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Hypophosphatemic rickets
Disease definition
Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium.
ORPHA:437
- Synonym(s): -
- Prevalence: Unknown
- Inheritance: Autosomal dominant or Autosomal recessive or X-linked dominant
- Age of onset: All ages
- ICD-10: E83.3
- OMIM: -
- UMLS: C1704375 C2363065 C3536983
- MeSH: -
- GARD: 6735
- MedDRA: 10060873
Summary
Clinical description
Characteristic clinical features include slow growth, bone pain and bone deformities.
Etiology
These diseases comprise the FGF23-dependent forms (X-linked, autosomal dominant, and autosomal recessive hypophosphatemic rickets; see these terms) that are caused by mutations in various genes involved in regulating renal phosphate reabsorption (PHEX, FGF23, DMP1, ENPP1) that induce an elevation in circulating levels of FGF23 and the FGF23-independent forms, such as hereditary hypophosphatemic rickets with hypercalciuria (HHRH; see this term), which is caused by mutations in a gene encoding a sodium-dependent phosphate transporter (SLC34A3).
Additional information