LRP5 gene related symptoms and diseases
All the information presented here about the LRP5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to LRP5 gene
Symptoms // Phenotype | % Cases |
---|---|
Blindness | Uncommon - Between 30% and 50% cases |
Increased bone mineral density | Uncommon - Between 30% and 50% cases |
Vitreous hemorrhage | Rare - less than 30% cases |
Hearing impairment | Rare - less than 30% cases |
Vitreoretinopathy | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with LRP5 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Hyperostosis
- Elevated alkaline phosphatase
- Facial palsy
- Generalized osteosclerosis
- Headache
- Thickened cortex of long bones
- Thickened calvaria
- Mandibular prognathia
And 131 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to LRP5 gene
Here you will find a list of rare diseases related to the LRP5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
RETINOPATHY OF PREMATURITY
Alternate names
RETINOPATHY OF PREMATURITY Is also known as retrolental fibroplasia, rop
Description
Retinopathy of prematurity (ROP) is a rare retinal vasoproliferative disorder affecting preterm infants characterized initially by a delay in physiologic retinal vascular development, and subsequently by aberrant angiogenesis in the form of intravitreal neovascularization.
Most common symptoms of RETINOPATHY OF PREMATURITY
- Blindness
- Small for gestational age
- Premature birth
- Abnormality of the retinal vasculature
- Vitreous hemorrhage
More info about RETINOPATHY OF PREMATURITY
SOURCES: ORPHANET
FAMILIAL EXUDATIVE VITREORETINOPATHY
Alternate names
FAMILIAL EXUDATIVE VITREORETINOPATHY Is also known as fevr, autosomal dominant, criswick-schepens syndrome, exudative vitreoretinopathy, familial, autosomal dominant, fevr
Description
Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.
Most common symptoms of FAMILIAL EXUDATIVE VITREORETINOPATHY
- Microcephaly
- Cataract
- Blindness
- Glaucoma
- Reduced visual acuity
More info about FAMILIAL EXUDATIVE VITREORETINOPATHY
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
Alternate names
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME Is also known as oppg, osteogenesis imperfecta, ocular form, ocular form of osteogenesis imperfecta, ops
Description
Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.
Most common symptoms of OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
More info about OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
VAN BUCHEM DISEASE, TYPE 2
Alternate names
VAN BUCHEM DISEASE, TYPE 2 Is also known as vbch2
Most common symptoms of VAN BUCHEM DISEASE, TYPE 2
- Mandibular prognathia
- Thickened calvaria
- Thickened cortex of long bones
More info about VAN BUCHEM DISEASE, TYPE 2
SOURCES: OMIM
AUTOSOMAL DOMINANT OSTEOPETROSIS TYPE 1
Alternate names
AUTOSOMAL DOMINANT OSTEOPETROSIS TYPE 1 Is also known as osteopetrosis, autosomal dominant, type i
Description
Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
Most common symptoms of AUTOSOMAL DOMINANT OSTEOPETROSIS TYPE 1
- Seizures
- Short stature
- Hearing impairment
- Pain
- Headache
More info about AUTOSOMAL DOMINANT OSTEOPETROSIS TYPE 1
ENDOSTEAL HYPEROSTOSIS, WORTH TYPE
Alternate names
ENDOSTEAL HYPEROSTOSIS, WORTH TYPE Is also known as ostÉosclÉrose autosomique dominante type worth, osteosclerosis, autosomal dominant, autosomal dominant osteosclerosis, worth type, hyperostosis corticalis generalisata, benign form of worth, with torus palatinus, worth syndrome
Description
Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.
Most common symptoms of ENDOSTEAL HYPEROSTOSIS, WORTH TYPE
- Hearing impairment
- Hypertelorism
- Nystagmus
- Sensorineural hearing impairment
- Hypertension
More info about ENDOSTEAL HYPEROSTOSIS, WORTH TYPE
HYPEROSTOSIS CORTICALIS GENERALISATA
Alternate names
HYPEROSTOSIS CORTICALIS GENERALISATA Is also known as hyperphosphatasemia tarda, hyperostosis corticalis generalisata, van buchem disease, endosteal hyperostosis, autosomal recessive
Description
Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.
