COL10A1 gene related symptoms and diseases
All the information presented here about the COL10A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to COL10A1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Moderately short stature | Very Common - Between 80% and 100% cases |
| Femoral bowing | Very Common - Between 80% and 100% cases |
| Irregular vertebral endplates | Very Common - Between 80% and 100% cases |
| Metaphyseal chondrodysplasia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with COL10A1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Spondylometaphyseal dysplasia
- Metaphyseal cupping
- Diaphyseal thickening
- Abnormality of bone mineral density
- Mild short stature
- Irregular acetabular roof
- Metaphyseal cupping of metacarpals
- Broad middle phalanx of finger
And 22 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to COL10A1 gene
Here you will find a list of rare diseases related to the COL10A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
Alternate names
METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE Is also known as spondylometaphyseal dysplasia, japanese type
Description
Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.
Most common symptoms of METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
- Short stature
- Hearing impairment
- Micrognathia
- Brachydactyly
- Frontal bossing
More info about METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
Search interest in COL10A1
Potential gene panels for COL10A1 gene
COL10A1 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the COL10A1 gene.
More info about this panel United States.
COL10A1 Sequence Analysis (Familial Mutation/Variant Analysis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the COL10A1 gene.
More info about this panel United States.
COL10A1 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the COL10A1 gene.
More info about this panel United States.
COL10A1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the COL10A1 gene.
More info about this panel Spain.
Metaphyseal chondrodysplasia, Schmid type (MCDS, sequence analysis of COL10A1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the COL10A1 gene.
More info about this panel Portugal.
Skeletal dysplasia (NGS panel for 31 genes) Panel
Portugal.
By CGC Genetics Skeletal dysplasia (NGS panel for 31 genes) that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 P3H1 SBDS SLC35D1 COL10A1
More info about this panel Portugal.
Metaphyseal Chondrodysplasia, Schmid Type (MCDS) via COL10A1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the COL10A1 gene.
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.
Skeletal dysplasia extended NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia extended NGS panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP
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.
Skeletal dysplasia core & extended Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core & extended Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panel United States.
Skeletal dysplasia extended Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia extended Comprehensive panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP
More info about this panel United States.
Skeletal dysplasia core & extended Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core & extended Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
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.
Skeletal dysplasia core & extended NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core & extended NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panel United States.
Skeletal dysplasia extended Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia extended Deletion / Duplication panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP
More info about this panel United States.
Metaphyseal chondrodysplasia, Schmid type Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL10A1 gene.
More info about this panel United States.
Metaphyseal chondrodysplasia, Schmid type Sequencing Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL10A1 gene.
More info about this panel United States.
Metaphyseal chondrodysplasia, Schmid type Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL10A1 gene.
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Metaphyseal Chondrodysplasia, Schmid Type Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the COL10A1 gene.
More info about this panel Germany.
Single gene testing COL10A1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the COL10A1 gene.
More info about this panel Germany.
Metaphyseal dysplasia Panel Panel
Germany.
By CeGaT GmbH Metaphyseal dysplasia Panel that also includes the following genes: RMRP RUNX2 SBDS COL10A1 FGFR3 MMP13 MMP9 PTH1R
More info about this panel Germany.
Metaphyseal Chondrodysplasia, Schmid Type, COL10A1 sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the COL10A1 gene.
More info about this panel United States.
Metaphyseal chondrodysplasia, Schmid type: COL10A1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the COL10A1 gene.
More info about this panel Spain.
Skeletal dysplasias Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Skeletal dysplasias that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CCN6 NSDHL TRPV4 SBDS EVC2 SLC35D1
More info about this panel Spain.
COL10A1 - Gene sequencing Panel
Netherlands.
By Genome Diagnostics VU University Medical Center
This panel specifically test the COL10A1 gene.
More info about this panel Netherlands.
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.
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.
COL10A1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the COL10A1 gene.
More info about this panel United States.
Metaphyseal Dysplasia Panel Panel
Finland.
By Blueprint Genetics Metaphyseal Dysplasia Panel that also includes the following genes: RMRP RUNX2 ANKH CDKN1C SBDS COL10A1 FGFR3 FLNA MMP13 MMP9
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.
Metaphyseal chondrodysplasia, Schmid type Panel
Spain.
By Bioarray
This panel specifically test the COL10A1 gene.
More info about this panel Spain.
METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the COL10A1 gene.
More info about this panel Spain.
SKELETAL DYSPLASIA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL SKELETAL DYSPLASIA NGS PANEL that also includes the following genes: SLC26A2 SOX9 TRIP11 TRPV4 EVC2 SLC35D1 COL10A1 COL11A1 COL11A2 COL1A2
More info about this panel Spain.
Metaphyseal Chondrodysplasia Schmid Type, Sequencing COL10A1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the COL10A1 gene.
More info about this panel Spain.
Metaphyseal Dysplasia Related Disorders , Panel Massive Sequencing (NGS) 5 Genes Panel
Spain.
By Reference Laboratory Genetics Metaphyseal Dysplasia Related Disorders , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: RMRP COL10A1 MMP13 MMP9 PTH1R
More info about this panel Spain.
Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes Panel
Spain.
By Reference Laboratory Genetics Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CCN6 NSDHL TRPV4 SBDS EVC2 SLC35D1
More info about this panel Spain.
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