hypophosphatemic nephrolithiasis/osteoporosis type 1

Pathology

• hypophosphatemia results from idiopathic renal phosphate loss & contributes to the pathogenesis of hypophosphatemic urolithiasis as well to that of hypophosphatemic osteoporosis

Genetics

• associated with defects in SLC34A1 are the cause of

Laboratory

• serum phosphate, hypophosphatemia

More general terms

• genetic disease of bone/skeletal system
• genetic disease of the kidney

Database

• OMIM: https://mirror.omim.org/entry/612286