Osteogenesis Imperfecta, Type V; Oi5

Description

Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (OMIM ); perinatal lethal OI type II, also known as congenital OI (OMIM ); OI type III, a progressively deforming form with normal sclerae (OMIM ); and OI type IV, with normal sclerae (OMIM ). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ). Glorieux et al. (2000) described a novel autosomal dominant form of OI, which they designated OI type V, in 7 patients. The disorder was similar to OI type IV but had distinctive clinical, histologic, and molecular characteristics. OI type V is characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation (summary by Cho et al., 2012).

Clinical Features

Top most frequent phenotypes and symptoms related to Osteogenesis Imperfecta, Type V; Oi5

  • Short stature
  • Generalized hypotonia
  • Pica
  • Hearing impairment
  • Scoliosis
  • Pain
  • Macrocephaly
  • Abnormality of metabolism/homeostasis
  • Abnormality of the dentition
  • Pectus excavatum
And another 35 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Osteogenesis Imperfecta, Type V; Oi5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Osteogenesis Imperfecta, Type V.

By Baylor Miraca Genetics Laboratories in United States.

IFITM5
Specificity
100 %
Genes
100 %
Osteogenesis Imperfecta, Type V (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

IFITM5
Specificity
100 %
Genes
100 %
Low Bone Mass Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories in United States.

ALPL, FKBP10, B4GALT7, IFITM5, COL1A1, COL1A2, COL3A1, SLC34A1, TNFRSF11A, FBN1, SERPINF1, SP7, PLOD3, SLC39A13, SLC9A3R1, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Autosomal Dominant Osteogenesis imperfecta panel.

By Collagen Diagnostic Laboratory University of Washington in United States.

IFITM5, COL1A1, COL1A2
Specificity
34 %
Genes
100 %
Osteogenesis Imperfecta and Genetic Bone Disorders Panel.

By Collagen Diagnostic Laboratory University of Washington in United States.

ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, PLOD3, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, MBTPS2, PLS3, TAPT1, SPARC, XYLT2 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Osteogenesis Imperfecta & Low Bone Mass Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, CASR, PHEX, FGF23, PLS3, SPARC, TMEM38B, BMP1, WNT1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Osteogenesis Imperfecta, type V.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

IFITM5
Specificity
100 %
Genes
100 %
IFITM5. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

IFITM5
Specificity
100 %
Genes
100 %
Osteogenesis imperfecta type V (sequence analysis of IFITM5 gene).

By CGC Genetics in Portugal.

IFITM5
Specificity
100 %
Genes
100 %
Osteogenesis imperfecta (NGS panel for 16 genes).

By CGC Genetics in Portugal.

FKBP10, IFITM5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PLS3, TMEM38B, BMP1, WNT1, SERPINH1, CREB3L1
Specificity
7 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
100 %
Osteogenesis Imperfecta via the IFITM5 Gene.

By PreventionGenetics PreventionGenetics in United States.

IFITM5
Specificity
100 %
Genes
100 %
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PLS3, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1
Specificity
6 %
Genes
100 %
Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, CYP27B1, PPIB, PHEX, FGF23, PLS3, TMEM38B, BMP1, WNT1, SERPINH1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Osteogenesis imperfecta Comprehensive panel - Dominant.

By Connective Tissue Gene Tests in United States.

ALPL, IFITM5, COL1A1, COL1A2, ANO5, PLS3, P4HB
Specificity
15 %
Genes
100 %
Osteogenesis imperfecta core Comprehensive panel.

By Connective Tissue Gene Tests in United States.

IFITM5, COL1A1, COL1A2
Specificity
34 %
Genes
100 %
Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Osteogenesis imperfecta core Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

IFITM5, COL1A1, COL1A2
Specificity
34 %
Genes
100 %
Osteogenesis imperfecta Deletion / Duplication panel - Dominant.

By Connective Tissue Gene Tests in United States.

