Osteogenesis Imperfecta, Type Xvi; Oi16

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).

Genes related to Osteogenesis Imperfecta, Type Xvi; Oi16

CREB3L1

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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.

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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
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 Panel complete gene list BMP1, SEC24D, SPARC, TNFRSF11B, WNT1, MBTPS2, SERPINH1, XYLT2, NBAS, IFITM5, SP7, FKBP10, CREB3L1, P3H1, COL1A2, CRTAP, TMEM38B, GORAB, TAPT1, ALPL, LRP5, P4HB, SERPINF1, PLOD2, PLOD3, PLS3, B3GAT3, PPIB, B4GALT7 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 Panel complete gene list BMP1, SEC24D, SPARC, WNT1, CASR, SERPINH1, IFITM5, SP7, FKBP10, CREB3L1, P3H1, SLC34A3, COL1A2, CRTAP, TMEM38B, GORAB, DMP1, ENPP1, FGF23, ALPL, LRP5, NOTCH2, P4HB, SERPINF1, PHEX, PLOD2, PLS3, PPIB 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 Panel complete gene list SCN9A, BMP1, SEC24D, SLC2A2, SPARC, WNT1, MBTPS2, SERPINH1, XYLT2, NBAS, IFITM5, SP7, FKBP10, TENT5A, CREB3L1, P3H1, COL1A2, CRTAP, TMEM38B, TAPT1, ALPL, LRP5, SERPINF1, PLOD2, PLS3, PPIB 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 Panel complete gene list SCN9A, BMP1, SEC24D, SLC2A2, SPARC, WNT1, MBTPS2, SERPINH1, XYLT2, NBAS, IFITM5, SP7, FKBP10, TENT5A, CREB3L1, P3H1, SLC34A3, COL1A2, CRTAP, TMEM38B, CYP27B1, TAPT1, DMP1, ENPP1, FGF23, ALPL, LRP5, SERPINF1, PHEX, PLOD2, PLS3, PPIB 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 Panel complete gene list BMP1, SEC24D, SPARC, WNT1, MBTPS2, SERPINH1, IFITM5, SP7, FKBP10, CREB3L1, P3H1, COL1A2, CRTAP, TMEM38B, TAPT1, ANO5, ALPL, LRP5, P4HB, SERPINF1, PLOD2, PLS3, PPIB 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 Panel complete gene list BMP1, SEC24D, SPARC, WNT1, MBTPS2, SERPINH1, IFITM5, SP7, FKBP10, CREB3L1, P3H1, COL1A2, CRTAP, TMEM38B, TAPT1, ANO5, ALPL, LRP5, P4HB, SERPINF1, PLOD2, PLS3, PPIB Specificity 5 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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