TRAPPC2 gene related symptoms and diseases
All the information presented here about the TRAPPC2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TRAPPC2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Osteoarthritis | Very Common - Between 80% and 100% cases |
| Scoliosis | Very Common - Between 80% and 100% cases |
| Hip osteoarthritis | Very Common - Between 80% and 100% cases |
| Hypoplastic iliac wing | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TRAPPC2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Barrel-shaped chest
- Spondyloepiphyseal dysplasia
- Coxa vara
- Disproportionate short stature
- Lumbar hyperlordosis
- Kyphosis
- Platyspondyly
- Arthritis
And 33 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TRAPPC2 gene
Here you will find a list of rare diseases related to the TRAPPC2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT
Alternate names
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT Is also known as spondyloepiphyseal dysplasia, late, sed tarda, x-linked
Most common symptoms of SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT
- Short stature
- Scoliosis
- Short neck
- Kyphosis
- Arthralgia
More info about SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT
SOURCES: OMIM
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA
Description
Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.
Most common symptoms of SPONDYLOEPIPHYSEAL DYSPLASIA TARDA
- Short stature
- Scoliosis
- Pain
- Abnormality of the skeletal system
- Short neck
More info about SPONDYLOEPIPHYSEAL DYSPLASIA TARDA
Search interest in TRAPPC2
Potential gene panels for TRAPPC2 gene
TRAPPC2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TRAPPC2 gene.
More info about this panel Spain.
SEDL. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TRAPPC2 gene.
More info about this panel Spain.
TRAPPC2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TRAPPC2 gene.
More info about this panel Spain.
Spondyloepiphyseal dysplasia tarda (sequence analysis of TRAPPC2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the TRAPPC2 gene.
More info about this panel Portugal.
Spondyloepiphyseal Dysplasia Tarda SEDL Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the TRAPPC2 gene.
More info about this panel India.
X-Linked Spondyloepiphyseal Dysplasia Tarda (SEDT) via TRAPPC2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the TRAPPC2 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.
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.
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.
Spondyloepiphyseal dysplasia tarda, X-linked Comprehensive test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the TRAPPC2 gene.
More info about this panel United States.
Spondyloepiphyseal dysplasia tarda, X-linked Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the TRAPPC2 gene.
More info about this panel United States.
Spondyloepiphyseal dysplasia tarda, X-linked Sequencing test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the TRAPPC2 gene.
More info about this panel United States.
Single gene testing TRAPPC2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the TRAPPC2 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.
Spondyloepiphyseal dysplasia tarda, X-Linked: TRAPPC2 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the TRAPPC2 gene.
More info about this panel Spain.
TRAPPC2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TRAPPC2 gene.
More info about this panel United States.
X-chromosome High Resolution microarray analysis Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
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.
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.
Spondyloepiphyseal dysplasia tarda Panel
Spain.
By Bioarray
This panel specifically test the TRAPPC2 gene.
More info about this panel Spain.
X-linked spondyloepiphyseal dysplasia congenita Panel
Spain.
By Bioarray
This panel specifically test the TRAPPC2 gene.
More info about this panel Spain.
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the TRAPPC2 gene.
More info about this panel Spain.
Spondyloepiphyseal Dysplasia Tarda, Sequencing TRAPPC2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the TRAPPC2 gene.
More info about this panel Spain.
Spondyloepiphyseal Dysplasia Tarda: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the TRAPPC2 gene.
More info about this panel Canada.
Spondyloepiphyseal Dysplasia Tarda: gene deletion/duplication Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the TRAPPC2 gene.
More info about this panel Canada.
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