Most common symptoms of HYPEROSTOSIS CORTICALIS GENERALISATA
- Hearing impairment
- Sensorineural hearing impairment
- Pain
- Optic atrophy
- Blindness
More info about HYPEROSTOSIS CORTICALIS GENERALISATA
ISOLATED POLYCYSTIC LIVER DISEASE
Alternate names
ISOLATED POLYCYSTIC LIVER DISEASE Is also known as pcld, autosomal dominant polycystic liver disease, adpcld
Description
Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD).
Most common symptoms of ISOLATED POLYCYSTIC LIVER DISEASE
- Hepatomegaly
- Respiratory insufficiency
- Dilatation
- Abdominal pain
- Gastroesophageal reflux
More info about ISOLATED POLYCYSTIC LIVER DISEASE
OSTEOPOROSIS
Alternate names
OSTEOPOROSIS Is also known as bone mineral density quantitative trait locus, osteoporosis, postmenopausal, bmnd, osteoporosis, involutional
Most common symptoms of OSTEOPOROSIS
- Osteoporosis
- Hypercalcemia
- Hyperparathyroidism
- Secondary hyperparathyroidism
More info about OSTEOPOROSIS
SOURCES: OMIM
EXUDATIVE VITREORETINOPATHY 4; EVR4
Description
Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by Poulter et al., 2010).For a discussion of genetic heterogeneity of familial exudative vitreoretinopathy, see EVR1 (OMIM ).
Most common symptoms of EXUDATIVE VITREORETINOPATHY 4; EVR4
- Blindness
- Reduced visual acuity
- Osteopenia
- Subcapsular cataract
- Vitreoretinopathy
More info about EXUDATIVE VITREORETINOPATHY 4; EVR4
POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS; PCLD4
Description
PCLD4 is an autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure (summary by Cnossen et al., 2014).For a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 (OMIM ).
Most common symptoms of POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS; PCLD4
- Renal insufficiency
- Abnormality of the liver
- Renal cyst
- Hepatic cysts
- Polycystic liver disease
More info about POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS; PCLD4
SOURCES: OMIM
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1
Most common symptoms of BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1
- Osteoporosis
- Increased bone mineral density
- Hyperostosis
- Abnormality of the vertebral column
- Osteopetrosis
More info about BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1
SOURCES: OMIM
OSTEOSCLEROSIS-DEVELOPMENTAL DELAY-CRANIOSYNOSTOSIS SYNDROME
Description
This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term).
Most common symptoms of OSTEOSCLEROSIS-DEVELOPMENTAL DELAY-CRANIOSYNOSTOSIS SYNDROME
- Hearing impairment
- Hypertelorism
- Visual impairment
- Macrocephaly
- Optic atrophy
More info about OSTEOSCLEROSIS-DEVELOPMENTAL DELAY-CRANIOSYNOSTOSIS SYNDROME
SOURCES: ORPHANET
LRP5-RELATED PRIMARY OSTEOPOROSIS
Search interest in LRP5
Potential gene panels for LRP5 gene
MitoMet®Plus aCGH Analysis Panel
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panelLRP5 (OPPG) DNA Sequencing Test Panel
By Athena Diagnostics Inc
This panel specifically test the LRP5 gene.
More info about this panelLRP5 Idiopathic Osteoporosis (IOP) DNA Sequencing Test Panel
By Athena Diagnostics Inc
This panel specifically test the LRP5 gene.
More info about this panelOsteogenesis Imperfecta and Genetic Bone Disorders Panel Panel
By Collagen Diagnostic Laboratory University of Washington Osteogenesis Imperfecta and Genetic Bone Disorders Panel that also includes the following genes: BMP1 SEC24D SPARC TNFRSF11B WNT1 MBTPS2 SERPINH1 XYLT2 NBAS IFITM5
More info about this panelCystic Diseases of the Liver/Kidney Panel by next-generation sequencing (NGS) Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Cystic Diseases of the Liver/Kidney Panel by next-generation sequencing (NGS) that also includes the following genes: DNAJB11 SEC63 ALG8 DZIP1L GANAB LRP5 PKD2 PKHD1 PRKCSH
More info about this panelOsteogenesis Imperfecta & Low Bone Mass Disorders Panel Panel
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Osteogenesis Imperfecta & Low Bone Mass Disorders Panel that also includes the following genes: BMP1 SEC24D SPARC WNT1 CASR SERPINH1 IFITM5 SP7 FKBP10 CREB3L1
More info about this panelOsteoporosis Pseudoglioma Syndrome Panel
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the LRP5 gene.
