Osteogenesis Imperfecta, Type X; Oi10

Description

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type X is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclera (Christiansen et al., 2010).

Clinical Features

Top most frequent phenotypes and symptoms related to Osteogenesis Imperfecta, Type X; Oi10

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Macrocephaly
  • Respiratory distress
  • Malar flattening
  • Midface retrusion
  • Inguinal hernia

And another 32 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 X; Oi10 Is also known as oi, type x.

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 X; Oi10 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 %
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 %
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal.

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 %
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, autosomal recessive-SERPINH1.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom).

SERPINH1
Specificity
100 %
Genes
100 %
Osteogenesis imperfecta type X (sequence analysis of SERPINH1 gene).

By CGC Genetics (Portugal).

SERPINH1
Specificity
100 %
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 via SERPINH1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SERPINH1
Specificity
100 %
Genes
100 %

You can get up to 31 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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