SPARC gene related symptoms and diseases
All the information presented here about the SPARC gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SPARC gene
Symptoms // Phenotype | % Cases |
---|---|
Short stature | Very Common - Between 80% and 100% cases |
Scoliosis | Very Common - Between 80% and 100% cases |
Kyphosis | Very Common - Between 80% and 100% cases |
Reduced bone mineral density | Uncommon - Between 30% and 50% cases |
Hearing impairment | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SPARC gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Bruising susceptibility
- Recurrent fractures
- Blue sclerae
- Wormian bones
- Spondylolisthesis
- Mild short stature
- Intraventricular hemorrhage
- Dentinogenesis imperfecta
And 21 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SPARC gene
Here you will find a list of rare diseases related to the SPARC. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OSTEOGENESIS IMPERFECTA, TYPE XVII; OI17
Most common symptoms of OSTEOGENESIS IMPERFECTA, TYPE XVII; OI17
- Short stature
- Generalized hypotonia
- Scoliosis
- Muscle weakness
- Muscular hypotonia
More info about OSTEOGENESIS IMPERFECTA, TYPE XVII; OI17
SOURCES: OMIM
OSTEOGENESIS IMPERFECTA TYPE 4
Alternate names
OSTEOGENESIS IMPERFECTA TYPE 4 Is also known as osteogenesis imperfecta with normal sclerae, oi type 4, oi, type iv
Description
Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term).
Most common symptoms of OSTEOGENESIS IMPERFECTA TYPE 4
- Short stature
- Hearing impairment
- Scoliosis
- Kyphosis
- Bruising susceptibility
More info about OSTEOGENESIS IMPERFECTA TYPE 4
Search interest in SPARC
Potential gene panels for SPARC gene
Osteogenesis Imperfecta and Genetic Bone Disorders Panel Panel
By Collagen Diagnostic Laboratory University of Washington Osteogenesis Imperfecta and Genetic Bone Disorders Panel that also includes the following genes: BMP1 SEC24D SPARC TNFRSF11B WNT1 MBTPS2 SERPINH1 XYLT2 NBAS IFITM5
More info about this panelOsteogenesis Imperfecta & Low Bone Mass Disorders Panel Panel
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Osteogenesis Imperfecta & Low Bone Mass Disorders Panel that also includes the following genes: BMP1 SEC24D SPARC WNT1 CASR SERPINH1 IFITM5 SP7 FKBP10 CREB3L1
More info about this panelEhlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection that also includes the following genes: SPARC TGFBR1 TGFBR2 TNFRSF1A TNXB C1R C1S LZTS1 ADAMTSL2 B3GALT6
More info about this panelOsteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection that also includes the following genes: SCN9A BMP1 SEC24D SLC2A2 SPARC WNT1 MBTPS2 SERPINH1 XYLT2 NBAS
More info about this panelOsteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection that also includes the following genes: SCN9A BMP1 SEC24D SLC2A2 SPARC WNT1 MBTPS2 SERPINH1 XYLT2 NBAS
More info about this panelOsteogenesis imperfecta Comprehensive panel - Dominant & Recessive Panel
By Connective Tissue Gene Tests Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1
More info about this panelOsteogenesis imperfecta Deletion / Duplication panel - Recessive Panel
By Connective Tissue Gene Tests Osteogenesis imperfecta Deletion / Duplication panel - Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 SP7 FKBP10 CREB3L1 P3H1
More info about this panelOsteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive Panel
By Connective Tissue Gene Tests Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1
More info about this panelOsteogenesis imperfecta NGS panel - Recessive Panel
By Connective Tissue Gene Tests Osteogenesis imperfecta NGS panel - Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 SP7 FKBP10 CREB3L1 P3H1
More info about this panelOsteogenesis imperfecta Comprehensive panel - Recessive Panel
By Connective Tissue Gene Tests Osteogenesis imperfecta Comprehensive panel - Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 SP7 FKBP10 CREB3L1 P3H1
More info about this panelOsteogenesis imperfecta NGS panel - Dominant & Recessive Panel
By Connective Tissue Gene Tests Osteogenesis imperfecta NGS panel - Dominant & Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1
More info about this panelSPARC-related osteogenesis imperfecta Panel
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the SPARC gene.
More info about this panelOsteogenesis imperfecta and osteoporosis - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Osteogenesis imperfecta and osteoporosis - different panels that also includes the following genes: BMP1 SEC24D SPARC WNT1 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1 P3H1
More info about this panelOI panel 2 Panel
By Connective Tissue Laboratory Ghent University Hospital OI panel 2 that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 XYLT2 SP7 B3GALT6 FKBP10
More info about this panelSPARC Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SPARC gene.
More info about this panelOsteogenesis Imperfecta Panel Panel
By Blueprint Genetics Osteogenesis Imperfecta Panel that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1
More info about this panelComprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
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 panelOSTEOGENESIS IMPERFECTA NGS PANEL Panel
By Laboratorio de Genetica Clinica SL OSTEOGENESIS IMPERFECTA NGS PANEL that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1
More info about this panel152 Integrated Advantage NGS Solid Tumor Panel Panel
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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like KCNB1 TDO2 CSMD2 CACNA1S RLBP1 CACNA1D MVK