Osteopetrosis, Autosomal Dominant 1; Opta1

Description

The osteopetroses are a heterogeneous group of genetic disorders characterized by increased bone density due to impaired bone resorption by osteoclasts. Autosomal dominant osteopetrosis-1 is characterized by generalized osteosclerosis most pronounced in the cranial vault. Patients are often asymptomatic, but some suffer from pain and hearing loss. It appears to be the only type of osteopetrosis not associated with an increased fracture rate.Autosomal dominant osteopetrosis-2 (OPTA2 ) is characterized by sclerosis predominantly involving the spine, the pelvis, and the skull base. Fragility of bones and dental abscess are leading complications. Genetic Heterogeneity of Autosomal Dominant OsteopetrosisAutosomal dominant osteopetrosis-2 (OPTA2 ) is caused by mutation in the CLCN7 gene (OMIM ) on chromosome 16p13.

Clinical Features

Phenotypes and symptoms related to Osteopetrosis, Autosomal Dominant 1; Opta1

  • Headache
  • Conductive hearing impairment
  • Increased bone mineral density
  • Abnormality of pelvic girdle bone morphology
  • Abnormality of the vertebral column
  • Thickened calvaria
  • Osteopetrosis
  • Generalized osteosclerosis

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Osteopetrosis, Autosomal Dominant 1; Opta1 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 %
LRP5 (OPPG) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

LRP5
Specificity
100 %
Genes
100 %
LRP5 Idiopathic Osteoporosis (IOP) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

LRP5
Specificity
100 %
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
100 %
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
100 %
Osteoporosis Pseudoglioma Syndrome.

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

LRP5
Specificity
100 %
Genes
100 %
Polycystic kidney and liver disease modifier panel.

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

LRP5, HNF1B, ALG8, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, PRKCSH, REN, SEC63, SEC61B, DNAJB11, DZIP1L, SEC61A1, GANAB
Specificity
6 %
Genes
100 %
LRP5. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

LRP5
Specificity
100 %
Genes
100 %
Osteopetrosis autosomal dominant type 1 (sequence analysis of LRP5 gene).

By CGC Genetics in Portugal.

LRP5
Specificity
100 %
Genes
100 %
Isolated Polycystic Liver Disease (PCLD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LRP5, PRKCSH, SEC63
Specificity
34 %
Genes
100 %
Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LRP5, COL2A1, ATP6V0A2, NDP, TSPAN12, FZD4, ISPD, CTNNB1, ZNF408, KIF11, RCBTB1, VCAN, ATOH7, CAPN5
Specificity
8 %
Genes
100 %
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 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
100 %
Polycystic Liver Disease (PLD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LRP5, PKD2, PKD1, PRKCSH, SEC63, GANAB
Specificity
17 %
Genes
100 %
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
100 %
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
100 %
Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

VHL, INVS, LRP5, HNF1B, JAG1, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, IQCB1, PAX2, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, COL4A1, OFD1 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Exudative vitreoretinopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

LRP5, NDP, TSPAN12, FZD4, ZNF408, KIF11, CAPN5
Specificity
15 %
Genes
100 %
Exudative vitreoretinopathy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

LRP5, NDP, TSPAN12, FZD4, ZNF408, KIF11, CAPN5
Specificity
15 %
Genes
100 %
Exudative vitreoretinopathy NGS panel.

By Connective Tissue Gene Tests in United States.

LRP5, NDP, TSPAN12, FZD4, ZNF408, KIF11, CAPN5
Specificity
15 %
Genes
100 %
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
100 %
Polycystic kidney disease and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

INVS, LRP5, HNF1B, NPHP3, ALG9, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, OFD1, TMEM231, GLIS3, ATP6V0A4, NOTCH2, ZNF423, ANKS6, MUC1, SEC61A1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Vitreoretinopathy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, CAPN5
Specificity
6 %
Genes
100 %
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
100 %
Polycystic liver disease Comprehensive panel.

By Connective Tissue Gene Tests in United States.

LRP5, PKHD1, PKD2, PKD1, PRKCSH, SEC63, GANAB
Specificity
15 %
Genes
100 %
Vitreoretinopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, CAPN5
Specificity
6 %
Genes
100 %
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
100 %
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
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
4 %
Genes
100 %
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
100 %
Polycystic liver disease Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

LRP5, PKHD1, PKD2, PKD1, PRKCSH, SEC63, GANAB
Specificity
15 %
Genes
100 %
Polycystic kidney disease and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

INVS, LRP5, HNF1B, NPHP3, ALG9, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, OFD1, TMEM231, GLIS3, ATP6V0A4, NOTCH2, ZNF423, ANKS6, MUC1, SEC61A1 , (...)

View the complete list with 2 more genes
Specificity
5 %
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
4 %
Genes
100 %
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
100 %
Polycystic liver disease NGS panel.

By Connective Tissue Gene Tests in United States.

LRP5, PKHD1, PKD2, PKD1, PRKCSH, SEC63, GANAB
Specificity
15 %
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
4 %
Genes
100 %
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
100 %
Vitreoretinopathy NGS panel.

