KEGG   VARIANT: 4041v1
Entry
4041v1                      Variant                                
Name
LRP5 mutation
Type
Loss of function
Gene
LRP5  LDL receptor related protein 5 [KO:K03068]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603506
Network
nt06505  WNT signaling
Disease
H00436  Osteopetrosis
H00451  Osteoporosis-pseudoglioma syndrome
H00589  Familial exudative vitreoretinopathy
H01593  Osteoporosis
H01774  Hyperostosis corticalis generalisata
Reference
  Authors
Martinez-Gil N, Ugartondo N, Grinberg D, Balcells S
  Title
Wnt Pathway Extracellular Components and Their Essential Roles in Bone Homeostasis.
  Journal
Genes (Basel) 13:138 (2022)
DOI:10.3390/genes13010138
Reference
  Authors
Huybrechts Y, Mortier G, Boudin E, Van Hul W
  Title
WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders.
  Journal
Front Endocrinol (Lausanne) 11:165 (2020)
DOI:10.3389/fendo.2020.00165
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