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2,602 Possible Causes for Calcium Normal, Flattening of the Talar Dome, Mutation in the PHEX Gene

  • X-Linked Hypophosphatemia

    To date, 131 mutations in the PHEX gene have been reported.[ncbi.nlm.nih.gov] […] shortening of the talar neck and flattening of the talar dome.[ncbi.nlm.nih.gov] Although 1,25(OH)2D levels increased transiently, mean serum and urinary calcium remained normal.[ncbi.nlm.nih.gov]

  • Hereditary Hypophosphatemic Rickets with Hypercalciuria

    This process is due to mutations in the FGF23 and PHEX gene.[ivami.com] Main biochemical alterations: High Ur P, low Pi, low renal TmP/GFR, normal calcium, high Ur Ca, low/normal PTH, normal 25 OH D, high 1,25(OH)2D, and high bone ALP, normal[iofbonehealth.org] […] per kilogram of body weight per 24 hours vs. the upper normal value of 4.0), normal serum calcium levels, increased gastrointestinal absorption of calcium and phosphorus,[ncbi.nlm.nih.gov]

    Missing: Flattening of the Talar Dome
  • Familial Hypophosphatemia

    Milk phosphorus content was extremely low despite normal maternal serum phosphorus concentrations.[ncbi.nlm.nih.gov] X-linked dominant hypophosphatemic rickets, due to mutations in the PHEX gene, is the most common inherited form of the disorder.[genedx.com] Enthesopathy (calcification of tendons, ligaments, and joint capsules) is a common finding. 17 Laboratory Findings Hypophosphatemia and normal to slightly low calcium, normal[consultant360.com]

    Missing: Flattening of the Talar Dome
  • Vitamin D Deficiency

    […] in the PHEX gene.[ncbi.nlm.nih.gov] […] serum Calcium Normal serum Phosphate 400 IU daily (Vitadol C 0.3ml 10 drops daily) for 3 months 25(OH)D Normal serum Calcium Normal serum Phosphate 2000 IU daily (1.25mg[starship.org.nz] Low serum 25-hydoxyvitamin-D, high parathyroid hormone, normal serum phosphate and calcium levels, and normal renal function clinched the diagnosis of vitamin-D-deficiency[ncbi.nlm.nih.gov]

    Missing: Flattening of the Talar Dome
  • Hypophosphatemia

    Etiology The disease is caused by various mutations in the PHEX gene (Xp22.1) and is transmitted as an X-linked dominant trait with complete penetrance, but variable expressivity[orpha.net] Laboratory investigation disclosed hypophosphatemia, phosphaturia, elevated serum alkaline phosphatase activity, and normal serum calcium levels.[ncbi.nlm.nih.gov] Biochemical findings include elevated circulating levels of FGF-23 associated with hypophosphatemia, hyperphosphaturia, normal serum levels of calcium and parathyroid hormone[orpha.net]

    Missing: Flattening of the Talar Dome
  • Familial Teutschlaender Disease

    Serum creatinine and calcium were within the normal range and serum PTH was inappropriately normal (4.5 pmol/l).[bone-abstracts.org] Serum calcium, 25(OH) vitamin D, renal functions, albumin, alkaline phosphatase, parathormone hormone, and phosphorous were normal apart from hyperphoshatemia in both siblings[ard.bmj.com] […] serum calcium levels.[casereports.bmj.com]

    Missing: Flattening of the Talar Dome Mutation in the PHEX Gene
  • Oncogenic Osteomalacia

    DNA from OOM tumor cells was analyzed for mutations in the PHEX gene, which is mutated in HYP.[ncbi.nlm.nih.gov] Matrix Enter text Cortex Enter text Soft tissue mass Enter text Laboratories Elevated Fibroblast growth factor 23 (FGF-23) Normal or low serum calcium Normal intact PTH Normal[orthopaedicsone.com] Laboratory data showed serum hypophosphatemia, elevated alkaline phosphatase, normal serum calcium levels, and normal parathyroid hormone levels.[e-ceo.org]

    Missing: Flattening of the Talar Dome
  • Neonatal Severe Primary Hyperparathyroidism

    It is unclear whether the mutant PHEX gene can induce hyperparathyroidism by abnormal regulation of peptidases [38].[wikigenes.org] Calcium levels normalized (10.4 mg/dl) within 4 weeks and phosphorus levels rose to near normal (4.3 mg/dl) ( Fig. 2 A).[edmcasereports.com] By the end of the fourth postoperative week, serum calcium level was in normal range while receiving oral calcium supplement.[theijcp.org]

    Missing: Flattening of the Talar Dome
  • Osteomalacia

    Serum biochemical studies revealed low serum phosphorus, low 25-hydroxy vitamin D3, normal calcium, elevated parathyroid hormone, and alkaline phosphatase levels.[ncbi.nlm.nih.gov] Mutations in phosphate-regulating gene ( PHEX ) lead to X-linked hypophosphatemic rickets (XLH), a genetic disease characterized by impaired mineralization in bones and teeth[doi.org] : slightly decreased / normal urinary calcium: decreased serum phosphorus: decreased serum alkaline phosphatase: elevated serum parathyroid hormone: elevated Musculoskeletal[radiopaedia.org]

    Missing: Flattening of the Talar Dome
  • Hypophosphatemic Rickets

    These data extend the spectrum of mutations in the PHEX gene in Han Chinese and confirm variability for XLH in Taiwan.[ncbi.nlm.nih.gov] The laboratory tests revealed slightly decreased phosphate and 25-hydroxyvitamin D3, high alkaline phosphatase, normal calcium and parathyroid hormone (PTH).[ncbi.nlm.nih.gov] Laboratory data showed normal calcium, low phosphate with markedly elevated ALP, and low phosphate renal tubular reabsorption.[ncbi.nlm.nih.gov]

    Missing: Flattening of the Talar Dome

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