Osteogenesis imperfecta (OI) 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 cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ).Shaheen et al. (2012) described osteogenesis imperfecta type XIV (OI14), an autosomal recessive form of the disorder characterized by variable degrees of severity of multiple fractures and osteopenia, with normal teeth, sclerae, and hearing. Fractures first occur prenatally or by age 6 years.
Osteogenesis Imperfecta, Type Xiv; Oi14 Is also known as oi, type xiv.
Panel Name, Specifity and genes Tested/covered |
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![]() By Collagen Diagnostic Laboratory University of Washington (United States).
BMP1, SEC24D, SPARC, TNFRSF11B, WNT1, MBTPS2, SERPINH1, XYLT2, NBAS, IFITM5, SP7, FKBP10, CREB3L1, P3H1, COL1A2, CRTAP, TMEM38B, GORAB, TAPT1, ALPL , (...)
View the complete list with 9 more genes
Specificity
4 %
Genes
100 % |
![]() By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).
BMP1, SEC24D, SPARC, WNT1, CASR, SERPINH1, IFITM5, SP7, FKBP10, CREB3L1, P3H1, SLC34A3, COL1A2, CRTAP, TMEM38B, GORAB, DMP1, ENPP1, FGF23, ALPL , (...)
View the complete list with 8 more genes
Specificity
4 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
BMP1, WNT1, SERPINH1, IFITM5, SP7, FKBP10, CREB3L1, P3H1, COL1A2, CRTAP, TMEM38B, SERPINF1, PLOD2, PLS3, PPIB
Specificity
7 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
SCN9A, BMP1, SEC24D, SLC2A2, SPARC, WNT1, MBTPS2, SERPINH1, XYLT2, NBAS, IFITM5, SP7, FKBP10, TENT5A, CREB3L1, P3H1, COL1A2, CRTAP, TMEM38B, TAPT1 , (...)
View the complete list with 6 more genes
Specificity
4 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
SCN9A, BMP1, SEC24D, SLC2A2, SPARC, WNT1, MBTPS2, SERPINH1, XYLT2, NBAS, IFITM5, SP7, FKBP10, TENT5A, CREB3L1, P3H1, SLC34A3, COL1A2, CRTAP, TMEM38B , (...)
View the complete list with 12 more genes
Specificity
4 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
TMEM38B
Specificity
100 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)
View the complete list with 236 more genes
Specificity
1 %
Genes
100 % |
![]() By Connective Tissue Gene Tests (United States).
BMP1, SEC24D, SPARC, WNT1, MBTPS2, SERPINH1, IFITM5, SP7, FKBP10, CREB3L1, P3H1, COL1A2, CRTAP, TMEM38B, TAPT1, ANO5, ALPL, LRP5, P4HB, SERPINF1 , (...)
View the complete list with 3 more genes
Specificity
5 %
Genes
100 % |
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