Polycystic Liver Disease 1; Pcld1

Description

Polycystic liver disease-1 is an autosomal dominant condition characterized by the presence of multiple liver cysts of biliary epithelial origin. Although the clinical presentation and histologic features of polycystic liver disease in the presence or absence of autosomal dominant polycystic kidney disease (see, e.g., PKD1, {173900}) are indistinguishable, PCLD1 is a genetically distinct form of isolated polycystic liver disease (summary by Reynolds et al., 2000). Genetic Heterogeneity of Polycystic Liver DiseaseSee also PCLD2 (OMIM ), caused by mutation in the SEC63 gene (OMIM ) on chromosome 6q21.

Clinical Features

Top most frequent phenotypes and symptoms related to Polycystic Liver Disease 1; Pcld1

  • Pica
  • Hepatomegaly
  • Respiratory insufficiency
  • Dilatation
  • Abdominal pain
  • Gastroesophageal reflux
  • Feeding difficulties in infancy
  • Abnormality of the nervous system
  • Abnormality of the liver
  • Abnormality of the kidney
And another 16 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available Polycystic Liver Disease 1; Pcld1 have a estimated prevalence of 1 per 100k worldwide.


Mendelian

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Polycystic Liver Disease 1; Pcld1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Polycystic Liver Disease, ADPLD - PRKCSH, SEC63.

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

PRKCSH, SEC63
Specificity
100 %
Genes
67 %
Polycystic Liver Disease.

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

PRKCSH, SEC63
Specificity
100 %
Genes
67 %
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
18 %
Genes
100 %
SEC63. Complete sequencing.

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

SEC63
Specificity
100 %
Genes
34 %
Polycystic liver disease (sequence analysis of SEC63 gene).

By CGC Genetics in Portugal.

SEC63
Specificity
100 %
Genes
34 %
SEC63-Related Polycystic Liver Disease.

By Laboratory of Gastroenterology and Hepatology Radboud university medical center in Netherlands.

SEC63
Specificity
100 %
Genes
34 %
Isolated Polycystic Liver Disease (PCLD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LRP5, PRKCSH, SEC63
Specificity
100 %
Genes
100 %
Isolated Polycystic Liver Disease (PCLD) via the SEC63 Gene.

By PreventionGenetics PreventionGenetics in United States.

SEC63
Specificity
100 %
Genes
34 %
Polycystic Liver Disease (PLD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LRP5, PKD2, PKD1, PRKCSH, SEC63, GANAB
Specificity
50 %
Genes
100 %
Polycystic liver disease Comprehensive panel.

By Connective Tissue Gene Tests in United States.

LRP5, PKHD1, PKD2, PKD1, PRKCSH, SEC63, GANAB
Specificity
43 %
Genes
100 %
Polycystic liver disease Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

LRP5, PKHD1, PKD2, PKD1, PRKCSH, SEC63, GANAB
Specificity
43 %
Genes
100 %
Polycystic liver disease NGS panel.

By Connective Tissue Gene Tests in United States.

LRP5, PKHD1, PKD2, PKD1, PRKCSH, SEC63, GANAB
Specificity
43 %
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 %
Nephrology Endocrinology and Electrolytes - panels.

By MGZ Medical Genetics Center in Germany.

VHL, ALPL, HNF1A, NEUROD1, EYA1, WT1, HNF1B, RET, OCRL, GCK, COQ9, PDSS2, COQ6, CYP24A1, COQ2, AGXT, SLC3A1, LMX1B, PAX2, GLA , (...)

View the complete list with 97 more genes
Specificity
2 %
Genes
67 %
Polycystic liver, disease: SEC63 gene sequence analysis.

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

SEC63
Specificity
100 %
Genes
34 %
Polycystic Liver Disease: SEC63 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SEC63
Specificity
100 %
Genes
34 %
Polycystic Liver Disease: SEC63 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SEC63
Specificity
100 %
Genes
34 %
SEC63.

