Enchondromatosis

Description

Enchondromatosis is a rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.

Clinical Features

Top most frequent phenotypes and symptoms related to Enchondromatosis

  • Neoplasm
  • Anemia
  • Joint stiffness
  • Platyspondyly
  • Micromelia
  • Abnormality of the metaphysis
  • Subcutaneous nodule
  • Bone pain
  • Skin ulcer
  • Osteolysis

And another 10 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available ENCHONDROMATOSIS have a estimated prevalence of 1 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Enchondromatosis Is also known as dyschondroplasia, ollier disease.

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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Enchondromatosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
34 %
MyeloidDx by NGS.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States).

RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA , (...)

View the complete list with 32 more genes
Specificity
4 %
Genes
67 %
MyeloidDx by NGS.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States).

RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, CDKN2A, PHF6, CEBPA , (...)

View the complete list with 31 more genes
Specificity
4 %
Genes
67 %
Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago (United States).

RPS6KA3, CLIP1, SCN2A, ST3GAL3, SLC16A2, SLC25A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX11, CDKL5, STXBP1, SYN1, SYNGAP1, SYP , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
34 %
Autosomal Recessive Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago (United States).

ST3GAL3, SLC25A1, STXBP1, VLDLR, ERLIN2, CA8, CNTNAP2, ARFGEF2, PCNT, L2HGDH, ZC3H14, VPS13B, ALG6, MED23, NSUN2, D2HGDH, DDHD2, ZNF526, C12orf57, CRBN , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
34 %
D-2-hydroxyglutaric Aciduria Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

D2HGDH, IDH2
Specificity
50 %
Genes
34 %
D-2-Hydroxyglutaric Aciduria Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

D2HGDH, IDH2
Specificity
50 %
Genes
34 %
D-2 and L-2 Hydroxyglutaric Aciduria Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

SLC25A1, L2HGDH, D2HGDH, IDH2
Specificity
25 %
Genes
34 %

We have 143 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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