LRP5 - LDL receptor related protein 5 Gene

Also Known as HBM; LR3; OPS; EVR1; EVR4; LRP7; OPPG; BMND1; LRP-5; LRP-7; OPTA1; PCLD4; VBCH2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4041

About LRP5

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:68,298,412-68,449,275 (from NCBI)

This gene has 7 transcripts (splice variants), 202 orthologues, 14 paralogues and is associated with 23 phenotypes. Ubiquitous expression in fat (RPKM 20.9), small intestine (RPKM 15.5) and 24 other tissues.

Summary

This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

LRP5 Products (2)

mRNA Protein Name
NM_001291902.2 NP_001278831.1 low-density lipoprotein receptor-related protein 5 isoform 2
NM_002335.4 NP_002326.2 low-density lipoprotein receptor-related protein 5 isoform 1 precursor
Molecular Function GO Annotation Evidence References Source
enables Wnt receptor activity IDA
IDA: Inferred from direct assay
24706814 GOA
enables Wnt-protein binding IPI
IPI: Inferred from physical interaction
11336703 GOA
enables coreceptor activity IPI
IPI: Inferred from physical interaction
11336703 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11336703 GOA
NOT enables toxin transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
18350154 GOA
Biological Process GO Annotation Evidence References Source
involved in Norrin signaling pathway IDA
IDA: Inferred from direct assay
15035989 GOA
involved in adipose tissue development IMP
IMP: Inferred from mutant phenotype
17680723 GOA
involved in bone marrow development IMP
IMP: Inferred from mutant phenotype
17680723 GOA
involved in bone morphogenesis IMP
IMP: Inferred from mutant phenotype
19673927 GOA
involved in canonical Wnt signaling pathway IDA
IDA: Inferred from direct assay
11029007 GOA
involved in canonical Wnt signaling pathway IGI
IGI: Inferred from genetic interaction
11336703 GOA
involved in canonical Wnt signaling pathway IMP
IMP: Inferred from mutant phenotype
18044981 GOA
involved in cholesterol homeostasis IMP
IMP: Inferred from mutant phenotype
18721193 GOA
involved in glucose catabolic process IMP
IMP: Inferred from mutant phenotype
19673927 GOA
involved in negative regulation of osteoblast differentiation IMP
IMP: Inferred from mutant phenotype
17680723 GOA
involved in negative regulation of protein serine/threonine kinase activity IMP
IMP: Inferred from mutant phenotype
19107203 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
15035989 GOA
involved in positive regulation of cell population proliferation IDA
IDA: Inferred from direct assay
9790987 GOA
involved in positive regulation of fat cell differentiation IMP
IMP: Inferred from mutant phenotype
17680723 GOA
involved in positive regulation of mesenchymal cell proliferation IMP
IMP: Inferred from mutant phenotype
17680723 GOA
involved in positive regulation of mitotic nuclear division IDA
IDA: Inferred from direct assay
9790987 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
12857724 GOA
involved in regulation of blood pressure IMP
IMP: Inferred from mutant phenotype
18721193 GOA
involved in retina morphogenesis in camera-type eye IMP
IMP: Inferred from mutant phenotype
15346351 GOA
involved in retinal blood vessel morphogenesis IMP
IMP: Inferred from mutant phenotype
15024691 GOA
Cellular Component GO Annotation Evidence References Source
located in plasma membrane IDA
IDA: Inferred from direct assay
17680723 GOA
part of receptor complex IDA
IDA: Inferred from direct assay
18762581 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LRP5 Protein Structure

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (121 - 160)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (163 - 203)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (207 - 245)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (299 - 336)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (385 - 425)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (428 - 468)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (471 - 511)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (515 - 546)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (605 - 640)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (687 - 727)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (731 - 770)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (773 - 813)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (816 - 852)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (856 - 887)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (906 - 941)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (1124 - 1162)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (1257 - 1295)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (1296 - 1332)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (1336 - 1370)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1615 a.a.
Protein Preferred Names Protein Names

low-density lipoprotein receptor-related protein 5

  • low density lipoprotein receptor-related protein 5

LRP5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
LRP5 O75197 SOST Homo sapiens Q9BQB4 15908424
Intra
LRP5 O75197 CAPRIN2 Homo sapiens Q6IMN6 18762581
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant LRP5 Proteins

