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.
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Osteogenesis Imperfecta, Type Xvi; Oi16 Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 Osteogenesis Imperfecta and Genetic Bone Disorders Panel.
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 % |
|
Osteogenesis Imperfecta & Low Bone Mass Disorders Panel.
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 % |
 Osteogenesis imperfecta (NGS panel for 16 genes).
By CGC Genetics (Portugal).
BMP1, WNT1, SERPINH1, IFITM5, SP7, FKBP10, CREB3L1, P3H1, COL1A2, CRTAP, TMEM38B, SERPINF1, PLOD2, PLS3, PPIB
Specificity
7 %
Genes
100 % |
|
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection.
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 % |
|
Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection.
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 % |
|
Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive.
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 % |
|
Osteogenesis imperfecta Deletion / Duplication panel - Recessive.
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 % |
|
Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive.
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 % |
Sources 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 PARIETAL FORAMINA 2; PFM2 POLYCYSTIC KIDNEY DISEASE 1; PKD1 OTOPALATODIGITAL SYNDROME TYPE 1 BROWN-VIALETTO-VAN LAERE SYNDROME 2; BVVLS2 THROMBOCYTOPENIA 6; THC6 ORNITHINE TRANSCARBAMYLASE DEFICIENCY IMMUNODEFICIENCY 44; IMD44
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