Osteoporosis, Juvenile

Description

Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.

Clinical Features

Top most frequent phenotypes and symptoms related to Osteoporosis, Juvenile

  • Pain
  • Gait disturbance
  • Kyphosis
  • Osteoporosis
  • Recurrent fractures
  • Bone pain
  • Hypercalciuria
  • Pathologic fracture
  • Hyperparathyroidism
  • Vertebral compression fractures
And another 2 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Osteoporosis, Juvenile Recommended genes panels

Panel Name, Specifity and genes Tested/covered
WNT3A.

By Fulgent Genetics Fulgent Genetics in United States.

WNT3A
Specificity
100 %
Genes
34 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
67 %
Osteogenesis Imperfecta and Genetic Bone Disorders Panel.

By Collagen Diagnostic Laboratory University of Washington in United States.

ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, PLOD3, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, MBTPS2, PLS3, TAPT1, SPARC, XYLT2 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
34 %
Osteogenesis Imperfecta & Low Bone Mass Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, CASR, PHEX, FGF23, PLS3, SPARC, TMEM38B, BMP1, WNT1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
34 %
Osteogenesis imperfecta (NGS panel for 16 genes).

By CGC Genetics in Portugal.

FKBP10, IFITM5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PLS3, TMEM38B, BMP1, WNT1, SERPINH1, CREB3L1
Specificity
7 %
Genes
34 %
Osteogenesis Imperfecta via WNT1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

WNT1
Specificity
100 %
Genes
34 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
34 %
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PLS3, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1
Specificity
6 %
Genes
34 %
Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, CYP27B1, PPIB, PHEX, FGF23, PLS3, TMEM38B, BMP1, WNT1, SERPINH1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
34 %
Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
34 %
Osteogenesis imperfecta Deletion / Duplication panel - Recessive.

By Connective Tissue Gene Tests in United States.

ALPL, FKBP10, LRP5, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1
Specificity
6 %
Genes
34 %
Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
34 %
Osteogenesis imperfecta NGS panel - Recessive.

By Connective Tissue Gene Tests in United States.

ALPL, FKBP10, LRP5, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1
Specificity
6 %
Genes
34 %
Osteogenesis imperfecta Comprehensive panel - Recessive.

By Connective Tissue Gene Tests in United States.

ALPL, FKBP10, LRP5, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1
Specificity
6 %
Genes
34 %
Osteogenesis imperfecta NGS panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
34 %
WNT1-related osteogenesis imperfecta.

By Institute of Human Genetics Cologne University in Germany.

WNT1
Specificity
100 %
Genes
34 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
34 %
Osteogenesis imperfecta and osteoporosis - different panels.

By Institute of Human Genetics Cologne University in Germany.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, PLS3, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
34 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
34 %
Chondrodysplasia punctata Panel.

By CeGaT GmbH in Germany.

FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, PYCR1, ATP6V0A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, ANO5, PLS3, TMEM38B, BMP1, WNT1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
34 %
WNT1 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

WNT1
Specificity
100 %
Genes
34 %
OI panel 2.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

FKBP10, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, MBTPS2, TAPT1, SPARC, XYLT2, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, P4HB, CREB3L1, B3GALT6
Specificity
6 %
Genes
34 %
NGS panel - Osteogenesis Imperfecta and related disorders.

By Genome Diagnostics VU University Medical Center in Netherlands.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PLS3, TAPT1, TMEM38B, BMP1, WNT1, SERPINH1, CREB3L1
Specificity
6 %
Genes
34 %
WNT1.

By Fulgent Genetics Fulgent Genetics in United States.

WNT1
Specificity
100 %
Genes
34 %
Osteogenesis Imperfecta Panel.

By Blueprint Genetics in Finland.

ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PHEX, FGF23, MBTPS2, PLS3, SPARC, TMEM38B, BMP1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
34 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
34 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
34 %
Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel.

By Insight Medical Genetics in United States.

ALPL, FKBP10, IFITM5, COL2A1, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, AGPS, PPIB, FGFR3, FGFR2, PEX7, SLC26A2, FGFR1, COL11A1, TWIST1 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
34 %
CNS Tumor Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

PTEN, TP53, WT1, RB1, SHH, IDH2, BRAF, KRAS, FGFR2, PTCH1, NF2, SUFU, CDKN2A, MET, NTRK1, NF1, FGFR1, SETD2, ATRX, MED12 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
34 %
OSTEOGENESIS IMPERFECTA (AUTOSOMAL RECESSIVE).

By Laboratorio de Genetica Clinica SL in Spain.

FKBP10, SERPINF1, SP7, P3H1, CRTAP, PPIB, BMP1, WNT1, SERPINH1
Specificity
12 %
Genes
34 %
Osteogenesis Imperfecta Type XV , Sequencing WNT1 Gene.

By Reference Laboratory Genetics in Spain.

WNT1
Specificity
100 %
Genes
34 %

Alternate names

Osteoporosis, Juvenile Is also known as idiopathic juvenile osteoporosis;ijo;ijo; juvenile osteoporosis.



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