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

SOURCES: MESH ORPHANET OMIM


Potential gene panels for IFITM5 gene

Osteogenesis Imperfecta, Type V Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the IFITM5 gene.

More info about this panel
United States.

Osteogenesis Imperfecta, Type V (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the IFITM5 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.

Autosomal Dominant Osteogenesis imperfecta panel Panel

United States.

By Collagen Diagnostic Laboratory University of Washington Autosomal Dominant Osteogenesis imperfecta panel that also includes the following genes: IFITM5 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, type V Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust

This panel specifically test the IFITM5 gene.

More info about this panel
United Kingdom.

IFITM5. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the IFITM5 gene.

More info about this panel
Spain.

Osteogenesis imperfecta type V (sequence analysis of IFITM5 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the IFITM5 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 IFITM5 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the IFITM5 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 Comprehensive panel - Dominant Panel

United States.

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 panel
United States.

Osteogenesis imperfecta core Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta core Comprehensive panel that also includes the following genes: IFITM5 COL1A2

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 core Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta core Deletion / Duplication panel that also includes the following genes: IFITM5 COL1A2

More info about this panel
United States.

Osteogenesis imperfecta Deletion / Duplication panel - Dominant Panel

United States.

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 panel
United States.

Osteogenesis imperfecta NGS panel - Dominant Panel

United States.

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 panel
United States.

Osteogenesis imperfecta core NGS panel Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta core NGS panel that also includes the following genes: IFITM5 COL1A2

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.

Osteogenesis imperfecta, type V Sequencing test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the IFITM5 gene.

More info about this panel
United States.

Osteogenesis imperfecta, type V Comprehensive test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the IFITM5 gene.

More info about this panel
United States.

Osteogenesis imperfecta, type V Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the IFITM5 gene.

More info about this panel
United States.

IFITM5-related osteogenesis imperfecta Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the IFITM5 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 type V Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the IFITM5 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.

IFITM5 mutational analysis Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital

This panel specifically test the IFITM5 gene.

More info about this panel
Belgium.

OI panel 1 Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital OI panel 1 that also includes the following genes: IFITM5 COL1A2

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.

IFITM5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IFITM5 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 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 Type V , Sequencing IFITM5 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the IFITM5 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.

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