Rickets, Hypophosphatemic, Autosomal Recessive

Autosomal recessive hypophosphatemic rickets is characterized by hypophosphatemia and osteomalacia. Resolution of rickets has been observed after treatment with phosphate and vitamin D substitution. Affected individuals can exhibit bowing of the lower limbs, poor dental development, extraskeletal ossification and elevated serum FGF23 levels. Typically, individuals have normal stature. As an autosomal recessive trait, this disorder affects both males and females. ARHR is phenotypically similar to the more common X-linked form of hypophosphatemic rickets due to loss-of-function mutation in the PHEX gene

Tests Available

Forms and Documents

Test Details

  • Confirmation of the clinical diagnosis
  • Differentiation from autosomal dominant and X-linked forms of the disease
  • Determination of appropriate therapeutic approach
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing


3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs


  • 275.3 Disorders of phosphorus metabolism, Familial hypophosphatemia, Hypophosphatasia, Vitamin D-resistant: osteomalacia rickets
  • 268.2 Osteomalacia, unspecified
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  1. Feng, J.Q., et al., Loss of DMP1 Causes Rickets and Ostomalacia and Identified a Role for Osteocytes in Mineral Metabolism, Nat Genet 38(11): 1310-1315 (2006).
  2. Lorenz-Depiereux, B., et al., DMP1 Mutations in Autosomal Recessive Hypophosphatemia Implicate a Bone Matrix Protein in the Regulation of Phosphate Homeostasis, Nat Genet 38(11):1248-1250 (2006).
  3. Farrow et al. The role of DMP1 in autosomal recessive hypophosphatemic rickets. J Musculoskelet Neuronal Interact 7(4):30-312 (2007).