Cat. No. Product Name Accession Purity
HY-P77989 LRP-5 Protein, Human (HEK293, mFc) O75197 (E644-Q1263) ≥ 90%, as determined by reducing SDS-PAGE or Bis-Tris PAGE.
HY-P78838 LRP-5 Protein, Human (Biotinylated, HEK293, His-Avi) O75197 (E644-Q1263) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Osteoporosis-Pseudoglioma Syndrome
  • OPPG

  • Ops

  • Osteoporosis With Pseudoglioma

  • Osteogenesis Imperfecta, Ocular Form

  • Ocular Form Of Osteogenesis Imperfecta

  • Osteogenesis Imperfecta Ocular Form

  • Osteoporosis Pseudoglioma Syndrome

  • Pseudoglioma With Bone Fragility

Endosteal Hyperostosis, Autosomal Dominant
  • Osteosclerosis

  • Worth Syndrome

  • Osteosclerosis, Autosomal Dominant

  • Hyperostosis, Endosteal

  • Endosteal Hyperostosis, Worth Type

  • Worth Disease

  • Autosomal Dominant Endosteal Hyperostosis

  • Autosomal Dominant Osteosclerosis, Worth Type

  • Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus

  • Autosomal Dominant Osteosclerosis

  • Benign Form Of Worth Hyperostosis Corticalis Generalisata With Torus Platinus

  • Worth'S Syndrome

  • Worth Type Autosomal Dominant Osteosclerosis

  • Hyperostosis Corticalis Generalisata, Benign Form Of Worth With Torus Palatinus

  • Osteosclerosis, Autosomal Dominant, Worth Type

  • WENHY

  • Endosteal Hyperostosis Autosomal Dominant

  • Hyperostosis Corticalis Generalisata Benign Form Of Worth With Torus Palatinus

  • Osteosclerosis Autosomal Dominant

  • Acquired Osteosclerosis

Osteopetrosis, Autosomal Dominant 1
  • OPTA1

  • Autosomal Dominant Osteopetrosis 1

  • Autosomal Dominant Osteopetrosis Type 1

  • Osteopetrosis Autosomal Dominant Type 1

  • Osteopetrosis, Autosomal Dominant, Type I

  • Osteopetrosis, Autosomal Dominant, Type 1

Polycystic Liver Disease 4 With Or Without Kidney Cysts
  • PCLD4

  • Liver Disease, Polycystic, Type 4, With/Without Kidney Cysts

Exudative Vitreoretinopathy 4
  • EVR4

  • Vitreoretinopathy, Exudative 4

  • Vitreoretinopathy, Exudative, Type 4

Bone Mineral Density Quantitative Trait Locus 1
  • BMND1

  • High Bone Mass Trait

  • HBM

Exudative Vitreoretinopathy
  • Familial Exudative Vitreoretinopathy

  • Fevr

  • Criswick-Schepens Syndrome

  • Exudative Vitreoretinopathy, Familial

  • Vitreoretinopathy, Exudative )

  • Exudative Vitreoretinopathy 1

Exudative Vitreoretinopathy 1
  • Retinopathy Of Prematurity

  • Retrolental Fibroplasia

  • EVR1

  • Criswick-Schepens Syndrome

  • Rop

  • Exudative Vitreoretinopathy, Familial, Autosomal Dominant

  • Fevr, Autosomal Dominant

  • Premature Retinopathy

  • Vitreoretinopathy, Exudative 1

  • Autosomal Dominant Familial Exudative Vitreoretinopathy

  • Fevr

  • Vitreoretinopathy, Exudative, Type 1

  • Retinopathy Of Prematurity Nos

  • Rlf- [Retrolental Fibroplasia]

  • Rop - [Retinopathy Of Prematurity]

