FKBP10 gene related symptoms and diseases
All the information presented here about the FKBP10 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FKBP10 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Scoliosis | Very Common - Between 80% and 100% cases |
| Short stature | Very Common - Between 80% and 100% cases |
| Wormian bones | Very Common - Between 80% and 100% cases |
| Blue sclerae | Common - Between 50% and 80% cases |
| Flexion contracture | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with FKBP10 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Kyphosis
- Dentinogenesis imperfecta
- Recurrent fractures
- Increased susceptibility to fractures
Not very common - Between 30% and 50% cases
- Talipes equinovarus
- Hearing impairment
- Osteopenia
- Protrusio acetabuli
And 73 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FKBP10 gene
Here you will find a list of rare diseases related to the FKBP10. 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 XI; OI11
Alternate names
OSTEOGENESIS IMPERFECTA, TYPE XI; OI11 Is also known as oi, type xi
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 XI is an autosomal recessive form of OI (summary by Alanay et al., 2010).
Most common symptoms of OSTEOGENESIS IMPERFECTA, TYPE XI; OI11
- Short stature
- Scoliosis
- Flexion contracture
- Abnormality of the dentition
- Brachycephaly
More info about OSTEOGENESIS IMPERFECTA, TYPE XI; OI11
SOURCES: OMIM
ARTHROGRYPOSIS-LIKE SYNDROME
Alternate names
ARTHROGRYPOSIS-LIKE SYNDROME Is also known as kuskokwim disease
Description
Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.
Most common symptoms of ARTHROGRYPOSIS-LIKE SYNDROME
- Scoliosis
- Flexion contracture
- Skeletal muscle atrophy
- Gait disturbance
- Abnormality of the skeletal system
More info about ARTHROGRYPOSIS-LIKE SYNDROME
SOURCES: ORPHANET
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 FKBP10
Potential gene panels for FKBP10 gene
FKBP10 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the FKBP10 gene.
More info about this panel United States.
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.
FKBP10 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the FKBP10 gene.
More info about this panel United States.
FKBP10 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the FKBP10 gene.
More info about this panel United States.
FKBP10 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the FKBP10 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.
Osteogenesis Imperfecta (FKBP10 gene related) Panel
New Zealand.
By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital
This panel specifically test the FKBP10 gene.
More info about this panel New Zealand.
FKBP10 - Osteogenesis imperfecta type 6 Panel
Switzerland.
By Centre of Molecular Diseases (CMM) CHUV
This panel specifically test the FKBP10 gene.
More info about this panel Switzerland.
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication Panel
United States.
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 panel United States.
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal Panel
United States.
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 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-Bruck syndrome 1 Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the FKBP10 gene.
More info about this panel United Kingdom.
Osteogenesis Imperfecta, autosomal recessive-FKBP10 Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the FKBP10 gene.
More info about this panel United Kingdom.
Osteogenesis imperfecta type XI (sequence analysis of FKBP10 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FKBP10 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 FKBP10 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the FKBP10 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.
FKBP10-related osteogenesis imperfecta Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the FKBP10 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 11 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the FKBP10 gene.
More info about this panel Germany.
Osteogenesis imperfecta type XI Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the FKBP10 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.
FKBP10 mutational analysis Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the FKBP10 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.
FKBP10 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FKBP10 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.
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.
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.
ARTHROGRYPOSIS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL ARTHROGRYPOSIS NGS PANEL that also includes the following genes: TNNI2 TNNT3 TPM2 UBA1 VPS33B SYNE1 FKBP10 NALCN VIPAS39 ZC4H2
More info about this panel Spain.
Bruck Syndrome Type 1, Sequencing FKBP10 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FKBP10 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.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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