Osteogenesis Imperfecta, Type Xvi; Oi16
Description
Osteogenesis imperfecta type XVI (OI16) is characterized by prenatal onset of multiple fractures of ribs and long bones, blue sclerae, decreased ossification of the skull, and severe demineralization. Heterozygous family members may exhibit recurrent fractures with minimal trauma, osteopenia, and blue sclerae (Keller et al., 2018; Lindahl et al., 2018).
Clinical Features
Top most frequent phenotypes and symptoms related to Osteogenesis Imperfecta, Type Xvi; Oi16
- Short stature
- Hearing impairment
- Hepatomegaly
- Congestive heart failure
- Constipation
- Osteopenia
- Skeletal dysplasia
- Conductive hearing impairment
- Small for gestational age
- Micromelia
And another 15 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.
Alternative names
Osteogenesis Imperfecta, Type Xvi; Oi16 Is also known as oi, type xvi.
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 Xvi; Oi16 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 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 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 14 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME HYPERLIPIDEMIA, FAMILIAL COMBINED; FCHL CHROMOSOME 16p12.2-p11.2 DELETION SYNDROME, 7.1- TO 8.7-MB CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix; CDG1X JOUBERT SYNDROME 9; JBTS9 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1