SP7 gene related symptoms and diseases
All the information presented here about the SP7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SP7 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Recurrent fractures | Very Common - Between 80% and 100% cases |
| Hearing impairment | Very Common - Between 80% and 100% cases |
| Wormian bones | Very Common - Between 80% and 100% cases |
| Dentinogenesis imperfecta | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SP7 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Scoliosis
Not very common - Between 30% and 50% cases
- Mixed hearing impairment
- Platyspondyly
- Osteoporosis
- Narrow mouth
- Osteopenia
- Protruding ear
- Pectus carinatum
And 27 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SP7 gene
Here you will find a list of rare diseases related to the SP7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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
OSTEOGENESIS IMPERFECTA, TYPE XII; OI12
Alternate names
OSTEOGENESIS IMPERFECTA, TYPE XII; OI12 Is also known as oi, type xii
Description
Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by Lapunzina et al., 2010).
Most common symptoms of OSTEOGENESIS IMPERFECTA, TYPE XII; OI12
- Short stature
- Hearing impairment
- Scoliosis
- Micrognathia
- Sensorineural hearing impairment
More info about OSTEOGENESIS IMPERFECTA, TYPE XII; OI12
SOURCES: OMIM
Search interest in SP7
Potential gene panels for SP7 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
SP7 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SP7 gene.
More info about this panel United States.
SP7 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SP7 gene.
More info about this panel United States.
SP7 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SP7 gene.
More info about this panel United States.
SP7 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SP7 gene.
More info about this panel United States.
Low Bone Mass Panel (MitomeNGS) Panel
United States.
By Baylor Miraca Genetics Laboratories Low Bone Mass Panel (MitomeNGS) that also includes the following genes: SLC34A1 SLC9A3R1 TNFRSF11A TNFRSF11B IFITM5 SP7 FKBP10 P3H1 SLC39A13 COL1A2
More info about this panel United States.
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.
Osteogenesis Imperfecta, autosomal recessive-SP7 Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the SP7 gene.
More info about this panel United Kingdom.
Osteogenesis imperfecta type XII (sequence analysis of SP7 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SP7 gene.
More info about this panel Portugal.
Osteogenesis imperfecta (NGS panel for 16 genes) Panel
Portugal.
By CGC Genetics Osteogenesis imperfecta (NGS panel for 16 genes) that also includes the following genes: BMP1 WNT1 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1 P3H1 COL1A2 CRTAP
More info about this panel Portugal.
Osteogenesis Imperfecta via SP7 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SP7 gene.
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.
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.
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.
SP7-related osteogenesis imperfecta Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the SP7 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.
Osteogenesis imperfecta panel, autosomal recessive Panel
Germany.
By Centogene AG - the Rare Disease Company Osteogenesis imperfecta panel, autosomal recessive that also includes the following genes: BMP1 SERPINH1 SP7 FKBP10 P3H1 CRTAP PLOD2 PPIB
More info about this panel Germany.
Osteogenesis imperfecta, type XII Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SP7 gene.
More info about this panel Germany.
Chondrodysplasia punctata Panel Panel
Germany.
By CeGaT GmbH Chondrodysplasia punctata Panel that also includes the following genes: BMP1 TNFRSF11B WNT1 SERPINH1 IFITM5 SP7 FKBP10 ATP6V0A2 P3H1 COL1A2
More info about this panel Germany.
SP7 mutational analysis Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the SP7 gene.
More info about this panel Belgium.
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.
OSTEOGENESIS IMPERFECTA Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases OSTEOGENESIS IMPERFECTA that also includes the following genes: BMP1 SERPINH1 IFITM5 SP7 FKBP10 P3H1 COL1A2 CRTAP ANO5 LRP5
More info about this panel Spain.
NGS panel - Osteogenesis Imperfecta and related disorders Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Osteogenesis Imperfecta and related disorders that also includes the following genes: BMP1 WNT1 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1 P3H1 COL1A2 CRTAP
More info about this panel Netherlands.
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel that also includes the following genes: TNFRSF11A TYROBP ZMPSTE24 CASR SERPINH1 ANKH IFITM5 SP7 TREM2 FKBP10
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.
Amelogenesis Imperfecta NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Amelogenesis Imperfecta NGS Panel that also includes the following genes: BMP1 SERPINH1 IFITM5 SP7 FKBP10 P3H1 COL1A2 FAM20A CRTAP FAM83H
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.
SP7 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SP7 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 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.
Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel Panel
United States.
By Insight Medical Genetics Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel that also includes the following genes: ROR2 BMP1 SLC26A2 SOX9 TWIST1 WNT1 SERPINH1 IFITM5 SP7 FKBP10
More info about this panel United States.
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.
OSTEOGENESIS IMPERFECTA (AUTOSOMAL RECESSIVE) Panel
Spain.
By Laboratorio de Genetica Clinica SL OSTEOGENESIS IMPERFECTA (AUTOSOMAL RECESSIVE) that also includes the following genes: BMP1 WNT1 SERPINH1 SP7 FKBP10 P3H1 CRTAP SERPINF1 PPIB
More info about this panel Spain.
Osteogenesis Imperfecta , Panel Massive Sequencing (NGS) 12 Genes Panel
Spain.
By Reference Laboratory Genetics Osteogenesis Imperfecta , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: BMP1 SERPINH1 IFITM5 SP7 FKBP10 P3H1 COL1A2 CRTAP SERPINF1 PLOD2
More info about this panel Spain.
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