  • Terry Syndrome

Osteoporosis
  • Postmenopausal Osteoporosis

  • Osteoporosis, Postmenopausal

  • Bone Mineral Density Quantitative Trait Locus

  • Bmnd

  • Osteoporosis, Involutional

  • Osteoporosis, Susceptibility To

  • Osteoporosis, Postmenopausal, Susceptibility

  • Bone Mineral Density Variation Qtl, Osteoporosis

  • OSTEOP

  • Involutional Osteoporosis

  • Senile Osteoporosis

  • Osteoporosis Postmenopausal

  • Bone Mineral Density, Quantitative Trait Locus

  • Osteoporosis, Senile

  • Idiopathic Osteoporosis

  • Bone Rarefaction Nos

  • Type 1 Osteoporosis

Lrp5-Related Primary Osteoporosis
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Van Buchem Disease
  • Hyperostosis Corticalis Generalisata

  • Hyperphosphatasemia Tarda

  • VBCH

  • Sost-Related Sclerosing Bone Dysplasia

  • Endosteal Hyperostosis Autosomal Recessive

  • Sclerosteosis

  • Endosteal Hyperostosis, Autosomal Recessive

  • Hyperotosis Corticalis Generalisata Familiaris

  • Sost Sclerosing Bone Dysplasia

  • Smith-Lemli-Opitz Syndrome

Brittle Bone Disorder
  • Osteogenesis Imperfecta

  • Brittle Bone Disease

  • Fragilitas Ossium

  • Osteopsathyrosis

  • Lobstein Disease

  • Oi

  • Vrolik Disease

  • Lobstein'S Disease

  • Lobstein'S Syndrome

  • Vrolik'S Disease

  • Porak And Durante Disease

  • Glass Bone Disease

  • Osteogenesis Imperfecta, Dominant Perinatal Lethal

  • Osteogenesis Imperfecta, Recessive Perinatal Lethal

  • Brittle Bone Syndrome

  • Oi - [Osteogenesis Imperfecta]

  • Ossium Fragility

  • Osteitis Fragilitans

  • Bony Fragility

  • Blue Sclera With Fragility Of Bone And Deafness

  • White Blue Sclera - Fragility Of Bone - Deafness

Polycystic Liver Disease
  • Autosomal Dominant Polycystic Liver Disease

  • Isolated Polycystic Liver Disease

  • Pcld

  • Congenital Cystic Liver Disease

  • Congenital Hepatic Cyst

  • Fibrocystic Liver Disease

  • Isolated Autosomal Dominant Polycystic Liver Disease

  • Adpcld

  • Liver Disease, Polycystic

  • Multiple Cysts Of Liver

  • Pld - [Polycystic Liver Disease]

  • Polycystic Liver Disorder

  • Polycystic Liver

  • Congenital Polycystic Disease Of Liver

  • Congenital Polycystic Liver Disease

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Vitreoretinopathy
Van Buchem Disease Type 2
  • VBCH2

  • Osteosclerosis Of The Skull And Enlarged Mandible

  • Van Buchem Disease 2

Vitreoretinal Degeneration
Osteoporosis, Juvenile
  • Idiopathic Juvenile Osteoporosis