By Fulgent Genetics Fulgent Genetics in United States.

SEC63
Specificity
100 %
Genes
34 %
Polycystic Liver Disease Panel.

By Blueprint Genetics in Finland.

LRP5, PKD2, PKD1, PRKCSH, SEC63, GANAB
Specificity
50 %
Genes
100 %
Polycystic Kidney Disease Panel.

By Blueprint Genetics in Finland.

LRP5, JAG1, PKHD1, PKD2, PKD1, PRKCSH, NOTCH2, SEC63, DZIP1L, GANAB
Specificity
30 %
Genes
100 %
Polycystic liver disease.

By Bioarray in Spain.

SEC63
Specificity
100 %
Genes
34 %
Next Generation Sequencing for Jaundice Associated Genes Variation Test.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan.

HFE, ABCB11, ABCB4, ATP7B, ATP8B1, BCS1L, TWNK, INVS, HBB, HNF1B, AMACR, JAG1, POLG, RRM2B, SLC25A13, DGUOK, MPV17, SUCLG1, ASS1, CYP27A1 , (...)

View the complete list with 53 more genes
Specificity
3 %
Genes
67 %
Isolated Polycystic Liver Disease , Sequencing SEC63 Gene.

By Reference Laboratory Genetics in Spain.

SEC63
Specificity
100 %
Genes
34 %
Polycystic Liver Disease: SEC63 Gene Deletion/Duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SEC63
Specificity
100 %
Genes
34 %
Polycystic Liver Disease: SEC63 Gene Sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SEC63
Specificity
100 %
Genes
34 %
PRKCSH Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

PRKCSH
Specificity
100 %
Genes
34 %
Cystic Diseases of the Liver/Kidney Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

PKHD1, PRKCSH
Specificity
50 %
Genes
34 %
PRKCSH Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

PRKCSH
Specificity
100 %
Genes
34 %
PRKCSH. Complete sequencing.

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

PRKCSH
Specificity
100 %
Genes
34 %
Polycystic liver disease (sequence analysis of PRKCSH gene).

By CGC Genetics in Portugal.

PRKCSH
Specificity
100 %
Genes
34 %
PRKCSH-Related Polycystic Liver Disease.

By Laboratory of Gastroenterology and Hepatology Radboud university medical center in Netherlands.

PRKCSH
Specificity
100 %
Genes
34 %
Isolated Polycystic Liver Disease (PCLD) via the PRKCSH Gene.

By PreventionGenetics PreventionGenetics in United States.

PRKCSH
Specificity
100 %
Genes
34 %
Polycystic liver disease.

By Centogene AG - the Rare Disease Company in Germany.

PRKCSH
Specificity
100 %
Genes
34 %
Polycystic liver, disease: PRKCSH gene sequence analysis.

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

PRKCSH
Specificity
100 %
Genes
34 %
Polycystic Liver Disease: PRKCSH Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PRKCSH
Specificity
100 %
Genes
34 %
Polycystic Liver Disease: PRKCSH Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PRKCSH
Specificity
100 %
Genes
34 %
PRKCSH.

By Fulgent Genetics Fulgent Genetics in United States.

PRKCSH
Specificity
100 %
Genes
34 %
Polycystic liver disease.

By Bioarray in Spain.

PRKCSH
Specificity
100 %
Genes
34 %
POLYCYSTIC LIVER DISEASE.

By Laboratorio de Genetica Clinica SL in Spain.

PRKCSH
Specificity
100 %
Genes
34 %
Isolated Polycystic Liver Disease , Sequencing PRKCSH Gene.

By Reference Laboratory Genetics in Spain.