More info about this panelPolycystic kidney and liver disease modifier panel Panel
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Polycystic kidney and liver disease modifier panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD DNAJB11 SEC61B SEC61A1 SEC63 ALG8 DZIP1L
More info about this panelLRP5. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the LRP5 gene.
More info about this panelOsteopetrosis autosomal dominant type 1 (sequence analysis of LRP5 gene) Panel
By CGC Genetics
This panel specifically test the LRP5 gene.
More info about this panelIsolated Polycystic Liver Disease (PCLD) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Isolated Polycystic Liver Disease (PCLD) Sequencing Panel with CNV Detection that also includes the following genes: SEC63 LRP5 PRKCSH
More info about this panelComprehensive Vitreoretinopathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection that also includes the following genes: ATOH7 CAPN5 RCBTB1 ATP6V0A2 ZNF408 TSPAN12 VCAN CTNNB1 ISPD FZD4
More info about this panelComprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelPolycystic Liver Disease (PLD) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Polycystic Liver Disease (PLD) Sequencing Panel with CNV Detection that also includes the following genes: SEC63 GANAB LRP5 PKD1 PKD2 PRKCSH
More info about this panelOsteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection that also includes the following genes: SCN9A BMP1 SEC24D SLC2A2 SPARC WNT1 MBTPS2 SERPINH1 XYLT2 NBAS
More info about this panelOsteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection that also includes the following genes: SCN9A BMP1 SEC24D SLC2A2 SPARC WNT1 MBTPS2 SERPINH1 XYLT2 NBAS
More info about this panelHereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 HNF1B TSC1 TSC2 UMOD VHL NEK8 DNAJB11 ZNF423 DICER1
More info about this panelSkeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panelExudative vitreoretinopathy Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Exudative vitreoretinopathy Deletion / Duplication panel that also includes the following genes: CAPN5 ZNF408 TSPAN12 FZD4 KIF11 LRP5 NDP
More info about this panelExudative vitreoretinopathy Comprehensive panel Panel
By Connective Tissue Gene Tests Exudative vitreoretinopathy Comprehensive panel that also includes the following genes: CAPN5 ZNF408 TSPAN12 FZD4 KIF11 LRP5 NDP
More info about this panelExudative vitreoretinopathy NGS panel Panel
By Connective Tissue Gene Tests Exudative vitreoretinopathy NGS panel that also includes the following genes: CAPN5 ZNF408 TSPAN12 FZD4 KIF11 LRP5 NDP
More info about this panelOsteogenesis imperfecta Comprehensive panel - Dominant & Recessive Panel
By Connective Tissue Gene Tests Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1
More info about this panelPolycystic kidney disease and related disorders NGS panel Panel
By Connective Tissue Gene Tests Polycystic kidney disease and related disorders NGS panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1
More info about this panelVitreoretinopathy Comprehensive panel Panel
By Connective Tissue Gene Tests Vitreoretinopathy Comprehensive panel that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2
More info about this panelOsteogenesis imperfecta Deletion / Duplication panel - Recessive Panel
By Connective Tissue Gene Tests Osteogenesis imperfecta Deletion / Duplication panel - Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 SP7 FKBP10 CREB3L1 P3H1
More info about this panelPolycystic liver disease Comprehensive panel Panel
By Connective Tissue Gene Tests Polycystic liver disease Comprehensive panel that also includes the following genes: SEC63 GANAB LRP5 PKD1 PKD2 PKHD1 PRKCSH
More info about this panelVitreoretinopathy Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Vitreoretinopathy Deletion / Duplication panel that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2
More info about this panelOsteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive Panel
By Connective Tissue Gene Tests Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1
More info about this panelOsteogenesis imperfecta NGS panel - Recessive Panel
By Connective Tissue Gene Tests Osteogenesis imperfecta NGS panel - Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 SP7 FKBP10 CREB3L1 P3H1
More info about this panelOsteopetrosis and Dense bone dysplasia Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST
