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.
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
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
Search interest in DYM
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 United States.
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 Spain.
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 Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Germany.
Smith-McCort dysplasia Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the DYM gene.
More info about this panel Germany.
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 Germany.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
DYM Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DYM gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
Dubin-Johnson syndrome Panel
Spain.
By Bioarray
This panel specifically test the DYM gene.
More info about this panel Spain.
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 Spain.
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