ALPL, IFITM5, COL1A1, COL1A2, ANO5, PLS3, P4HB
Specificity
15 %
Genes
100 %
Osteogenesis imperfecta NGS panel - Dominant.

By Connective Tissue Gene Tests in United States.

ALPL, IFITM5, COL1A1, COL1A2, ANO5, PLS3, P4HB
Specificity
15 %
Genes
100 %
Osteogenesis imperfecta core NGS panel.

By Connective Tissue Gene Tests in United States.

IFITM5, COL1A1, COL1A2
Specificity
34 %
Genes
100 %
Osteogenesis imperfecta NGS panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Osteogenesis imperfecta, type V Sequencing test.

By Connective Tissue Gene Tests in United States.

IFITM5
Specificity
100 %
Genes
100 %
Osteogenesis imperfecta, type V Comprehensive test.

By Connective Tissue Gene Tests in United States.

IFITM5
Specificity
100 %
Genes
100 %
Osteogenesis imperfecta, type V Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

IFITM5
Specificity
100 %
Genes
100 %
IFITM5-related osteogenesis imperfecta.

By Institute of Human Genetics Cologne University in Germany.

IFITM5
Specificity
100 %
Genes
100 %
Osteogenesis imperfecta and osteoporosis - different panels.

By Institute of Human Genetics Cologne University in Germany.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, PLS3, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Osteogenesis imperfecta type V.

By Centogene AG - the Rare Disease Company in Germany.

IFITM5
Specificity
100 %
Genes
100 %
Chondrodysplasia punctata Panel.

By CeGaT GmbH in Germany.

FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, PYCR1, ATP6V0A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, ANO5, PLS3, TMEM38B, BMP1, WNT1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
IFITM5 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

IFITM5
Specificity
100 %
Genes
100 %
OI panel 1.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

IFITM5, COL1A1, COL1A2
Specificity
34 %
Genes
100 %
OSTEOGENESIS IMPERFECTA.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, BMP1, SERPINH1
Specificity
8 %
Genes
100 %
NGS panel - Osteogenesis Imperfecta and related disorders.

By Genome Diagnostics VU University Medical Center in Netherlands.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PLS3, TAPT1, TMEM38B, BMP1, WNT1, SERPINH1, CREB3L1
Specificity
6 %
Genes
100 %
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, TNFRSF11A, PYCR1, ATP6V0A2, SP7, P3H1, CRTAP, PLOD2, PPIB, LMNA, CASR, PHEX , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 143 more genes
Specificity
1 %
Genes
100 %
Amelogenesis Imperfecta NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FKBP10, IFITM5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PPIB, DSPP, BMP1, SERPINH1, FAM20A, AMELX, DLX3, FAM83H, ENAM, KLK4, MMP20, WDR72
Specificity
5 %
Genes
100 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 141 more genes
Specificity
1 %
Genes
100 %
IFITM5.

By Fulgent Genetics Fulgent Genetics in United States.

IFITM5
Specificity
100 %
Genes
100 %
Osteogenesis Imperfecta Panel.

By Blueprint Genetics in Finland.

ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PHEX, FGF23, MBTPS2, PLS3, SPARC, TMEM38B, BMP1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel.

By Insight Medical Genetics in United States.

ALPL, FKBP10, IFITM5, COL2A1, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, AGPS, PPIB, FGFR3, FGFR2, PEX7, SLC26A2, FGFR1, COL11A1, TWIST1 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Osteogenesis Imperfecta Type V , Sequencing IFITM5 Gene.

By Reference Laboratory Genetics in Spain.

IFITM5
Specificity
100 %
Genes
100 %
Osteogenesis Imperfecta , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

FKBP10, IFITM5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, BMP1, SERPINH1
Specificity
9 %
Genes
100 %

Alternate names

Osteogenesis Imperfecta, Type V; Oi5 Is also known as oi, type v;oi type 5.



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