DYM gene related symptoms and diseases

All the information presented here about the DYM gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DYM gene

Symptoms // Phenotype % Cases
Short metacarpal Very Common - Between 80% and 100% cases
Barrel-shaped chest Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Scoliosis Very Common - Between 80% and 100% cases
Genu valgum Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DYM gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Platyspondyly
  • Prominent sternum
  • Hypoplasia of the odontoid process
  • Disproportionate short-trunk short stature
  • Atlantoaxial instability
  • Disproportionate short stature
  • Thickened calvaria
  • Thoracic kyphosis

And 81 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DYM gene

Here you will find a list of rare diseases related to the DYM. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DYGGVE-MELCHIOR-CLAUSEN DISEASE


Description

Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term).

Most common symptoms of DYGGVE-MELCHIOR-CLAUSEN DISEASE

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Short neck


More info about DYGGVE-MELCHIOR-CLAUSEN DISEASE

SOURCES: OMIM ORPHANET

DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC


Most common symptoms of DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


More info about DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC

SOURCES: OMIM

SMITH-MCCORT DYSPLASIA


Alternate names

SMITH-MCCORT DYSPLASIA Is also known as smc

Description

Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC; see this term), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.

Most common symptoms of SMITH-MCCORT DYSPLASIA

  • Microcephaly
  • Scoliosis
  • Kyphosis
  • Dolichocephaly
  • Platyspondyly


More info about SMITH-MCCORT DYSPLASIA

SOURCES: ORPHANET OMIM


Potential gene panels for DYM gene

Lysosomal Storage Disease Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 TCF4 MCOLN1 NPC2 ADAMTSL2 DNAJC5 SUMF1 TPP1

More info about this panel

DYM. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the DYM gene.

More info about this panel

Smith-McCort dysplasia (deletion/duplication analysis of DYM gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the DYM gene.

More info about this panel

Dyggve-Melchior-Clausen disease (deletion/duplication analysis of DYM gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the DYM gene.

More info about this panel

Smith-McCort dysplasia (deletion/duplication analysis of DYM gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the DYM gene.

More info about this panel

Dyggve-Melchior-Clausen disease (deletion/duplication analysis of DYM gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the DYM gene.

More info about this panel

Congenital Limb Malformation Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Limb Malformation Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B SF3B4 FBXW4 SHH BRCA2 SOX9 TBX15

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

Dyggve-Melchior-Clausen disease Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Dyggve-Melchior-Clausen disease Deletion / Duplication panel that also includes the following genes: RAB33B DYM

More info about this panel

Dyggve-Melchior-Clausen disease Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Dyggve-Melchior-Clausen disease Comprehensive panel that also includes the following genes: RAB33B DYM

More info about this panel

Dyggve-Melchior-Clausen disease NGS panel Panel

United States.

By Connective Tissue Gene Tests Dyggve-Melchior-Clausen disease NGS panel that also includes the following genes: RAB33B DYM

More info about this panel

Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

More info about this panel

Smith-McCort dysplasia Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Smith-McCort dysplasia Comprehensive panel that also includes the following genes: RAB33B DYM

More info about this panel

Smith-McCort dysplasia NGS panel Panel

United States.

By Connective Tissue Gene Tests Smith-McCort dysplasia NGS panel that also includes the following genes: RAB33B DYM

More info about this panel

Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

More info about this panel

Spondylo-Epi-Metaphyseal dysplasias NGS panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias NGS panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

More info about this panel

Smith-McCort dysplasia Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Smith-McCort dysplasia Deletion / Duplication panel that also includes the following genes: RAB33B DYM

More info about this panel

Dyggve-Melchior-Clausen disease Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the DYM gene.

More info about this panel

Smith-McCort dysplasia Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the DYM gene.

More info about this panel

Dyggve-Melchior-Clausen disease Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the DYM gene.

More info about this panel

Smith-McCort dysplasia NGS Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the DYM gene.

More info about this panel

Dyggve-Melchior-Clausen disease NGS Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the DYM gene.

More info about this panel

Smith-McCort dysplasia Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the DYM gene.

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Dyggve-Melchior-Clausen disease Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DYM gene.

More info about this panel

Smith-McCort dysplasia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DYM gene.

More info about this panel

Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel Panel

Germany.

By CeGaT GmbH Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel that also includes the following genes: RMRP SMARCAL1 ACP5 CCN6 XYLT1 RAB33B B3GALT6 TRPV4 CHST3 CANT1

More info about this panel

Disproportionate Short Stature: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11

More info about this panel

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel

Disproportionate Short Stature: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Deletion/Duplication Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TRIP11 TRPS1

More info about this panel

Lysosomal Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2

More info about this panel

Skeletal Dysplasias NGS panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1

More info about this panel

DYM Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DYM gene.

More info about this panel

Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel Panel

Finland.

By Blueprint Genetics Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel that also includes the following genes: RMRP BGN SMARCAL1 ACP5 CCN6 RAB33B B3GALT6 TRPV4 CHST3 CANT1

More info about this panel

Lysosomal Disorders and Mucopolysaccharidosis Panel Panel

Finland.

By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Peroxisomal Disorders Panel Panel

Finland.

By Blueprint Genetics Peroxisomal Disorders Panel that also includes the following genes: ACOX1 SUGCT DYM PEX26 EBP AGPS AGXT GNPAT AMACR HSD17B4

More info about this panel

Skeletal Dysplasias Core Panel Panel

Finland.

By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

Dubin-Johnson syndrome Panel

Spain.

By Bioarray

This panel specifically test the DYM gene.

More info about this panel

Dyggve-Melchior-Clausen Syndrome , Sequencing DYM Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the DYM gene.

More info about this panel


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