PLOD2 gene related symptoms and diseases
All the information presented here about the PLOD2 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 PLOD2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Platyspondyly | Very Common - Between 80% and 100% cases |
| Scoliosis | Very Common - Between 80% and 100% cases |
| Increased susceptibility to fractures | Very Common - Between 80% and 100% cases |
| Pterygium | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PLOD2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Knee flexion contracture
- Wormian bones
- Elbow flexion contracture
- Recurrent fractures
- Arthrogryposis multiplex congenita
- Bilateral talipes equinovarus
- Pectus carinatum
- Flexion contracture
And 32 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PLOD2 gene
Here you will find a list of rare diseases related to the PLOD2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BRUCK SYNDROME
Alternate names
BRUCK SYNDROME Is also known as osteogenesis imperfecta with congenital joint contractures, osteogenesis imperfecta-congenital joint contractures syndrome
Description
Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures.
Most common symptoms of BRUCK SYNDROME
- Short stature
- Scoliosis
- Flexion contracture
- Talipes equinovarus
- Respiratory insufficiency
More info about BRUCK SYNDROME
BRUCK SYNDROME 1; BRKS1
Alternate names
BRUCK SYNDROME 1; BRKS1 Is also known as arthrogryposis-like disorder, kuskokwim disease
Description
Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis (McPherson and Clemens, 1997).
Most common symptoms of BRUCK SYNDROME 1; BRKS1
- Short stature
- Hearing impairment
- Scoliosis
- Flexion contracture
- Talipes equinovarus
More info about BRUCK SYNDROME 1; BRKS1
SOURCES: OMIM
Search interest in PLOD2
Potential gene panels for PLOD2 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.
PLOD2 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the PLOD2 gene.
More info about this panel United States.
PLOD2 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the PLOD2 gene.
More info about this panel United States.
PLOD2 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the PLOD2 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.
Congenital Contractures Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Contractures Panel that also includes the following genes: SKI SLC18A3 TNNI2 TNNT3 TPM2 TPM3 UBA1 ZMPSTE24 ACTA1 ADGRG6
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.
PLOD2 - Bruck syndrome 2 Panel
Switzerland.
By Centre of Molecular Diseases (CMM) CHUV
This panel specifically test the PLOD2 gene.
More info about this panel Switzerland.
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-Bruck syndrome 2 Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the PLOD2 gene.
More info about this panel United Kingdom.
PLOD2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PLOD2 gene.
More info about this panel Spain.
Bruck syndrome 2 (BRKS2, sequence analysis of PLOD2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PLOD2 gene.
More info about this panel Portugal.
Bruck syndrome 2 (BRKS2, sequence analysis of PLOD2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PLOD2 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-Bruck Syndrome Type II via PLOD2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PLOD2 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.
Bruck syndrom 2 Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the PLOD2 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 with congenital joint contractures Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PLOD2 gene.
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 with congenital joint contractures Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PLOD2 gene.
More info about this panel Germany.
Congenital Myasthenic Syndromes and Arthrogryposis Panel Panel
Germany.
By CeGaT GmbH Congenital Myasthenic Syndromes and Arthrogryposis Panel that also includes the following genes: SCN4A SNAP25 SYT2 TNNI2 TNNT3 TPM2 ADGRG6 SYNE1 FKBP10 NALCN
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.
PLOD2 mutational analysis Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the PLOD2 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.
Bruck syndrome 2 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the PLOD2 gene.
More info about this panel Austria.
Bruck syndrome 2 Panel
Slovakia.
By MedGene
This panel specifically test the PLOD2 gene.
More info about this panel Slovakia.
Bruck, Syndrome type 2: PLOD2 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PLOD2 gene.
More info about this panel Spain.
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.
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.
PLOD2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PLOD2 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.
Arthrogryposes Panel Panel
Finland.
By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B
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.
Skeletal Dysplasia with Abnormal Mineralization Panel Panel
Finland.
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 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.
Bruck syndrome 2 Panel
Spain.
By Bioarray
This panel specifically test the PLOD2 gene.
More info about this panel Spain.
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.
BRUCKS SYNDROME (OSTEOGENESIS IMPERFECTA-CONGENITAL JOINT CONTRACTURES) Panel
Spain.
By Laboratorio de Genetica Clinica SL BRUCKS SYNDROME (OSTEOGENESIS IMPERFECTA-CONGENITAL JOINT CONTRACTURES) that also includes the following genes: FKBP10 PLOD2
More info about this panel Spain.
Bruck Syndrome Type 2, Sequencing PLOD2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PLOD2 gene.
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.
Bruck Syndrome , Panel Massive Sequencing (NGS) FKBP10, PLOD2 Genes Panel
Spain.
By Reference Laboratory Genetics Bruck Syndrome , Panel Massive Sequencing (NGS) FKBP10, PLOD2 Genes that also includes the following genes: FKBP10 PLOD2
More info about this panel Spain.
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