More info about this panelOsteopetrosis Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Osteopetrosis Deletion / Duplication panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 FAM20C FERMT3 CTSK
More info about this panelPolycystic liver disease Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Polycystic liver disease Deletion / Duplication panel that also includes the following genes: SEC63 GANAB LRP5 PKD1 PKD2 PKHD1 PRKCSH
More info about this panelPolycystic kidney disease and related disorders Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Polycystic kidney disease and related disorders Deletion / Duplication panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1
More info about this panelOsteopetrosis and Dense bone dysplasia NGS panel Panel
By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia NGS panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST
More info about this panelOsteopetrosis Comprehensive panel Panel
By Connective Tissue Gene Tests Osteopetrosis Comprehensive panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 FAM20C FERMT3 CTSK
More info about this panelPolycystic liver disease NGS panel Panel
By Connective Tissue Gene Tests Polycystic liver disease NGS panel that also includes the following genes: SEC63 GANAB LRP5 PKD1 PKD2 PKHD1 PRKCSH
More info about this panelOsteopetrosis and Dense bone dysplasia Comprehensive panel Panel
By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Comprehensive panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST
More info about this panelOsteopetrosis NGS panel Panel
By Connective Tissue Gene Tests Osteopetrosis NGS panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 FAM20C FERMT3 CTSK
More info about this panelVitreoretinopathy NGS panel Panel
By Connective Tissue Gene Tests Vitreoretinopathy NGS panel that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2
More info about this panelPolycystic kidney disease and related disorders Comprehensive panel Panel
By Connective Tissue Gene Tests Polycystic kidney disease and related disorders Comprehensive panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1
More info about this panelOsteogenesis imperfecta Comprehensive panel - Recessive Panel
By Connective Tissue Gene Tests Osteogenesis imperfecta Comprehensive panel - Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 SP7 FKBP10 CREB3L1 P3H1
More info about this panelOsteogenesis imperfecta NGS panel - Dominant & Recessive Panel
By Connective Tissue Gene Tests Osteogenesis imperfecta NGS panel - Dominant & Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1
More info about this panelExudative vitreoretinopathy 4 NGS test Panel
By Connective Tissue Gene Tests
This panel specifically test the LRP5 gene.
More info about this panelExudative vitreoretinopathy 4 Deletion / Duplication test Panel
By Connective Tissue Gene Tests
This panel specifically test the LRP5 gene.
More info about this panelOsteopetrosis, autosomal dominant 1 Comprehensive test Panel
By Connective Tissue Gene Tests
This panel specifically test the LRP5 gene.
More info about this panelOsteoporosis-pseudoglioma syndrome Comprehensive test Panel
By Connective Tissue Gene Tests
This panel specifically test the LRP5 gene.
More info about this panelOsteoporosis-pseudoglioma syndrome NGS test Panel
By Connective Tissue Gene Tests
This panel specifically test the LRP5 gene.
More info about this panelExudative vitreoretinopathy 4 Comprehensive test Panel
By Connective Tissue Gene Tests
This panel specifically test the LRP5 gene.
More info about this panelOsteopetrosis, autosomal dominant 1 Deletion / Duplication test Panel
By Connective Tissue Gene Tests
This panel specifically test the LRP5 gene.
More info about this panelHyperostosis corticalis generalisata, benign form of worth, with torus palatinus Deletion / Duplication test Panel
By Connective Tissue Gene Tests
This panel specifically test the LRP5 gene.
More info about this panelVan Buchem disease, type 2 NGS test Panel
By Connective Tissue Gene Tests
This panel specifically test the LRP5 gene.
More info about this panelOsteoporosis-pseudoglioma syndrome Deletion / Duplication test Panel
By Connective Tissue Gene Tests
This panel specifically test the LRP5 gene.
More info about this panelVan Buchem disease, type 2 Comprehensive test Panel
By Connective Tissue Gene Tests
This panel specifically test the LRP5 gene.