  • Idiopathic Osteoporosis

  • Juvenile Osteoporosis

  • Ijo

Sclerosteosis
  • Cortical Hyperostosis With Syndactyly

  • Sost

  • Cortical Hyperostosis-Syndactyly Syndrome

Hyperostosis
  • Hypertrophy Of Bone

  • Bone Hypertrophy

  • Bone Thickening

  • Periosteum Thickening

Norrie Disease
  • Atrophia Bulborum Hereditaria

  • Episkopi Blindness

  • Pseudoglioma

  • ND

  • Norrie-Warburg Disease

  • Anderson-Warburg Syndrome

  • Fetal Iritis Syndrome

  • Norrie Syndrome

  • Norrie-Warburg Syndrome

  • Ndp

  • Congenital Progressive Oculo-Acoustico-Cerebral Degeneration

  • Norrie'S Disease

  • Oligophrenia Microphthalmus

  • Pseudoglioma Congenita

  • Whitnall-Norman Syndrome

Osteopetrosis
  • Marble Bone Disease

  • Albers-Schonberg Disease

  • Osteopetroses

  • Marble Bones

  • Osteopetrosis And Related Disorders

  • Congenital Osteopetrosis

  • Marble Bone

  • Albers-Schoenberg Disease

  • Albers-Schonberg Osteopetrosis

  • Osteosclerosis Fragilis

  • Ivory Bones

Retinal Detachment
  • Retinal Detachments

  • Rhegmatogenous Retinal Detachment

  • Ruptured Retina With Detachment

  • Retinal Hole With Detachment

Camurati-Engelmann Disease
  • Progressive Diaphyseal Dysplasia

  • Ced

  • Engelmann Disease

  • Diaphyseal Dysplasia 1, Progressive

  • Pdd

  • Diaphyseal Dysplasia

  • Dpd1

  • Camurati-Engelmann Syndrome

  • CAEND

  • Engelman'S Disease

  • Diaphyseal Hyperostosis

  • Diaphyseal Osteosclerosis

Mccune-Albright Syndrome
  • Mass Syndrome

  • Polyostotic Fibrous Dysplasia

  • MAS

  • Fibrous Dysplasia Of Bone

  • Albright Syndrome

  • Mass Phenotype

  • Overlap Connective Tissue Disease

  • Mccune Albright Syndrome

  • Osteitis Fibrosa Disseminata

  • OCTD

  • Albright'S Disease

  • Pfd

  • Pofd

  • Albright'S Syndrome

  • Mccune-Albright Syndrome, Somatic, Mosaic

  • Albright'S Disease Of Bone

  • Albright'S Syndrome With Precocious Puberty

  • Albright-Mccune-Sternberg Syndrome

  • Albright-Sternberg Syndrome

  • Fibrous Dysplasia With Pigmentary Skin Changes And Precocious Puberty

  • Gonadotropin-Independent Female-Limited Sexual Precocity

  • Fibrous Dysplasia Polyostotic

  • Fibrous Dysplasia, Polyostotic

Type 1 Diabetes Mellitus
  • Diabetes Mellitus, Insulin-Dependent

  • Diabetes Mellitus Type 1

  • IDDM

  • Type 1 Diabetes

  • Insulin-Dependent Diabetes Mellitus

  • T1D

  • Juvenile-Onset Diabetes

  • Jod

  • Diabetes Mellitus, Type 1

  • Diabetes Mellitus, Insulin-Dependent-1

  • Type I Diabetes Mellitus

  • Autoimmune Diabetes

  • Juvenile Diabetes

  • Juvenile-Onset Diabetes Mellitus

  • Diabetes, Insulin Dependent

  • Insulin-Dependent Diabetes Mellitus-1

  • Diabetes Mellitus Insulin-Dependent

  • Diabetes Autoimmune

  • Diabetes Mellitus, Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 1, Susceptibility To

  • Diabetes Type 1

  • Type I Diabetes

  • Diabetes, Autoimmune

  • T1dm - [Type 1 Diabetes Mellitus]

  • Iddm - [Insulin Dependent Diabetes Mellitus]

  • Type 1 Iddm

  • Juvenile Diabetes Mellitus Without Compications

  • Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications

  • Juvenile-Onset Diabetes Mellitus Without Compications

  • Ketosis-Prone Diabetes Mellitus Without Compications

  • Juvenile-Onset-Type Diabetes Mellitus Without Compications

Osteonecrosis
  • Bone Necrosis

  • Avascular Necrosis Of Bone

  • Aseptic Necrosis

  • Necrosis Of Bone Nos

  • Aseptic Osteonecrosis

  • Aseptic Necrosis Of Bone, Site Unspecified

  • Aseptic Or Avascular Bone Necrosis

  • Aseptic Necrosis Of Bone

  • Necrotic Bone

  • Necrotizing Bone

  • Spontaneous Osteonecrosis

  • Osteoradionecrosis

Craniodiaphyseal Dysplasia
  • CDD

  • Schaefer Stein Oshman Syndrome

  • Craniodiaphyseal Dysplasia, Dominant

  • Dominantly Inherited Craniodiaphyseal Dysplasia

Autosomal Dominant Polycystic Kidney Disease
  • Polycystic Kidney Disease, Adult Type

  • Adpkd

  • Polycystic Kidney Diseases

  • Polycystic Kidney, Autosomal Dominant

  • Congenital Biliary Ectasias

  • Polycystic Kidney And Hepatic Disease 1

  • Polycystic Kidney Disease, Autosomal Dominant

  • Kidney, Polycystic, Disease, Autosomal Dominant

  • Adult Polycystic Kidney Disease

  • Polycystic Kidney, Adult Type

  • Apckd - [Autosomal Polycystic Kidney Disease]

