PLS3, plastin 3, 5358

N. diseases: 47; N. variants: 5
Disease: Juvenile Primary Osteoporosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711559
Disease: Juvenile Primary Osteoporosis
Juvenile Primary Osteoporosis 		0.030 Biomarker disease BEFREE PLS3 screening is warranted in male and female patients with childhood-onset primary osteoporosis. 28748388 2017
CUI: C3711559
Disease: Juvenile Primary Osteoporosis
Juvenile Primary Osteoporosis 		0.030 GeneticVariation disease BEFREE Here we describe for the first time PLS3 deletions as the underlying cause for childhood-onset primary osteoporosis in 3 boys from 2 families. 28777485 2017
CUI: C3711559
Disease: Juvenile Primary Osteoporosis
Juvenile Primary Osteoporosis 		0.030 GeneticVariation disease BEFREE More recently, mutations in PLS3, located on the X chromosome, were shown to be the cause of X-linked childhood-onset primary osteoporosis affecting mainly males. 26517534 2015