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.

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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

SOURCES: OMIM ORPHANET


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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Single gene testing COL10A1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the COL10A1 gene.

More info about this panel

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

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

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

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

COL10A1 - Gene sequencing Panel

Netherlands.

By Genome Diagnostics VU University Medical Center

This panel specifically test the COL10A1 gene.

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

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

COL10A1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the COL10A1 gene.

More info about this panel

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

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

Metaphyseal chondrodysplasia, Schmid type Panel

Spain.

By Bioarray

This panel specifically test the COL10A1 gene.

More info about this panel

METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the COL10A1 gene.

More info about this panel

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

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

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

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


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