41, DOCK8, SBDS, BRIP1, RHBDF2, COL7A1, G6PC3, CYLD, SDHAF2, PALB2, DDB2, FLCN, DIS3L2, DKC1, EGFR, ELANE, ERCC2, ERCC3, ERCC4, ERCC5, ETV6, EXT1, EXT2, FAH, FANCA, FANCC, FANCG, FH, GATA2, GBA, ABCB11, ALK, GJB2, GPC3, HFE, HMBS, HRAS, APC, ITK, KIT, SMAD4, MAX, MEN1, MET, MLH1, MPL, MSH2, MSH6, MTAP, MUTYH, NBN, NF1, NF2, ATM, PAX5, PDGFRA, SERPINA1, AXIN2, PMS2, PHOX2B, POLD1, POLE, POLH, PRKAR1A, PRSS1, BAP1, PTCH1, PTEN, PTPN11, RAD51C, RAD51D, RB1, RECQL4, RET Close Specificity 2 % Genes 100 %
Trichorhinophalangeal Syndrome Type II [Langer-Giedion Syndrome]. By CGC Genetics (Portugal). TRPS1, EXT1 Specificity 50 % Genes 50 %

Sources and references

You can check the following sources for additional information.

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