By Connective Tissue Gene Tests in United States.

BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, CAPN5
Specificity
6 %
Genes
100 %
Polycystic kidney disease and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

INVS, LRP5, HNF1B, NPHP3, ALG9, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, OFD1, TMEM231, GLIS3, ATP6V0A4, NOTCH2, ZNF423, ANKS6, MUC1, SEC61A1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
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
100 %
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
100 %
Exudative vitreoretinopathy 4 NGS test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
100 %
Exudative vitreoretinopathy 4 Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
100 %
Osteopetrosis, autosomal dominant 1 Comprehensive test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
100 %
Osteoporosis-pseudoglioma syndrome Comprehensive test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
100 %
Osteoporosis-pseudoglioma syndrome NGS test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
100 %
Exudative vitreoretinopathy 4 Comprehensive test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
100 %
Osteopetrosis, autosomal dominant 1 Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
100 %
Hyperostosis corticalis generalisata, benign form of worth, with torus palatinus Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
100 %
Van Buchem disease, type 2 NGS test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
100 %
Osteoporosis-pseudoglioma syndrome Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
100 %
Van Buchem disease, type 2 Comprehensive test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
100 %
Osteopetrosis, autosomal dominant 1 NGS test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
100 %
Van Buchem disease, type 2 Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
100 %
Hyperostosis corticalis generalisata, benign form of worth, with torus palatinus NGS test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
100 %
Hyperostosis corticalis generalisata, benign form of worth, with torus palatinus Comprehensive test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
100 %
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
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)

View the complete list with 147 more genes
Specificity
1 %
Genes
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
Osteoporosis pseudoglioma syndrome.

By Centogene AG - the Rare Disease Company in Germany.

LRP5
Specificity
100 %
Genes
100 %
Vitreoretinopathy and Wagner syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

LRP5, COL2A1, NDP, TSPAN12, FZD4, VCAN
Specificity
17 %
Genes
100 %
Familial Exudative Vitreoretinopathy and Wagner syndrome Panel.

By CeGaT GmbH in Germany.

LRP5, COL2A1, NDP, TSPAN12, FZD4, ZNF408, VCAN, CAPN5
Specificity
13 %
Genes
100 %
Single gene testing LRP5.

By CeGaT GmbH in Germany.

LRP5
Specificity
100 %
Genes
100 %
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
100 %
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
4 %
Genes
100 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Vitreoretinopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

BEST1, LRP5, COL2A1, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, CAPN5, NDP-AS1
Specificity
6 %
Genes
100 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1 , (...)

View the complete list with 267 more genes
Specificity
1 %
Genes
100 %
Vitreoretinopathy panel.

By Molecular Vision Laboratory in United States.

LRP5, COL2A1, NDP, KCNJ13, TSPAN12, FZD4, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, ATOH7, CAPN5
Specificity
6 %
Genes
100 %
FEVR Panel.

By Molecular Vision Laboratory in United States.

LRP5, NDP, TSPAN12, FZD4, ZNF408
Specificity
20 %
Genes
100 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 248 more genes
Specificity
1 %
Genes
100 %
Exudative vitreoretinopathy 4.

By Praxis fuer Humangenetik Wien in Austria.

LRP5
Specificity
100 %
Genes
100 %
Hyperostosis, endosteal.

By Praxis fuer Humangenetik Wien in Austria.

LRP5
Specificity
100 %
Genes
100 %
Osteopetrosis, autosomal dominant 1.

By Praxis fuer Humangenetik Wien in Austria.

LRP5
Specificity
100 %
Genes
100 %
van Buchem disease, type 2.

By Praxis fuer Humangenetik Wien in Austria.

LRP5
Specificity
100 %
Genes
100 %
Exudative vitreoretinopathy 4.

By MedGene in Slovakia.

LRP5
Specificity
100 %
Genes
100 %
Hyperostosis, endosteal.

By MedGene in Slovakia.

LRP5
Specificity
100 %
Genes
100 %
Osteopetrosis, autosomal dominant 1.

By MedGene in Slovakia.

LRP5
Specificity
100 %
Genes
100 %
van Buchem disease, type 2.

By MedGene in Slovakia.

LRP5
Specificity
100 %
Genes
100 %
Exudative vitreoretinopahty, Familial: LRP5 gene sequence analysis.

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

LRP5
Specificity
100 %
Genes
100 %
Osteopetrosis autosomal dominant: LRP5 gene sequence analysis.

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

LRP5
Specificity
100 %
Genes
100 %
Familial exudative vitreoretinopathy: LRP5, NDP, FZD4 genes deletions-duplications analysis (MLPA).

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

LRP5, NDP, FZD4
Specificity
34 %
Genes
100 %
OSTEOGENESIS IMPERFECTA.

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

FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, BMP1, SERPINH1
Specificity
8 %
Genes
100 %
OSTEOPETROSIS.

