PPIB gene related symptoms and diseases
All the information presented here about the PPIB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PPIB gene
Symptoms // Phenotype | % Cases |
---|---|
Recurrent fractures | Very Common - Between 80% and 100% cases |
Blue sclerae | Very Common - Between 80% and 100% cases |
Wormian bones | Very Common - Between 80% and 100% cases |
Dentinogenesis imperfecta | Common - Between 50% and 80% cases |
Scoliosis | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with PPIB gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Bowing of limbs due to multiple fractures
- Multiple prenatal fractures
- Kyphosis
- Increased susceptibility to fractures
Not very common - Between 30% and 50% cases
- Hearing impairment
- Disproportionate short-limb short stature
- Tibial bowing
- Wide anterior fontanel
And 55 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PPIB gene
Here you will find a list of rare diseases related to the PPIB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OSTEOGENESIS IMPERFECTA TYPE 3
Alternate names
OSTEOGENESIS IMPERFECTA TYPE 3 Is also known as severe osteogenesis imperfecta, osteogenesis imperfecta, progressively deforming, with normal sclerae, progressive deforming osteogenesis imperfecta, oi type 3, oi, type iii
Description
Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term).
Most common symptoms of OSTEOGENESIS IMPERFECTA TYPE 3
- Short stature
- Hearing impairment
- Scoliosis
- Micrognathia
- Macrocephaly
More info about OSTEOGENESIS IMPERFECTA TYPE 3
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 2
Alternate names
OSTEOGENESIS IMPERFECTA TYPE 2 Is also known as osteogenesis imperfecta congenita, perinatal lethal form, osteogenesis imperfecta congenita, oi type 2, lethal osteogenesis imperfecta, oi, type ii, oic, vrolik type of osteogenesis imperfecta
Description
Osteogenesis imperfecta type II is a lethal 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 II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.
Most common symptoms of OSTEOGENESIS IMPERFECTA TYPE 2
- Microcephaly
- Cataract
- Respiratory insufficiency
- Congestive heart failure
- Abnormality of the dentition
More info about OSTEOGENESIS IMPERFECTA TYPE 2
OSTEOGENESIS IMPERFECTA, TYPE IX; OI9
Alternate names
OSTEOGENESIS IMPERFECTA, TYPE IX; OI9 Is also known as oi, type ix
Description
Osteogenesis imperfecta is a connective tissue disorder characterized clinically by bone fragility and increased susceptibility to fractures. Osteogenesis imperfecta type IX is a severe autosomal recessive form of the disorder (summary by van Dijk et al., 2009).
Most common symptoms of OSTEOGENESIS IMPERFECTA, TYPE IX; OI9
- Scoliosis
- Growth delay
- Macrocephaly
- Kyphosis
- Pectus excavatum
More info about OSTEOGENESIS IMPERFECTA, TYPE IX; OI9
Search interest in PPIB
Potential gene panels for PPIB gene
MitoMet®Plus aCGH Analysis Panel
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 panelPPIB Comprehensive - Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the PPIB gene.
More info about this panelPPIB Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the PPIB gene.
More info about this panelPPIB Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the PPIB gene.
More info about this panelPPIB Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the PPIB gene.
More info about this panelLow Bone Mass Panel (MitomeNGS) Panel
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 panelOsteogenesis 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 panelSkeletal Dysplasia Panel, Sequencing and Deletion/Duplication Panel
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 panelSkeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal Panel
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 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 panelOsteogenesis Imperfecta, autosomal recessive-PPIB Panel
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the PPIB gene.
More info about this panelPPIB. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PPIB gene.
More info about this panelOsteogenesis imperfecta type IX (sequence analysis of PPIB gene) Panel
By CGC Genetics
This panel specifically test the PPIB gene.
More info about this panelOsteogenesis imperfecta (NGS panel for 16 genes) Panel
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 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 panelSkeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
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 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 panelPPIB-related osteogenesis imperfecta Panel
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the PPIB 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 panelOsteogenesis imperfecta panel, autosomal recessive Panel
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 panelOsteogenesis imperfecta type IX Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PPIB gene.
More info about this panelPotentially lethal skeletal disorders Panel Panel
By CeGaT GmbH Potentially lethal skeletal disorders Panel that also includes the following genes: SLC26A2 SOX9 TRIP11 WNT7A NSDHL TRPV4 P3H1 CANT1 SLC35D1 COL11A1
More info about this panelChondrodysplasia punctata Panel Panel
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 panelPPIB mutational analysis Panel
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the PPIB gene.
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 panelOSTEOGENESIS IMPERFECTA Panel
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 panelNGS panel - Osteogenesis Imperfecta and related disorders Panel
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 panelOsteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel Panel
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 panelSkeletal Dysplasia: Sequencing Panel Panel
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 panelAmelogenesis Imperfecta NGS Panel Panel
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 panelSkeletal Dysplasias NGS panel Panel
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 panelPPIB Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PPIB 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 panelSkeletal Dysplasias Core Panel Panel
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 panelComprehensive Skeletal Dysplasias and Disorders Panel Panel
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 panelSkeletal Dysplasia with Abnormal Mineralization Panel Panel
By Blueprint Genetics Skeletal Dysplasia with Abnormal Mineralization Panel that also includes the following genes: SOX9 TNFRSF11A TNFRSF11B VDR SNX10 CASR ANKH FKBP10 P3H1 CLCN5
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 panelCombined Skeletal Dysplasia/Osteogenesis Imperfecta Panel Panel
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 panelOsteogenesis Imperfecta type IX Panel
By Bioarray
This panel specifically test the PPIB gene.
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 panelOSTEOGENESIS IMPERFECTA (AUTOSOMAL RECESSIVE) Panel
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 panelOsteogenesis Imperfecta , Panel Massive Sequencing (NGS) 12 Genes Panel
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
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