Hereditary hypophosphatemic rickets (including X-linked hypophosphatemia)
X-linked hypophosphatemia, the most common form, affects about 1 in 20,000 people.
Inherited disorders of phosphate handling, most often caused by PHEX variants (X-linked hypophosphatemia) and less often by FGF23, DMP1, ENPP1 or SLC34A3, that lead to low blood phosphate and rickets.
What a diagnosis changes
Treatment with oral phosphate and active vitamin D, or with the anti-FGF23 antibody burosumab, can improve bone health and growth.
Includes 8 related subtypes ↓Hide subtypes ↑
- autosomal dominant hypophosphatemic rickets
- autosomal recessive hypophosphatemic rickets
- hereditary hypophosphatemic rickets with hypercalciuria
- hypophosphatemic rickets, autosomal recessive, 1
- hypophosphatemic rickets, autosomal recessive, 2
- hypophosphatemic rickets, X-linked recessive
- X-linked dominant hypophosphatemic rickets
- X-linked hypophosphatemic rickets