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

LRP5, TNFRSF11A, CLCN7, OSTM1, TNFSF11, TCIRG1, PLEKHM1, SNX10
Specificity
13 %
Genes
100 %
Vitreoretinopathy and Wagner syndrome.

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

LRP5, COL2A1, NDP, TSPAN12, FZD4, VCAN
Specificity
17 %
Genes
100 %
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
100 %
Eye Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, RP1, GPR143 , (...)

View the complete list with 190 more genes
Specificity
1 %
Genes
100 %
Vitreoretinopathy: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

LRP5, COL2A1, NDP, KCNJ13, TSPAN12, FZD4, COL9A1, COL11A1, VCAN
Specificity
12 %
Genes
100 %
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
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
5 %
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
1 %
Genes
100 %
Retina/Photoreceptor Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZNF513, AIPL1, BEST1, SPATA7, LRP5, COL2A1, PAX6, CHM, RP1, OPA1, ELOVL4, ABCA4, CACNA1F, NDP, OTX2, CNGB3, KCNJ13, CEP290, CLRN1, TTC8 , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
100 %
Eye Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, PDZD7, RP1 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
Vitreoretinopathy and Wagner Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

LRP5, COL2A1, NDP, TSPAN12, FZD4, VCAN
Specificity
17 %
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
1 %
Genes
100 %
LRP5.

By Fulgent Genetics Fulgent Genetics in United States.

LRP5
Specificity
100 %
Genes
100 %
Polycystic Liver Disease Panel.

By Blueprint Genetics in Finland.

LRP5, PKD2, PKD1, PRKCSH, SEC63, GANAB
Specificity
17 %
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
4 %
Genes
100 %
Cystic Kidney Disease Panel.

By Blueprint Genetics in Finland.

VHL, INVS, EYA1, LRP5, HNF1B, JAG1, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, IQCB1, PAX2, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, COL4A1 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 240 more genes
Specificity
1 %
Genes
100 %
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
100 %
Polycystic Kidney Disease Panel.

By Blueprint Genetics in Finland.

LRP5, JAG1, PKHD1, PKD2, PKD1, PRKCSH, NOTCH2, SEC63, DZIP1L, GANAB
Specificity
10 %
Genes
100 %
Vitreoretinopathy Panel.

By Blueprint Genetics in Finland.

BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CTNNB1, ZNF408, KIF11, CTC1, COL18A1, VCAN , (...)

View the complete list with 3 more genes
Specificity
5 %
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
1 %
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 %
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 %
Exudative vitreoretinopathy type 4.

By Bioarray in Spain.

LRP5
Specificity
100 %
Genes
100 %
Secuenciaci���³n.

By Bioarray in Spain.

LRP5
Specificity
100 %
Genes
100 %
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
100 %
Osteopetrosis, Autosomal Dominant Only NGS and Deletion/Duplication Panel.

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

LRP5, CLCN7
Specificity
50 %
Genes
100 %
LRP5 Gene Sequencing and Deletion/Duplication Analysis.

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

LRP5
Specificity
100 %
Genes
100 %
EXUDATIVE VITREORETINOPATHY (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

LRP5, TSPAN12, FZD4
Specificity
34 %
Genes
100 %
HYPEROSTOSIS CORTICALIS GENERALISATA (VAN BUCHEM DISEASE).

By Laboratorio de Genetica Clinica SL in Spain.

LRP5, SOST
Specificity
50 %
Genes
100 %
HYPEROSTOSIS, ENDOSTEAL (WORTH TYPE).

By Laboratorio de Genetica Clinica SL in Spain.

LRP5
Specificity
100 %
Genes
100 %
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

LRP5
Specificity
100 %
Genes
100 %
Autosomal Dominant Osteopetrosis , Sequencing LRP5 Gene.

By Reference Laboratory Genetics in Spain.

LRP5
Specificity
100 %
Genes
100 %
Osteoporosis-Pseudoglioma Syndrome , Sequencing LRP5 Gene.

By Reference Laboratory Genetics in Spain.

LRP5
Specificity
100 %
Genes
100 %
Familial Exudative Vitreoretinopathy , Sequencing LRP5 Gene.

By Reference Laboratory Genetics in Spain.

LRP5
Specificity
100 %
Genes
100 %
Familial Exudative Vitreoretinopathy , Deletions-Duplications (MLPA) NDP,LRP5,FZD4 Genes.

By Reference Laboratory Genetics in Spain.

LRP5, NDP, FZD4
Specificity
34 %
Genes
100 %
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
100 %
Familial Exudative Vitreoretinopathy and Wagner Syndrome , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

LRP5, NDP, TSPAN12, FZD4, VCAN
Specificity
20 %
Genes
100 %
Osteoporosis Susceptibility to , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

LRP5, COL1A1, COL1A2, VDR, CALCR
Specificity
20 %
Genes
100 %
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
100 %

Alternate names

Osteopetrosis, Autosomal Dominant 1; Opta1 Is also known as osteopetrosis, autosomal dominant, type i;.


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