More info about this panelOsteopetrosis, autosomal dominant 1 NGS test Panel
By Connective Tissue Gene Tests
This panel specifically test the LRP5 gene.
More info about this panelVan Buchem disease, type 2 Deletion / Duplication test Panel
By Connective Tissue Gene Tests
This panel specifically test the LRP5 gene.
More info about this panelHyperostosis corticalis generalisata, benign form of worth, with torus palatinus NGS test Panel
By Connective Tissue Gene Tests
This panel specifically test the LRP5 gene.
More info about this panelHyperostosis corticalis generalisata, benign form of worth, with torus palatinus Comprehensive test Panel
By Connective Tissue Gene Tests
This panel specifically test the LRP5 gene.
More info about this panelOsteogenesis imperfecta and osteoporosis - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Osteogenesis imperfecta and osteoporosis - different panels that also includes the following genes: BMP1 SEC24D SPARC WNT1 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1 P3H1
More info about this panelHereditary kidney disorders - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panelEye Diseases - panels Panel
By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2
More info about this panelMental Retardation and Dysmorphology - panels Panel
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelSyndromal Diseases - panels Panel
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelOsteoporosis pseudoglioma syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the LRP5 gene.
More info about this panelVitreoretinopathy and Wagner syndrome panel Panel
By Centogene AG - the Rare Disease Company Vitreoretinopathy and Wagner syndrome panel that also includes the following genes: TSPAN12 VCAN FZD4 LRP5 NDP
More info about this panelFamilial Exudative Vitreoretinopathy and Wagner syndrome Panel Panel
By CeGaT GmbH Familial Exudative Vitreoretinopathy and Wagner syndrome Panel that also includes the following genes: CAPN5 ZNF408 TSPAN12 VCAN FZD4 LRP5 NDP
More info about this panelSingle gene testing LRP5 Panel
By CeGaT GmbH
This panel specifically test the LRP5 gene.
More info about this panelChondrodysplasia punctata Panel Panel
By CeGaT GmbH Chondrodysplasia punctata Panel that also includes the following genes: BMP1 TNFRSF11B WNT1 SERPINH1 IFITM5 SP7 FKBP10 ATP6V0A2 P3H1 COL1A2
More info about this panelSkeletal dysplasia with increased bone density Panel Panel
By CeGaT GmbH Skeletal dysplasia with increased bone density Panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 CA2 SOST SNX10
More info about this panelEye diseases comprehensive panel Panel
By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelVitreoretinopathy Panel
By Asper Biogene Asper Biogene LLC Vitreoretinopathy that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2
More info about this panelRetinal Dystrophy Panel Panel
By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelVitreoretinopathy panel Panel
By Molecular Vision Laboratory Vitreoretinopathy panel that also includes the following genes: ATOH7 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL4A3 COL4A4 COL4A5
More info about this panelFEVR Panel Panel
By Molecular Vision Laboratory FEVR Panel that also includes the following genes: ZNF408 TSPAN12 FZD4 LRP5 NDP
More info about this panelMVL Vision Panel Panel
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelExudative vitreoretinopathy 4 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the LRP5 gene.
More info about this panelHyperostosis, endosteal Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the LRP5 gene.
More info about this panelOsteopetrosis, autosomal dominant 1 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the LRP5 gene.
More info about this panelvan Buchem disease, type 2 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the LRP5 gene.
More info about this panelExudative vitreoretinopathy 4 Panel
By MedGene
This panel specifically test the LRP5 gene.
More info about this panelHyperostosis, endosteal Panel
By MedGene
This panel specifically test the LRP5 gene.
More info about this panelOsteopetrosis, autosomal dominant 1 Panel
By MedGene
This panel specifically test the LRP5 gene.
More info about this panelvan Buchem disease, type 2 Panel
By MedGene
This panel specifically test the LRP5 gene.
More info about this panelExudative vitreoretinopahty, Familial: LRP5 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the LRP5 gene.
More info about this panelOsteopetrosis autosomal dominant: LRP5 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the LRP5 gene.