Type 1 Diabetes Mellitus 4
  • Diabetes Mellitus, Insulin-Dependent, 4

  • Iddm4

  • Insulin-Dependent Diabetes Mellitus 4

  • T1D4

  • Insulin-Dependent Diabetes Mellitus-4

Craniodiaphyseal Dysplasia, Autosomal Dominant
  • CDD

  • Autosomal Dominant Craniodiaphyseal Dysplasia

  • Schaefer Stein Oshman Syndrome

  • Craniodiaphyseal Dysplasia Autosomal Dominant

Liver Disease
  • Liver Failure

  • Liver Diseases

  • Abnormality Of The Liver

  • Liver Dysfunction

  • Disorder Of Liver

  • Hepatic Disorder

  • Hepatic Disease

  • Disease Of Bilirubin Metabolism

  • Disorder Of Bilirubin Metabolism

  • Liver Decompensation

  • Liver Function Failure

  • Hepatic Failure Nos

  • Liver Failure Nos

  • End Stage Liver Disease

  • Decompensated Liver Failure

  • Decompensation Of Liver Function

  • Hepatic Decompensation

  • Hepatic Insufficiency

  • Liver Cell Necrosis With Hepatic Failure

  • Liver Insufficiency

  • Decompensated Liver Disease

  • End Stage Liver Failure

  • Liver Necrosis With Hepatic Failure

Diabetes Mellitus
  • Diabetes

Hypotrichosis Simplex
  • Hereditary Hypotrichosis Simplex

  • Hhs

Craniosynostosis
  • Premature Closure Of Cranial Sutures

  • Craniostenosis

  • Craniosynostosis Syndrome

  • Cso

  • Craniosynostoses

  • Congenital Ossification Of Cranial Sutures

  • Congenital Ossification Of Sutures Of Skull

  • Craniostosis

  • Imperfect Fusion Of Skull

  • Congenital Imperfect Closure Skull

  • Imperfect Closure Skull

  • Premature Closure Cranium Sutures

  • Deficiency Of Craniofacial Axis

Sclerosteosis 2
  • SOST2

  • Sclerosteosis, Type 2

Kidney Disease
  • Renal Failure

  • Kidney Failure

  • Kidney Diseases

  • Nephropathy

  • Abnormality Of The Kidney

  • Impaired Renal Function Disease

  • Renal Anomaly

  • Kidney Dysfunction

  • Renal Disease

  • Nephropathies

  • Renal Failure Adverse Event

  • Abnormal Renal Function

Bone Disease
  • Bone Diseases

  • Skeletal Disease

  • Skeletal Disorder

  • Disorder Of Skeletal System

Ectodermal Dysplasia 13, Hair/Tooth Type
  • ECTD13

  • Ectodermal Dysplasia 13

Hypotrichosis
Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

Polycystic Kidney Disease
  • Polycystic Kidney Diseases

  • Pkd

  • Polycystic Renal Disease

  • Kidney Disease, Polycystic

  • Polycystic Kidney, Autosomal Dominant

Osteopetrosis, Autosomal Dominant 2
  • OPTA2

  • Autosomal Dominant Osteopetrosis 2

  • Osteopetrosis Autosomal Dominant Type 2

  • Osteopetrosis, Autosomal Dominant, Type Ii

  • Albers-Schonberg Osteopetrosis

  • Autosomal Dominant Albers-Schonberg Disease

  • Osteopetrosis

  • Marble Bones, Autosomal Dominant

  • Osteosclerosis Fragilis Generalisata

  • Albers-Schonberg Disease, Autosomal Dominant

  • Autosomal Dominant Osteopetrosis Type Ii

  • Albers-Schönberg Osteopetrosis

  • Autosomal Dominant Osteopetrosis Type 2

  • Marble Disease Autosomal Dominant

  • Osteopetrosis, Autosomal Dominant, Type 2

Glucocorticoid-Induced Osteoporosis
  • Steroid-Induced Osteoporosis

Bone Resorption Disease
  • Bone Resorption

Slate Pneumoconiosis
  • Schistosis

Bone Remodeling Disease
Osteogenesis Imperfecta, Type Xv
  • Osteogenesis Imperfecta Type 15

