Osteoporosis-pseudoglioma syndrome (OPPG) is inherited as an autosomal recessive condition and is characterized by severe congenital osteoporosis with blindness. Mutations in LRP5 cause OPPG.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H00451 Osteoporosis-pseudoglioma syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06505 WNT signaling
H00451 Osteoporosis-pseudoglioma syndrome