More info about this panelFamilial exudative vitreoretinopathy: LRP5, NDP, FZD4 genes deletions-duplications analysis (MLPA) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Familial exudative vitreoretinopathy: LRP5, NDP, FZD4 genes deletions-duplications analysis (MLPA) that also includes the following genes: FZD4 LRP5 NDP
More info about this panelOSTEOGENESIS IMPERFECTA Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases OSTEOGENESIS IMPERFECTA that also includes the following genes: BMP1 SERPINH1 IFITM5 SP7 FKBP10 P3H1 COL1A2 CRTAP ANO5 LRP5
More info about this panelOSTEOPETROSIS Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases OSTEOPETROSIS that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 SNX10 CLCN7 OSTM1 PLEKHM1 LRP5
More info about this panelVitreoretinopathy and Wagner syndrome Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Vitreoretinopathy and Wagner syndrome that also includes the following genes: TSPAN12 VCAN FZD4 LRP5 NDP
More info about this panelNGS panel - Osteogenesis Imperfecta and related disorders Panel
By Genome Diagnostics VU University Medical Center NGS panel - Osteogenesis Imperfecta and related disorders that also includes the following genes: BMP1 WNT1 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1 P3H1 COL1A2 CRTAP
More info about this panelEye Disorders: Comprehensive Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panelVitreoretinopathy: Sequencing and Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Vitreoretinopathy: Sequencing and Deletion/Duplication Panel that also includes the following genes: TSPAN12 COL11A1 COL9A1 VCAN FZD4 KCNJ13 LRP5 NDP
More info about this panelOsteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel that also includes the following genes: TNFRSF11A TYROBP ZMPSTE24 CASR SERPINH1 ANKH IFITM5 SP7 TREM2 FKBP10
More info about this panelSkeletal Dysplasia With Increased Bone Density: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia With Increased Bone Density: Sequencing Panel that also includes the following genes: TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST ANKH
More info about this panelSkeletal Dysplasia: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2
More info about this panelRetina/Photoreceptor Dystrophy: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Retina/Photoreceptor Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panelEye Disorders: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panelIntellectual Disability NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panelVitreoretinopathy and Wagner Syndrome NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Vitreoretinopathy and Wagner Syndrome NGS Panel that also includes the following genes: TSPAN12 VCAN FZD4 LRP5 NDP
More info about this panelSkeletal Dysplasias NGS panel Panel
By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1
More info about this panelLRP5 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LRP5 gene.
More info about this panelPolycystic Liver Disease Panel Panel
By Blueprint Genetics Polycystic Liver Disease Panel that also includes the following genes: SEC63 GANAB LRP5 PKD1 PKD2 PRKCSH
More info about this panelOsteopetrosis and Dense Bone Dysplasia Panel Panel
By Blueprint Genetics Osteopetrosis and Dense Bone Dysplasia Panel that also includes the following genes: SLCO2A1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST SNX10
More info about this panelCystic Kidney Disease Panel Panel
By Blueprint Genetics Cystic Kidney Disease Panel that also includes the following genes: SDCCAG8 SIX5 HNF1B TSC1 TSC2 UMOD VHL NEK8 ZNF423 INVS
More info about this panelRetinal Dystrophy Panel Panel
By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panelOsteogenesis Imperfecta Panel Panel
By Blueprint Genetics Osteogenesis Imperfecta Panel that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1
More info about this panelPolycystic Kidney Disease Panel Panel
By Blueprint Genetics Polycystic Kidney Disease Panel that also includes the following genes: SEC63 DZIP1L GANAB JAG1 LRP5 NOTCH2 PKD1 PKD2 PKHD1 PRKCSH
More info about this panelVitreoretinopathy Panel Panel
By Blueprint Genetics Vitreoretinopathy Panel that also includes the following genes: RS1 BEST1 ATOH7 CAPN5 P3H2 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1
More info about this panelSkeletal Dysplasias Core Panel Panel
By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1
More info about this panelComprehensive Skeletal Dysplasias and Disorders Panel Panel
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panelComprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panelExudative vitreoretinopathy type 4 Panel
By Bioarray
This panel specifically test the LRP5 gene.
More info about this panelSecuenciaci���³n Panel
By Bioarray
This panel specifically test the LRP5 gene.
