Osteogenesis Imperfecta, Type Ix; Oi9
Description
Osteogenesis imperfecta is a connective tissue disorder characterized clinically by bone fragility and increased susceptibility to fractures. Osteogenesis imperfecta type IX is a severe autosomal recessive form of the disorder (summary by van Dijk et al., 2009).
Clinical Features
Top most frequent phenotypes and symptoms related to Osteogenesis Imperfecta, Type Ix; Oi9
- Scoliosis
- Growth delay
- Macrocephaly
- Kyphosis
- Pectus excavatum
- Osteoporosis
- Kyphoscoliosis
- Pectus carinatum
- Joint hypermobility
- Recurrent fractures
And another 10 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 Ix; Oi9 Is also known as oi, type ix.
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 Ix; Oi9 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
PPIB Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
PPIB
Specificity
100 %
Genes
100 % |
PPIB Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
PPIB
Specificity
100 %
Genes
100 % |
PPIB Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
PPIB
Specificity
100 %
Genes
100 % |
PPIB Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
PPIB
Specificity
100 %
Genes
100 % |
Low Bone Mass Panel (MitomeNGS).
By Baylor Miraca Genetics Laboratories (United States).
SLC34A1, SLC9A3R1, TNFRSF11A, TNFRSF11B, IFITM5, SP7, FKBP10, P3H1, SLC39A13, COL1A2, COL3A1, COL5A1, COL5A2, CRTAP, FBN1, ALPL, SERPINF1, PLOD2, PLOD3, PPIB , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
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 % |
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication.
By ARUP Laboratories, Molecular Genetics and Genomics (United States).
RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...)
View the complete list with 17 more genes
Specificity
3 %
Genes
100 % |
You can get up to 40 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
MESH OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14