  • OI15

  • Osteogenesis Imperfecta Type Xv

  • Oi, Type Xv

  • Osteogenesis Imperfecta 15

  • Oi Type Xv

  • Oi-Xv

Digeorge Syndrome
  • Chromosome 22q11.2 Deletion Syndrome

  • DGS

  • Hypoplasia Of Thymus And Parathyroids

  • Third And Fourth Pharyngeal Pouch Syndrome

  • 22q11.2 Deletion Syndrome

  • Digeorge Sequence

  • Digeorge'S Syndrome

  • Pharyngeal Pouch Syndrome

  • Di-George Syndrome

  • Shprintzen Syndrome

Persistent Hyperplastic Primary Vitreous
  • Congenital Retinal Detachment

  • Ncrna Disease

  • Non-Syndromic Congenital Retinal Non-Attachment

  • Pfvs

  • Phpv

  • Persistent Fetal Vasculature Syndrome

Leukocoria
  • Leucocoria

Osteopathia Striata With Cranial Sclerosis
  • Hyperostosis Generalisata With Striations

  • Robinow-Unger Syndrome

  • OSCS

  • Osteopathia Striata Cranial Sclerosis

  • Osteopathia Striata-Cranial Sclerosis Syndrome

  • Horan-Beighton Syndrome

  • Os-Cs

  • Osteopathia Striata - Cranial Sclerosis

  • Voorhoeve Disease

  • Osc

Cenani-Lenz Syndactyly Syndrome
  • Syndactyly Type 7

  • Cenani Syndactylism

  • Cenani-Lenz Syndactyly

  • CLSS

  • Syndactyly Cenani Lenz Type

  • Cenani-Lenz Syndrome

  • Syndactyly, Type Vii

  • Cenani-Lenz Type Syndactyly

  • Cenani Syndactyly

  • Syndactyly Type Vii

Retinal Telangiectasia
Dilated Cardiomyopathy 1t
  • Cmd1t

  • Cardiomyopathy, Dilated, 1t

Coats Disease
  • Exudative Retinopathy

  • Retinal Telangiectasis

  • Coats' Disease

  • Leber Miliary Aneurysm

  • Coats' Syndrome

  • Congenital Retinal Telangiectasia

Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

Focal Segmental Glomerulosclerosis
  • Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

  • Focal Glomerulosclerosis

  • Fsgs

  • Segmental Glomerulosclerosis

  • Glomerulosclerosis, Focal Segmental

  • Fgs

  • Focal Glomerular Sclerosis

  • Familial Idiopathic Nephrotic Syndrome

  • Focal Sclerosis With Hyalinosis

  • Glomerulosclerosis, Focal

  • Glomerulosclerosis Focal

  • Glomerulosclerosis, Segmental, Focal

  • Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Chromosome 2q35 Duplication Syndrome
  • Syndactyly

