Disease_Mapped_To_Gene
Pediatric Endocrinology Terminology
Osteoporosis Pseudoglioma Syndrome
An autosomal recessive condition caused by homozygous or compound heterozygous inactivating mutation(s) in the gene LRP5, encoding low-density lipoprotein receptor-related protein 5. This condition is characterized by severe juvenile-onset osteoporosis and congenital or juvenile-onset blindness due to a vascularized retinal mass that resembles a glioma.
An autosomal recessive condition caused by homozygous or compound heterozygous inactivating mutation(s) in the gene LRP5, encoding low-density lipoprotein receptor-related protein 5. This condition is characterized by severe juvenile-onset osteoporosis and congenital or juvenile-onset blindness due to a vascularized retinal mass that resembles a glioma.
C0432252
C130998
Disease or Syndrome
NICHD
Osteoporosis Pseudoglioma Syndrome
Osteoporosis Pseudoglioma Syndrome
Syndrome
NICHD Terminology
LRP5 Gene