IFITM5 gene related symptoms and diseases
All the information presented here about the IFITM5 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 IFITM5 gene
Symptoms // Phenotype | % Cases |
---|---|
Short stature | Very Common - Between 80% and 100% cases |
Dislocated radial head | Very Common - Between 80% and 100% cases |
Blue sclerae | Very Common - Between 80% and 100% cases |
Rhizomelia | Very Common - Between 80% and 100% cases |
Wormian bones | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with IFITM5 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormality of pelvic girdle bone morphology
- Relative macrocephaly
- Increased susceptibility to fractures
- Mixed hearing impairment
- Barrel-shaped chest
- Round face
- Vertebral compression fractures
- Dentinogenesis imperfecta
And 28 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to IFITM5 gene
Here you will find a list of rare diseases related to the IFITM5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OSTEOGENESIS IMPERFECTA TYPE 5
Alternate names
OSTEOGENESIS IMPERFECTA TYPE 5 Is also known as oi type 5, oi, type v
Description
Osteogenesis imperfecta type V 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 with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term).
Most common symptoms of OSTEOGENESIS IMPERFECTA TYPE 5
- Short stature
- Generalized hypotonia
- Hearing impairment
- Scoliosis
- Macrocephaly
More info about OSTEOGENESIS IMPERFECTA TYPE 5
Search interest in IFITM5
Potential gene panels for IFITM5 gene
Osteogenesis Imperfecta, Type V Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the IFITM5 gene.
More info about this panelOsteogenesis Imperfecta, Type V (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the IFITM5 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 panelAutosomal Dominant Osteogenesis imperfecta panel Panel
By Collagen Diagnostic Laboratory University of Washington Autosomal Dominant Osteogenesis imperfecta panel that also includes the following genes: IFITM5 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 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, type V Panel
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the IFITM5 gene.
More info about this panelIFITM5. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the IFITM5 gene.
More info about this panelOsteogenesis imperfecta type V (sequence analysis of IFITM5 gene) Panel
By CGC Genetics
This panel specifically test the IFITM5 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 via IFITM5 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the IFITM5 gene.
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 Comprehensive panel - Dominant Panel
By Connective Tissue Gene Tests Osteogenesis imperfecta Comprehensive panel - Dominant that also includes the following genes: IFITM5 COL1A2 ANO5 ALPL P4HB PLS3
More info about this panelOsteogenesis imperfecta core Comprehensive panel Panel
By Connective Tissue Gene Tests Osteogenesis imperfecta core Comprehensive panel that also includes the following genes: IFITM5 COL1A2
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 core Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Osteogenesis imperfecta core Deletion / Duplication panel that also includes the following genes: IFITM5 COL1A2
More info about this panelOsteogenesis imperfecta Deletion / Duplication panel - Dominant Panel
By Connective Tissue Gene Tests Osteogenesis imperfecta Deletion / Duplication panel - Dominant that also includes the following genes: IFITM5 COL1A2 ANO5 ALPL P4HB PLS3
More info about this panelOsteogenesis imperfecta NGS panel - Dominant Panel
By Connective Tissue Gene Tests Osteogenesis imperfecta NGS panel - Dominant that also includes the following genes: IFITM5 COL1A2 ANO5 ALPL P4HB PLS3
More info about this panelOsteogenesis imperfecta core NGS panel Panel
By Connective Tissue Gene Tests Osteogenesis imperfecta core NGS panel that also includes the following genes: IFITM5 COL1A2
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 panelOsteogenesis imperfecta, type V Sequencing test Panel
By Connective Tissue Gene Tests
This panel specifically test the IFITM5 gene.
More info about this panelOsteogenesis imperfecta, type V Comprehensive test Panel
By Connective Tissue Gene Tests
This panel specifically test the IFITM5 gene.
More info about this panelOsteogenesis imperfecta, type V Deletion / Duplication test Panel
By Connective Tissue Gene Tests
This panel specifically test the IFITM5 gene.
More info about this panelIFITM5-related osteogenesis imperfecta Panel
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the IFITM5 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 type V Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the IFITM5 gene.
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 panelIFITM5 mutational analysis Panel
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the IFITM5 gene.
More info about this panelOI panel 1 Panel
By Connective Tissue Laboratory Ghent University Hospital OI panel 1 that also includes the following genes: IFITM5 COL1A2
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 panelIFITM5 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the IFITM5 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 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 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 Type V , Sequencing IFITM5 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the IFITM5 gene.
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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