PRKCSH
Specificity
100 %
Genes
34 %
Polycystic Liver Disease: PRKCSH Gene Sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

PRKCSH
Specificity
100 %
Genes
34 %
Polycystic Liver Disease: PRKCSH Gene Deletion/Duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

PRKCSH
Specificity
100 %
Genes
34 %
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
34 %
LRP5 (OPPG) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

LRP5
Specificity
100 %
Genes
34 %
LRP5 Idiopathic Osteoporosis (IOP) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

LRP5
Specificity
100 %
Genes
34 %
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 %
Osteoporosis Pseudoglioma Syndrome.

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

LRP5
Specificity
100 %
Genes
34 %
LRP5. Complete sequencing.

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

LRP5
Specificity
100 %
Genes
34 %
Osteopetrosis autosomal dominant type 1 (sequence analysis of LRP5 gene).

By CGC Genetics in Portugal.

LRP5
Specificity
100 %
Genes
34 %
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
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 %
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
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 %
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
34 %
Exudative vitreoretinopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

LRP5, NDP, TSPAN12, FZD4, ZNF408, KIF11, CAPN5
Specificity
15 %
Genes
34 %
Exudative vitreoretinopathy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

LRP5, NDP, TSPAN12, FZD4, ZNF408, KIF11, CAPN5
Specificity
15 %
Genes
34 %
Exudative vitreoretinopathy NGS panel.

By Connective Tissue Gene Tests in United States.

LRP5, NDP, TSPAN12, FZD4, ZNF408, KIF11, CAPN5
Specificity
15 %
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 %
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
34 %
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
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 %
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
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 %
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
34 %
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
34 %
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
34 %
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
34 %
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
34 %
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
34 %
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
34 %
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
34 %
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
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 %
Exudative vitreoretinopathy 4 NGS test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
34 %
Exudative vitreoretinopathy 4 Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
34 %
Osteopetrosis, autosomal dominant 1 Comprehensive test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
34 %
Osteoporosis-pseudoglioma syndrome Comprehensive test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
34 %
Osteoporosis-pseudoglioma syndrome NGS test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
34 %
Exudative vitreoretinopathy 4 Comprehensive test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
34 %
Osteopetrosis, autosomal dominant 1 Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
34 %
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
34 %
Van Buchem disease, type 2 NGS test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
34 %
Osteoporosis-pseudoglioma syndrome Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
34 %
Van Buchem disease, type 2 Comprehensive test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
34 %
Osteopetrosis, autosomal dominant 1 NGS test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
34 %
Van Buchem disease, type 2 Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
34 %
Hyperostosis corticalis generalisata, benign form of worth, with torus palatinus NGS test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
Genes
34 %
Hyperostosis corticalis generalisata, benign form of worth, with torus palatinus Comprehensive test.

By Connective Tissue Gene Tests in United States.

LRP5
Specificity
100 %
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 %
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
34 %
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
34 %
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
34 %
Osteoporosis pseudoglioma syndrome.

By Centogene AG - the Rare Disease Company in Germany.

LRP5
Specificity
100 %
Genes
34 %
Vitreoretinopathy and Wagner syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

LRP5, COL2A1, NDP, TSPAN12, FZD4, VCAN
Specificity
17 %
Genes
34 %
Familial Exudative Vitreoretinopathy and Wagner syndrome Panel.

By CeGaT GmbH in Germany.

LRP5, COL2A1, NDP, TSPAN12, FZD4, ZNF408, VCAN, CAPN5
Specificity
13 %
Genes
34 %
Single gene testing LRP5.

By CeGaT GmbH in Germany.

LRP5
Specificity
100 %
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 %
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
34 %
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
34 %
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
34 %
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
34 %
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
34 %
FEVR Panel.

By Molecular Vision Laboratory in United States.

LRP5, NDP, TSPAN12, FZD4, ZNF408
Specificity
20 %
Genes
34 %
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
34 %
Exudative vitreoretinopathy 4.

By Praxis fuer Humangenetik Wien in Austria.

LRP5
Specificity
100 %
Genes
34 %
Hyperostosis, endosteal.

