Paget Disease Of Bone 5, Juvenile-onset; Pdb5

Description

Paget disease of bone-5 is an autosomal recessive, juvenile-onset form of Paget disease, a disorder of the skeleton resulting from abnormal bone resorption and formation. Clinical manifestations include short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness. There is phenotypic variability, with some patients presenting in infancy, while others present later in childhood (summary by Naot et al., 2014).For discussion of genetic heterogeneity of Paget disease of bone, see {167250}.

Clinical Features

Top most frequent phenotypes and symptoms related to Paget Disease Of Bone 5, Juvenile-onset; Pdb5

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Motor delay
  • Muscle weakness
  • Milia
  • Pain
  • Hypertension
  • Optic atrophy
And another 38 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.


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Paget Disease Of Bone 5, Juvenile-onset; Pdb5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
TNFRSF11B Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

TNFRSF11B
Specificity
100 %
Genes
50 %
TNFRSF11B Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TNFRSF11B
Specificity
100 %
Genes
50 %
TNFRSF11B Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TNFRSF11B
Specificity
100 %
Genes
50 %
TNFRSF11B Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TNFRSF11B
Specificity
100 %
Genes
50 %
Low Bone Mass Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories in United States.

ALPL, FKBP10, B4GALT7, IFITM5, COL1A1, COL1A2, COL3A1, SLC34A1, TNFRSF11A, FBN1, SERPINF1, SP7, PLOD3, SLC39A13, SLC9A3R1, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
100 %
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
50 %
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
100 %
Juvenile Paget Disease via TNFRSF11B Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TNFRSF11B
Specificity
100 %
Genes
50 %
Dense bone dysplasia NGS panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, COL1A1, SOST, TGFB1, TNFRSF11B, GJA1, TBXAS1, LRP4, PTDSS1, HPGD, MTAP, DLX3, SLCO2A1
Specificity
8 %
Genes
50 %
Dense bone dysplasia Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, COL1A1, SOST, TGFB1, TNFRSF11B, GJA1, TBXAS1, LRP4, PTDSS1, HPGD, MTAP, DLX3, SLCO2A1
Specificity
8 %
Genes
50 %
Dense bone dysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, COL1A1, SOST, TGFB1, TNFRSF11B, GJA1, TBXAS1, LRP4, PTDSS1, HPGD, MTAP, DLX3, SLCO2A1
Specificity
8 %
Genes
50 %
Paget disease of bone and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

TNFRSF11A, VCP, SQSTM1, TNFRSF11B, HNRNPA2B1, HNRNPA1, ZNF687
Specificity
29 %
Genes
100 %
Paget disease of bone and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

TNFRSF11A, VCP, SQSTM1, TNFRSF11B, HNRNPA2B1, HNRNPA1, ZNF687
Specificity
29 %
Genes
100 %
Paget disease of bone and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

TNFRSF11A, VCP, SQSTM1, TNFRSF11B, HNRNPA2B1, HNRNPA1, ZNF687
Specificity
29 %
Genes
100 %
Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
8 %
Genes
100 %
Osteopetrosis and Dense bone dysplasia NGS panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
8 %
Genes
100 %
Osteopetrosis and Dense bone dysplasia Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
8 %
Genes
100 %
Paget disease, juvenile.

By Centogene AG - the Rare Disease Company in Germany.

TNFRSF11B
Specificity
100 %
Genes
50 %
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
50 %
Skeletal dysplasia with increased bone density Panel.

By CeGaT GmbH in Germany.

ANKH, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, PTH1R, GJA1, DHCR24, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
8 %
Genes
100 %
Skeletal Dysplasia With Increased Bone Density: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, CTSK, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, FERMT3, TBXAS1, LRP4, GALNT3, HPGD , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
100 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 143 more genes
Specificity
2 %
Genes
100 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 141 more genes
Specificity
2 %
Genes
100 %
TNFRSF11B.

By Fulgent Genetics Fulgent Genetics in United States.

TNFRSF11B
Specificity
100 %
Genes
50 %
PAGET-Complete.

By PentaCoreLab in Hungary.

OPTN, TNFRSF11A, VCP, SQSTM1, TNFSF11, TNFRSF11B, DCSTAMP, CSF1
Specificity
25 %
Genes
100 %
Osteopetrosis and Dense Bone Dysplasia Panel.

By Blueprint Genetics in Finland.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, PTH1R, GJA1, SLC29A3 , (...)

View the complete list with 5 more genes
Specificity
8 %
Genes
100 %
Skeletal Dysplasias Core Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2 , (...)

View the complete list with 91 more genes
Specificity
2 %
Genes
100 %
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
100 %
Skeletal Dysplasia with Abnormal Mineralization Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, B4GALT7, COL1A1, COL1A2, COL3A1, TNFRSF11A, FBN1, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, CYP27B1, PPIB, TNFRSF11B, COL5A1, COL5A2, VDR , (...)

