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LRP5 - LDL receptor related protein 5
- Synonym(s) : BMND1, EVR4, HBM, LR3, OPS, OPTA1, VBCH2
- Previous symbols and names : EVR1, LRP7, OPPG, exudative vitreoretinopathy 1, low density lipoprotein receptor-related protein 5, osteoporosis pseudoglioma syndrome
- Type : gene with protein product
- Chromosomal location : 11q13.2
- OMIM: 603506
- HGNC: 6697
- UniProtKB: O75197
- Genatlas: LRP5
- GenCC: LRP5
- Ensembl: ENSG00000162337
- IUPHAR-DB: -
- Reactome: O75197
- LOVD: LRP5
Diseases list
- Disease-causing germline mutation(s) in Endosteal hyperostosis, Worth type
ORPHA:2790 
- Disease-causing germline mutation(s) in Familial exudative vitreoretinopathy
ORPHA:891 - Disease-causing germline mutation(s) in Hyperostosis corticalis generalisata
ORPHA:3416 - Disease-causing germline mutation(s) in Isolated polycystic liver disease
ORPHA:2924 - Disease-causing germline mutation(s) in LRP5-related primary osteoporosis
ORPHA:498481 - Disease-causing germline mutation(s) (loss of function) in Osteoporosis-pseudoglioma syndrome
ORPHA:2788 - Disease-causing germline mutation(s) (gain of function) in Autosomal dominant osteopetrosis type 1
ORPHA:2783 - Disease-causing germline mutation(s) (gain of function) in Osteosclerosis-developmental delay-craniosynostosis syndrome
ORPHA:178377 - Major susceptibility factor in LRP5-related primary osteoporosis
ORPHA:498481 - Major susceptibility factor in Retinopathy of prematurity
ORPHA:90050
: AssessedAdditional information
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