  • Syndactyly Type 1

  • Sdty1

  • Zygodactyly

  • Syndactyly, Type I

  • Sd1

  • Syndactyly, Type 1, With Or Without Craniosynostosis

  • Symphalangism

  • Non-Syndromic Syndactyly

  • Symphalangy

  • Webbing Of Digits

  • Syndactyly, Type 1

Tetraamelia Syndrome
  • Tetra-Amelia Syndrome

  • Tetraamelia-Multiple Malformations Syndrome

  • Tetra-Amelia

  • Tetra-Amelia, Autosomal Recessive

  • Tetraamelia, Autosomal Recessive

  • Total Amelia

  • Zimmer Phocomelia

  • Tetams

  • Zimmer Taub Sova Syndrome

Robinow Syndrome
  • Acral Dysostosis With Facial And Genital Abnormalities

  • Fetal Face Syndrome

  • Robinow Dwarfism

  • Mesomelic Dwarfism-Small Genitalia Syndrome

  • Robinow-Silverman-Smith Syndrome

  • Costovertebral Segmentation Defect With Mesomelia

  • Covesdem Syndrome

  • Robinow'S Syndrome

  • Robinow-Silverman Syndrome

Retinitis Pigmentosa 7
  • Leber Congenital Amaurosis 18

  • RP7

  • Retinitis Pigmentosa 7, Digenic Form

  • Retinitis Pigmentosa 7 And Digenic Form

  • Retinitis Pigmentosa 7, Digenic

  • LCA18

  • Retinitis Pigmentosa 7 Digenic

Bone Development Disease
Osteochondrodysplasia
  • Skeletal Dysplasia

  • Chondrodystrophy

  • Congenital Anomaly Of Cartilage

  • Osteochondrodysplasias

  • Cartilage Development Disorder

  • Osteochondrodysplasia Syndrome

  • Dysplasia, Skeletal

  • Mucopolysaccharidosis Iv

Aortic Valve Disease 1
  • Aortic Valve Disease

  • Bicuspid Aortic Valve

  • Aortic Valve Disorder

  • AOVD1

  • Bav

  • Bicuspid Aortic Valve Disease

  • Familial Bicuspid Aortic Valve

  • Aortic Valve Calcification

  • Aovd

  • Aortic Valve, Bicuspid

  • Aortic Valve, Calcification Of

  • Aortic Stenosis, Calcific

  • Familial Bav

  • Calcific Aortic Stenosis

  • Calcification Of Aortic Valve

  • Abnormality Of The Aortic Valve

  • Aortic Valve Disease, Type 1

  • Aortic Valve Disease 2

  • Bicommissural Aortic Valve

Tooth Agenesis
  • Oligodontia

  • Hypodontia

  • Selective Tooth Agenesis

  • Tooth Agenesis, Selective

  • Familial Tooth Agenesis

  • Anodontia

  • Congenital Absence Of One Tooth

Hypertension, Essential
  • Essential Hypertension

  • Hypertension

  • High Blood Pressure

  • Hypertension, Essential, Susceptibility To

  • Hypertensive Disease

  • Primary Hypertension

  • EHT

  • Hypertension, Salt-Sensitive Essential, Susceptibility To

  • Hyperpiesia

  • Idiopathic Hypertension

  • Hypertensive Disorder

  • Hypertension, Essential, Susceptibility To, 3

  • Hypertension, Essential 3

  • Hypertension, Essential, Salt-Sensitive

  • Hypertension, Essential, Susceptibility To, 6

  • Hypertension, Essential 6

  • Hypertension, Salt-Sensitive Essential

  • Hypertension, Susceptibility To

  • Hypertension, Essential, Susceptibility To, 4

  • Hypertension, Essential 4

  • Hypertension, Essential, Susceptibility To, 2

  • Hypertension, Essential 2

  • Hypertension, Essential, Susceptibility To, 1

  • Hypertension, Essential 1

  • Hypertension, Essential, Susceptibility To, 5

  • Hypertension, Essential 5

  • Htn

  • Vascular Hypertensive Disorder

  • Systemic Primary Arterial Hypertension

  • Hbp - [High Blood Pressure]

  • Systemic Arterial Hypertensive Disorder

  • Elevated Blood Pressure

  • Arterial Hypertension Nos

  • Hypertension Nos

  • Benign Hypertension

  • Systemic Arterial Hypertension

  • Systemic Hypertension

  • Artery Htn

  • Benign Htn

  • Vascular Htn

  • Vascular Hypertension

  • Cholesterol Hypertension

  • Cholesterol Htn

  • Idiopathic Htn

  • Malignant Hypertension

  • Malignant Htn

  • Raised Blood Pressure

  • Cardiovascular Hypertension

  • Primary Htn - [Hypertension]

  • High Arterial Tension

  • High Blood Pressure Disorder

  • Ht - [Hypertension]

  • Htn - [Hypertension]

  • Hypertensive Vascular Disease

  • Hypertensive Vascular Degeneration

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta LRP5 VGNC VGNC:101301
Rattus norvegicus LRP5 RGD RGD:1309329
Mus musculus LRP5 MGD MGI:1278315
Canis familiaris LRP5 VGNC VGNC:49918
Bos taurus LRP5 VGNC VGNC:97281
Felis catus LRP5 VGNC VGNC:97482
Others LRP5 NCBI