View the complete list with 12 more genes
Specificity
7 %
Genes
100 %
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
100 %
Paget Disease of Bone (Juvenile-Onset) , Sequencing TNFRSF11B Gene.

By Reference Laboratory Genetics in Spain.

TNFRSF11B
Specificity
100 %
Genes
50 %
Paget Disease of Bone , Panel Massive Sequencing (NGS) SQSTM1, TNFRSF11A, TNFRSF11B Genes.

By Reference Laboratory Genetics in Spain.

TNFRSF11A, SQSTM1, TNFRSF11B
Specificity
67 %
Genes
100 %
TNFRSF11A Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

TNFRSF11A
Specificity
100 %
Genes
50 %
TNFRSF11A Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TNFRSF11A
Specificity
100 %
Genes
50 %
TNFRSF11A Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TNFRSF11A
Specificity
100 %
Genes
50 %
TNFRSF11A Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TNFRSF11A
Specificity
100 %
Genes
50 %
TNFRSF11A.

By Institute for Human Genetics University Clinic Freiburg in Germany.

TNFRSF11A
Specificity
100 %
Genes
50 %
Paget Disease of Bone (sequence analysis of TNFRSF11A gene).

By CGC Genetics in Portugal.

TNFRSF11A
Specificity
100 %
Genes
50 %
Osteopetrosis, autosomal recessive 7 (sequence analysis of TNFRSF11A gene).

By CGC Genetics in Portugal.

TNFRSF11A
Specificity
100 %
Genes
50 %
Paget Disease of Bone (PDB) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TNFRSF11A, SQSTM1
Specificity
50 %
Genes
50 %
Paget Disease of Bone, Autosomal Recessive Osteopetrosis, and Familial Expansile Osteolysis via the TNFRSF11A Gene.

By PreventionGenetics PreventionGenetics in United States.

TNFRSF11A
Specificity
100 %
Genes
50 %
Osteopetrosis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

LRP5, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, FERMT3, PLEKHM1, SNX10
Specificity
8 %
Genes
50 %
Osteopetrosis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

LRP5, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, FERMT3, PLEKHM1, SNX10
Specificity
8 %
Genes
50 %
Osteopetrosis NGS panel.

By Connective Tissue Gene Tests in United States.

LRP5, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, FERMT3, PLEKHM1, SNX10
Specificity
8 %
Genes
50 %
Osteopetrosis autosomal recessive type 7.

By Centogene AG - the Rare Disease Company in Germany.

TNFRSF11A
Specificity
100 %
Genes
50 %
OSTEOPETROSIS.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

LRP5, TNFRSF11A, CLCN7, OSTM1, TNFSF11, TCIRG1, PLEKHM1, SNX10
Specificity
13 %
Genes
50 %
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, TNFRSF11A, PYCR1, ATP6V0A2, SP7, P3H1, CRTAP, PLOD2, PPIB, LMNA, CASR, PHEX , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
Paget Disease of Bone NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TNFRSF11A, SQSTM1
Specificity
50 %
Genes
50 %
TNFRSF11A.

By Fulgent Genetics Fulgent Genetics in United States.

TNFRSF11A
Specificity
100 %
Genes
50 %
Osteopetrosis NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

LRP5, TNFRSF11A, CLCN7, CA2, OSTM1, TNFSF11, TCIRG1, PLEKHM1, SNX10
Specificity
12 %
Genes
50 %
TNFRSF11A Gene Sequencing and Deletion/Duplication.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

TNFRSF11A
Specificity
100 %
Genes
50 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
50 %
OSTEOPETROSIS, AUTOSOMAL RECESSIVE.

By Laboratorio de Genetica Clinica SL in Spain.

TNFRSF11A, CLCN7, CA2, OSTM1, TNFSF11, TCIRG1, PLEKHM1, SNX10
Specificity
13 %
Genes
50 %
Autosomal Recessive Malignant Osteopetrosis Type 7 , Sequencing TNFRSF11A Gene.

By Reference Laboratory Genetics in Spain.

TNFRSF11A
Specificity
100 %
Genes
50 %
Paget Disease of Bone , Sequencing TNFRSF11A Gene.

By Reference Laboratory Genetics in Spain.

TNFRSF11A
Specificity
100 %
Genes
50 %
Osteopetrosis , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

LRP5, TNFRSF11A, CLCN7, CA2, OSTM1, TNFSF11, TCIRG1, PLEKHM1, SNX10
Specificity
12 %
Genes
50 %
Osteolysis and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

TYROBP, TNFRSF11A, SQSTM1, TREM2, MMP2, BANF1
Specificity
17 %
Genes
50 %

Alternate names

Paget Disease Of Bone 5, Juvenile-onset; Pdb5 Is also known as juvenile paget disease;jpd, hyperostosis corticalis deformans juvenilis, hyperphosphatasia, familial idiopathic, hyperphosphatasemia, chronic congenital idiopathic, osteoectasia, familial;familial osteoectasia; hereditary hyperphosphatasia; hyperostosis corticalis deformans juvenilis; jpg; juvenile paget's disease.


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