DDR2 gene related symptoms and diseases
All the information presented here about the DDR2 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 DDR2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Flared iliac wings | Very Common - Between 80% and 100% cases |
| Bowing of the legs | Very Common - Between 80% and 100% cases |
| Flared metaphysis | Very Common - Between 80% and 100% cases |
| Thoracic hypoplasia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with DDR2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Restrictive ventilatory defect
- Hypoplasia of the odontoid process
- Syringomyelia
- Epiphyseal stippling
- Bell-shaped thorax
- Spinal cord compression
- Abnormality of the neck
- Spondyloepimetaphyseal dysplasia
And 44 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DDR2 gene
Here you will find a list of rare diseases related to the DDR2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT LIMB-ABNORMAL CALCIFICATION SYNDROME
Alternate names
SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT LIMB-ABNORMAL CALCIFICATION SYNDROME Is also known as smed, short limb-hand type, smed, type ii, smed-sl, smed, short limb-abnormal calcification type, smed-sl/ac, spondylometaepiphyseal dysplasia, short limb-abnormal calcification type
Description
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.
Most common symptoms of SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT LIMB-ABNORMAL CALCIFICATION SYNDROME
- Global developmental delay
- Short stature
- Generalized hypotonia
- Scoliosis
- Hypertelorism
More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT LIMB-ABNORMAL CALCIFICATION SYNDROME
Search interest in DDR2
Potential gene panels for DDR2 gene
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification (sequence analysis of DDR2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the DDR2 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.
Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Hand Type (SMED-SL) via DDR2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the DDR2 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.
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.
Cancer Hotspot Panel Panel
Germany.
By Centogene AG - the Rare Disease Company Cancer Hotspot Panel that also includes the following genes: BCL6 ROS1 BRAF BRCA1 BRCA2 SMARCB1 SMO SRC STK11 HNF1A
More info about this panel Germany.
Solid Tumor Panel Panel
Germany.
By Centogene AG - the Rare Disease Company Solid Tumor Panel that also includes the following genes: ROS1 BRAF SMARCA4 SMARCB1 ARID1A SMO STK11 TP53 TSC1 KDM6A
More info about this panel Germany.
Spondylometaepiphyseal dysplasia, short limb-hand type Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the DDR2 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.
Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel Panel
Germany.
By CeGaT GmbH Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel that also includes the following genes: ROR2 TRPS1 WNT5A IFT122 ADAMTSL2 DDR2 IFT140 WDR35 ZSWIM6 IFT43
More info about this panel Germany.
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.
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.
DDR2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DDR2 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.
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.
Focus::Oncomine™ NGS Panel Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Oncomine™ NGS Panel that also includes the following genes: ROS1 BRAF SMO CDK4 CTNNB1 DDR2 EGFR ERBB2 ERBB3 ERBB4
More info about this panel United States.
Solid Tumor Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Solid Tumor Gene Set that also includes the following genes: RIT1 ROS1 RXRA FOXL2 BRAF BRCA1 BRCA2 SMARCA4 SMARCB1 KDM5C
More info about this panel United States.
Thoracic Tumors Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Thoracic Tumors Gene Set that also includes the following genes: RIT1 ROS1 BRAF SMARCA4 STK11 MED12 TP53 TSC1 TSC2 KMT2C
More info about this panel United States.
FoundationOne® Heme Panel
United States.
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panel United States.
Guardant360 Panel
United States.
By Guardant Health Guardant360 that also includes the following genes: RHEB RIT1 ROS1 BRAF BRCA1 BRCA2 ARID1A SMO STK11 HNF1A
More info about this panel United States.
Comprehensive Panel for Individualized Cancer Threatment Panel
Greece.
By GeneKor MSA Comprehensive Panel for Individualized Cancer Threatment that also includes the following genes: ROS1 BRAF SMARCB1 SMO SRC HNF1A TP53 VHL FBXW7 CDH1
More info about this panel Greece.
NeoTYPE® Discovery Profile for Solid Tumors Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
More info about this panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel United States.
OmniSeq Comprehensive Panel
United States.
By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1
More info about this panel United States.
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.
Solid Tumor Targeted Mutation and Fusion Panel Panel
United States.
By Providence Regional Laboratories Providence Health and Services Solid Tumor Targeted Mutation and Fusion Panel that also includes the following genes: ROS1 BRAF SMO CCND1 CDK4 CDK6 CTNNB1 DDR2 EGFR ERBB2
More info about this panel United States.
Providence Personalized Medicine Panel - Solid Tumor Panel
United States.
By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2
More info about this panel United States.
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.
152 Integrated Advantage NGS Solid Tumor Panel Panel
United States.
By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC
More info about this panel United States.
Tempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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