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LRP5

LDL receptor related protein 5

HCNC Approved Symbol
LRP5 (HGNC:6697)
Genomic Coordinates
11:68,298,412 - 68,449,275 (11q13.2)
Synonyms
LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4, LRP7, OPPG, EVR1
Disease Associations
This gene is associated with the following 6 diseases in OMIM.

Diagnosed Cases

21Patients

In total, 21 patients were diagnosed with a variant in the LRP5 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Exudative vitreoretinopathy
 13 (61.9%)
Retinal disease
 4 (19.0%)
Delayed development
 
2 (9.5%)
Exudative retinal detachment
 
2 (9.5%)
Hearing impairment
 
2 (9.5%)
LRP5 - Gene browser | 3billion