Patients with XLH have normal or low serum levels of 1,25-dihydroxyvitamin D3 (also known as calcitriol, the active form of vitamin D), despite having hypophosphatemia, which is a known …

X‑linked hypophosphatemic rickets (XLH, OMIM #307800) is a rare genetic metabolic disorder caused by dysregulation of fibroblast-like growth factor 23 (FGF23) leading to profound …

The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes. OMIM focuses on the relationship between phenotype and genotype. …

Feb 9, 2012 · The phenotypic spectrum of X-linked hypophosphatemia (XLH) ranges from isolated hypophosphatemia to severe lower extremity bowing and/or craniosynostosis, usually …

X-linked hypophosphatemia (XLH) manifests during childhood with typical clinical features of rickets such as short stature, bone pain, and skeletal deformities (bowed legs, genu varum, …

Jan 15, 2025 · X-linked hypophosphataemia (XLH) is a rare metabolic bone disorder caused by pathogenic variants in the PHEX gene, which is predominantly expressed in osteoblasts, …

· X-linked hypophosphatemia (XLH), the most common cause of hypophosphatemic rickets, affects 1/20,000 people. · XLH is caused by a loss-of-function mutation of the PHEX gene. · Its …

X-linked hypophosphatemic rickets (OMIM # 307800) is a multisystem disorder commonly caused by inactivating variants in PHEX expressed in osteocytes and odontoblasts. It results in …

Nov 9, 2024 · Objectives: X-linked hypophosphatemia (XLH, OMIM 307800) is a rare genetic disorder that affects phosphate metabolism. While lower limb deformity represents a hallmark …

Feb 26, 2019 · X-linked hypophosphatemia (also known as X-linked hypophosphatemic rickets, XLH; OMIM: #307800) is an inherited disease of phosphate metabolism, where inactivating …