More info about this panelOsteopetrosis NGS and Deletion/Duplication Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Osteopetrosis NGS and Deletion/Duplication Panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 PLEKHM1 LRP5
More info about this panelOsteopetrosis, Autosomal Dominant Only NGS and Deletion/Duplication Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Osteopetrosis, Autosomal Dominant Only NGS and Deletion/Duplication Panel that also includes the following genes: CLCN7 LRP5
More info about this panelLRP5 Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the LRP5 gene.
More info about this panelEXUDATIVE VITREORETINOPATHY (AUTOSOMAL DOMINANT) Panel
By Laboratorio de Genetica Clinica SL EXUDATIVE VITREORETINOPATHY (AUTOSOMAL DOMINANT) that also includes the following genes: TSPAN12 FZD4 LRP5
More info about this panelPOLYCYSTIC LIVER DISEASE Panel
By Laboratorio de Genetica Clinica SL POLYCYSTIC LIVER DISEASE that also includes the following genes: SEC63 ALG8 LRP5 PRKCSH
More info about this panelHYPEROSTOSIS CORTICALIS GENERALISATA (VAN BUCHEM DISEASE) Panel
By Laboratorio de Genetica Clinica SL HYPEROSTOSIS CORTICALIS GENERALISATA (VAN BUCHEM DISEASE) that also includes the following genes: SOST LRP5
More info about this panelHYPEROSTOSIS, ENDOSTEAL (WORTH TYPE) Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the LRP5 gene.
More info about this panelOSTEOPOROSIS-PSEUDOGLIOMA SYNDROME Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the LRP5 gene.
More info about this panelOSTEOPETROSIS NGS PANEL Panel
By Laboratorio de Genetica Clinica SL OSTEOPETROSIS NGS PANEL that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 PLEKHM1 LRP5
More info about this panelVITREORETINOPATHY NGS PANEL Panel
By Laboratorio de Genetica Clinica SL VITREORETINOPATHY NGS PANEL that also includes the following genes: BEST1 CAPN5 P3H2 ZNF408 TSPAN12 VCAN CTNNB1 FZD4 KCNJ13 LRP5
More info about this panelPOLYCYSTIC LIVER DISEASE NGS PANEL Panel
By Laboratorio de Genetica Clinica SL POLYCYSTIC LIVER DISEASE NGS PANEL that also includes the following genes: SEC63 ALG8 LRP5 PRKCSH
More info about this panelAutosomal Dominant Osteopetrosis , Sequencing LRP5 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the LRP5 gene.
More info about this panelOsteoporosis-Pseudoglioma Syndrome , Sequencing LRP5 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the LRP5 gene.
More info about this panelFamilial Exudative Vitreoretinopathy , Sequencing LRP5 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the LRP5 gene.
More info about this panelFamilial Exudative Vitreoretinopathy , Deletions-Duplications (MLPA) NDP,LRP5,FZD4 Genes Panel
By Reference Laboratory Genetics Familial Exudative Vitreoretinopathy , Deletions-Duplications (MLPA) NDP,LRP5,FZD4 Genes that also includes the following genes: FZD4 LRP5 NDP
More info about this panelOsteopetrosis , Panel Massive Sequencing (NGS) 9 Genes Panel
By Reference Laboratory Genetics Osteopetrosis , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 PLEKHM1 LRP5
More info about this panelFamilial Exudative Vitreoretinopathy and Wagner Syndrome , Panel Massive Sequencing (NGS) 5 Genes Panel
By Reference Laboratory Genetics Familial Exudative Vitreoretinopathy and Wagner Syndrome , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: TSPAN12 VCAN FZD4 LRP5 NDP
More info about this panelOsteoporosis Susceptibility to , Panel Massive Sequencing (NGS) 5 Genes Panel
By Reference Laboratory Genetics Osteoporosis Susceptibility to , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: VDR CALCR COL1A2 LRP5
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panelFamilial Exudative Vitreoretinopathy, Autosomal Dominant: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Familial Exudative Vitreoretinopathy, Autosomal Dominant: gene sequencing panel that also includes the following genes: TSPAN12 FZD4 LRP5
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