Osteogenesis Imperfecta, Type Xvii; Oi17
Clinical Features
Top most frequent phenotypes and symptoms related to Osteogenesis Imperfecta, Type Xvii; Oi17
- Short stature
- Generalized hypotonia
- Scoliosis
- Muscle weakness
- Muscular hypotonia
- Delayed speech and language development
- Motor delay
- Kyphosis
- Osteoporosis
- Kyphoscoliosis
And another 11 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Osteogenesis Imperfecta, Type Xvii; Oi17 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() 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 PreventionGenetics PreventionGenetics (United States).
SPARC, TGFBR1, TGFBR2, TNFRSF1A, TNXB, C1R, C1S, LZTS1, ADAMTSL2, B3GALT6, ATP6V0A2, FKBP14, RIN2, CHST3, SLC39A13, DSE, ADAMTS2, COL12A1, COL1A2, COL3A1 , (...)
View the complete list with 24 more genes
Specificity
3 %
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 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 % |
![]() By Connective Tissue Gene Tests (United States).
BMP1, SEC24D, SPARC, WNT1, MBTPS2, SERPINH1, SP7, FKBP10, CREB3L1, P3H1, CRTAP, TMEM38B, TAPT1, ALPL, LRP5, SERPINF1, PLOD2, PLS3, PPIB
Specificity
6 %
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 % |
You can get up to 11 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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