hypophosphatemic rickets, autosomal recessive type 2

Pathology

• proximal renal tubule function that results in phosphate loss
• rickets
• osteomalacia

Genetics

• autosomal recessive
• associated with defects in DMP1

Clinical manifestations

• bone pain
• bone fractures
• growth abnormalities

Laboratory

• serum phosphate: hypophosphatemia

Management

• unresponsive to vitamin D

More general terms

• hypophosphatemic rickets, autosomal recessive

Database

• OMIM: https://mirror.omim.org/entry/613312