HSPG2 gene related symptoms and diseases
All the information presented here about the HSPG2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HSPG2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Flat face | Very Common - Between 80% and 100% cases |
| Inguinal hernia | Very Common - Between 80% and 100% cases |
| Talipes equinovarus | Very Common - Between 80% and 100% cases |
| Umbilical hernia | Very Common - Between 80% and 100% cases |
| Micrognathia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with HSPG2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Bowing of the long bones
- Narrow mouth
- EMG abnormality
- Abnormality of the metaphysis
- Decreased testicular size
- Intellectual disability
- Full cheeks
- Long eyelashes in irregular rows
And 156 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HSPG2 gene
Here you will find a list of rare diseases related to the HSPG2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SCHWARTZ-JAMPEL SYNDROME
Alternate names
SCHWARTZ-JAMPEL SYNDROME Is also known as myotonic chondrodystrophy, schwartz-jampel-aberfeld syndrome, burton skeletal dysplasia, sjs, myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies, dysostosis enchondralis metaepiphysaria, catel-hempel type, burton syndrome, aberfeld syndro
Description
Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities.
Most common symptoms of SCHWARTZ-JAMPEL SYNDROME
- Intellectual disability
- Short stature
- Microcephaly
- Scoliosis
- Hypertelorism
More info about SCHWARTZ-JAMPEL SYNDROME
SOURCES: ORPHANET
SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1
Alternate names
SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 Is also known as sja syndrome, schwartz-jampel-aberfeld syndrome, sjs, myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities, schwartz-jampel syndrome, chondrodystrophic myotonia
Most common symptoms of SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1
- Intellectual disability
- Short stature
- Generalized hypotonia
- Microcephaly
- Growth delay
More info about SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1
SOURCES: OMIM
DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE
Alternate names
DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE Is also known as dyssegmental dwarfism, silverman-handmaker type, anisospondylic camptomicromelic dwarfism, silverman-handmaker type
Description
Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.
Most common symptoms of DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE
- Micrognathia
- Cleft palate
- Cryptorchidism
- Wide nasal bridge
- Talipes equinovarus
More info about DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE
Search interest in HSPG2
Potential gene panels for HSPG2 gene
Myotonic Syndrome Advanced Evaluation Panel
United States.
By Athena Diagnostics Inc Myotonic Syndrome Advanced Evaluation that also includes the following genes: SCN4A CNBP CAV3 CLCN1 DMPK HSPG2 ATP2A1
More info about this panel United States.
NGS Skeletal Dysplasia Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Skeletal Dysplasia Panel that also includes the following genes: SLC26A2 SOX9 TRPV4 COL1A2 COMP FGFR3 FLNA HSPG2
More info about this panel United States.
HSPG2 - Dyssegmental dysplasia / Schwartz Jampel syndrome Panel
Switzerland.
By Centre of Molecular Diseases (CMM) CHUV
This panel specifically test the HSPG2 gene.
More info about this panel Switzerland.
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2
More info about this panel United States.
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2
More info about this panel United States.
HSPG2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the HSPG2 gene.
More info about this panel Spain.
Schwartz-Jampel Syndrome type 1 (sequence analysis of HSPG2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the HSPG2 gene.
More info about this panel Portugal.
Schwartz-Jampel syndrome types 1 and 2 (NGS panel of 2 genes) Panel
Portugal.
By CGC Genetics Schwartz-Jampel syndrome types 1 and 2 (NGS panel of 2 genes) that also includes the following genes: HSPG2 LIFR
More info about this panel Portugal.
Non-dystrophic myotonias (NGS panel for 11 genes) Panel
Portugal.
By CGC Genetics Non-dystrophic myotonias (NGS panel for 11 genes) that also includes the following genes: SCN4A CACNA1A CACNA1S CAV3 CLCN1 KCNJ18 HINT1 HSPG2 KCNA1 KCNE3
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.
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.
Schwartz-Jampel syndrome, type 1 NGS test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the HSPG2 gene.
More info about this panel United States.
Dyssegmental dysplasia, Silverman-Handmaker type Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the HSPG2 gene.
More info about this panel United States.
Schwartz-Jampel syndrome, type 1 Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the HSPG2 gene.
More info about this panel United States.
Dyssegmental dysplasia, Silverman-Handmaker type Comprehensive test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the HSPG2 gene.
More info about this panel United States.
Schwartz-Jampel syndrome, type 1 Comprehensive test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the HSPG2 gene.
More info about this panel United States.
Dyssegmental dysplasia, Silverman-Handmaker type NGS test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the HSPG2 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.
Myotonia Panel
Germany.
By MGZ Medical Genetics Center Myotonia that also includes the following genes: SCN4A ACTA1 CAV3 CLCN1 GAA HINT1 HSPG2 CAVIN1
More info about this panel Germany.
Muscle Weakness (Myopathy, Muscular Dystrophy) Panel
Germany.
By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5
More info about this panel Germany.
Schwartz-Jampel syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the HSPG2 gene.
More info about this panel Germany.
Dyssegmental dysplasia, Silverman-Handmaker type Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the HSPG2 gene.
More info about this panel Germany.
Non-dystrophic myotonia congenita panel Panel
Germany.
By Centogene AG - the Rare Disease Company Non-dystrophic myotonia congenita panel that also includes the following genes: SCN4A CACNA1A CACNA1S CAV3 CLCN1 HINT1 HSPG2 KCNA1 KCNE3 ATP2A1
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.
Non-dystrophic myotonias Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Non-dystrophic myotonias that also includes the following genes: SCN4A CACNA1A CACNA1S CAV3 CLCN1 KCNJ18 HINT1 HSPG2 KCNA1 KCNE3
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.
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.
HSPG2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HSPG2 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.
Facial Dysostosis and Related Disorders Panel Panel
Finland.
By Blueprint Genetics Facial Dysostosis and Related Disorders Panel that also includes the following genes: SF3B4 SMC1A TCOF1 TWIST1 UBE2A HDAC8 SRCAP EVC2 POLR1C POLR1D
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.
Schwartz-Jampel syndrome type 1 Panel
Spain.
By Bioarray
This panel specifically test the HSPG2 gene.
More info about this panel Spain.
MYOTONIA CONGENITA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL MYOTONIA CONGENITA NGS PANEL that also includes the following genes: SCN4A CACNA1S CAV3 CLCN1 HINT1 HSPG2 KCNA1 KCNE3 ATP2A1
More info about this panel Spain.
SCHWARTZ-JAMPEL SYNDROME TYPE 1 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the HSPG2 gene.
More info about this panel Spain.
Schwartz-Jampel Syndrome Type 1, Sequencing HSPG2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the HSPG2 gene.
More info about this panel Spain.
Non-Dystrophic Myotonias , Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Non-Dystrophic Myotonias , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: SCN4A CACNA1A CACNA1S CAV3 CLCN1 HSPG2 KCNA1 KCNE3 ATP2A1
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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