hypophosphatemic rickets—autosomal recessive—1
Definition A hereditary form (OMIM:241520) of hypophosphatemic rickets.*
*A proximal renal tubule dysfunction that causes phosphate loss, hypophosphataemia and skeletal deformities, including rickets and osteomalacia unresponsive to vitamin D.
Clinical findings Bone pain, fractures, growth defects
Molecular pathology Defects of DMP1, which encodes dentin matrix acidic phosphoprotein, an extracellular matrix protein that orchestrates mineralisation of bone and dentin, cause hypophosphatemic rickets—autosomal recessive 1.