By Praxis fuer Humangenetik Wien in Austria.

LRP5
Specificity
100 %
Genes
34 %
Osteopetrosis, autosomal dominant 1.

By Praxis fuer Humangenetik Wien in Austria.

LRP5
Specificity
100 %
Genes
34 %
van Buchem disease, type 2.

By Praxis fuer Humangenetik Wien in Austria.

LRP5
Specificity
100 %
Genes
34 %
Exudative vitreoretinopathy 4.

By MedGene in Slovakia.

LRP5
Specificity
100 %
Genes
34 %
Hyperostosis, endosteal.

By MedGene in Slovakia.

LRP5
Specificity
100 %
Genes
34 %
Osteopetrosis, autosomal dominant 1.

By MedGene in Slovakia.

LRP5
Specificity
100 %
Genes
34 %
van Buchem disease, type 2.

By MedGene in Slovakia.

LRP5
Specificity
100 %
Genes
34 %
Exudative vitreoretinopahty, Familial: LRP5 gene sequence analysis.

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

LRP5
Specificity
100 %
Genes
34 %
Osteopetrosis autosomal dominant: LRP5 gene sequence analysis.

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

LRP5
Specificity
100 %
Genes
34 %
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
34 %
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
34 %
OSTEOPETROSIS.

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

LRP5, TNFRSF11A, CLCN7, OSTM1, TNFSF11, TCIRG1, PLEKHM1, SNX10
Specificity
13 %
Genes
34 %
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
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 %
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
34 %
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
34 %
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
34 %
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
34 %
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
34 %
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
34 %
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
34 %
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
34 %
Vitreoretinopathy and Wagner Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

LRP5, COL2A1, NDP, TSPAN12, FZD4, VCAN
Specificity
17 %
Genes
34 %
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
34 %
LRP5.

By Fulgent Genetics Fulgent Genetics in United States.

LRP5
Specificity
100 %
Genes
34 %
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
34 %
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
34 %
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
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 %
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
34 %
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
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 %
Exudative vitreoretinopathy type 4.

By Bioarray in Spain.

LRP5
Specificity
100 %
Genes
34 %
Secuenciaci���³n.

By Bioarray in Spain.

LRP5
Specificity
100 %
Genes
34 %
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
34 %
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
34 %
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
34 %
EXUDATIVE VITREORETINOPATHY (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

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

By Laboratorio de Genetica Clinica SL in Spain.

LRP5, SOST
Specificity
50 %
Genes
34 %
HYPEROSTOSIS, ENDOSTEAL (WORTH TYPE).

By Laboratorio de Genetica Clinica SL in Spain.

LRP5
Specificity
100 %
Genes
34 %
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

LRP5
Specificity
100 %
Genes
34 %
Autosomal Dominant Osteopetrosis , Sequencing LRP5 Gene.

By Reference Laboratory Genetics in Spain.

LRP5
Specificity
100 %
Genes
34 %
Osteoporosis-Pseudoglioma Syndrome , Sequencing LRP5 Gene.

By Reference Laboratory Genetics in Spain.

LRP5
Specificity
100 %
Genes
34 %
Familial Exudative Vitreoretinopathy , Sequencing LRP5 Gene.

By Reference Laboratory Genetics in Spain.

LRP5
Specificity
100 %
Genes
34 %
Familial Exudative Vitreoretinopathy , Deletions-Duplications (MLPA) NDP,LRP5,FZD4 Genes.

By Reference Laboratory Genetics in Spain.

LRP5, NDP, FZD4
Specificity
34 %
Genes
34 %
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
34 %
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
34 %
Osteoporosis Susceptibility to , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

LRP5, COL1A1, COL1A2, VDR, CALCR
Specificity
20 %
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
34 %

Alternate names

Polycystic Liver Disease 1; Pcld1 Is also known as ;adpcld; autosomal dominant polycystic liver disease; pcld.



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