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

SOURCES: OMIM ORPHANET MESH


Potential gene panels for SPARC gene

Osteogenesis Imperfecta and Genetic Bone Disorders Panel Panel

United States.

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 panel
United States.

Osteogenesis Imperfecta & Low Bone Mass Disorders Panel Panel

United States.

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 panel
United States.

Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive Panel

United States.

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 panel
United States.

Osteogenesis imperfecta Deletion / Duplication panel - Recessive Panel

United States.

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 panel
United States.

Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive Panel

United States.

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 panel
United States.

Osteogenesis imperfecta NGS panel - Recessive Panel

United States.

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 panel
United States.

Osteogenesis imperfecta Comprehensive panel - Recessive Panel

United States.

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 panel
United States.

Osteogenesis imperfecta NGS panel - Dominant & Recessive Panel

United States.

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 panel
United States.

SPARC-related osteogenesis imperfecta Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the SPARC gene.

More info about this panel
Germany.

Osteogenesis imperfecta and osteoporosis - different panels Panel

Germany.

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 panel
Germany.

OI panel 2 Panel

Belgium.

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 panel
Belgium.

SPARC Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SPARC gene.

More info about this panel
United States.

Osteogenesis Imperfecta Panel Panel

Finland.

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 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.

OSTEOGENESIS IMPERFECTA NGS PANEL Panel

Spain.

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 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.

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