Autosomal dominant hypophosphatemic rickets
Definition:
Autosomal dominant hypophosphatemic rickets (ADHR) is a rare genetic disorder, characterized by low serum phosphorus concentrations, rickets, osteomalacia, lower extremity deformities, short stature, bone pain and dental abscesses. The mutations in FGF23 cause ADHR. FGF23 is a circulatory hormone produced by osteocytes, but is also found in heart and liver. FGF23 helps maintain phosphorus homeostasis by inducing renal phosphate excretion.
References:
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[1]. ADHR Consortium, et al. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet. 2000 Nov;26(3):345-8. [Content Brief]
[2]. Amir S Alizadeh Naderi, et al. Hereditary disorders of renal phosphate wasting. Nat Rev Nephrol. 2010 Nov;6(11):657-65. [Content Brief]
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