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Autosomal recessive hypophosphatemic rickets
A rare hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.
ORPHA:289176Classification level: Disorder
Prevalence is unknown.
The disease is clinically similar to X-linked and autosomal dominant hypophosphatemic rickets (see these terms). It manifests during childhood with typical clinical features of rickets such as short stature, bone pain, and skeletal deformities. During adulthood, clinical findings may include bone pain, fatigue, muscle weakness, and repeated bone fractures.
ARHR is caused by inactivating mutations in the gene encoding dentin matrix protein 1 (DMP1) or in the ectonucleotide pyrophosphatase/phosphodiesterase 1 ENPP1 gene. These mutations increase FGF23 production and thus diminish renal tubular phosphate reabsorption and bone demineralization.
Transmission is autosomal recessive.