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63 Possible Causes for Defect in Dentin Maturation, 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] Gene mutations in PHEX prevent it from correctly regulating fibroblast growth factor 23.[en.wikipedia.org]

  • Hereditary Hypophosphatemic Rickets with Hypercalciuria

    This process is due to mutations in the FGF23 and PHEX gene.[ivami.com] ARHR is caused by inactivating mutations in the DMP1 gene, which encodes Dentin matrix protein 1 and results in increased FGF 23 expression and defective osteocyte maturation[scielo.mec.pt] The most common form is the X-linked dominant hypophosphatemic rickets caused by inactivating mutations in the PHEX gene.[medigraphic.com]

    Missing: Flattening of the Talar Dome
  • Familial Hypophosphatemia

    X-linked dominant hypophosphatemic rickets, due to mutations in the PHEX gene, is the most common inherited form of the disorder.[genedx.com] Since, the gene mutation occurs on the X chromosome, it is called an X-linked disorder Familial Hypophosphatemia is caused by a mutation in the PHEX gene, leading to defective[dovemed.com] Mutated in X-Linked Dominant Hypophosphatemic Rickets Genome Research 7 573-585 (1997) Dixon, PH et al., Mutational Analysis of PHEX Gene in X-linked Hypophosphatemia J Clin[genedx.com]

    Missing: Defect in Dentin Maturation Flattening of the Talar Dome
  • Vitamin D Deficiency

    […] in the PHEX gene.[ncbi.nlm.nih.gov] […] his lower extremities, and was ultimately diagnosed with X-linked hypophosphatemic rickets, a disorder caused by renal wasting of phosphate that occurs as a result of a mutation[ncbi.nlm.nih.gov]

    Missing: Defect in Dentin Maturation 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]

    Missing: Defect in Dentin Maturation Flattening of the Talar Dome
  • Congenital Clubfoot

    Flattening of the talar dome persists on this view as well (see the image below).[emedicine.com] Five of these feet showed flattening of the dome of the talus and three hypoplasia of the talar head and neck at the most recent follow-up.[ncbi.nlm.nih.gov] Note the characteristic flattening of the talar dome on this true lateral view of the ankle.[emedicine.com]

    Missing: Defect in Dentin Maturation Mutation in the PHEX Gene
  • X-Linked Osteoporosis with Fractures

    […] in the PHEX gene (phosphate-regulating gene with homologies to endopeptidase on the X chromosome).[iofbonehealth.org] […] phenotype number #307800 ) See FACT SHEET X-Linked Hypophosphatemia (XLH) X-linked, dominant, hypophosphatemic rickets (XLHR) is a genetic disorder caused by inactivating mutations[iofbonehealth.org]

    Missing: Defect in Dentin Maturation Flattening of the Talar Dome
  • Autosomal Dominant Distal Renal Tubular Acidosis

    […] in the PHEX gene Pathophysiology : : mutation in the PHEX gene increased levels of FGF23 (by an unknown mechanism) indirect inhibition of the sodium- phosphate cotransporter[amboss.com] […] excretion) NH 4 excretion Normal or calcium excretion Treatment References: [1] [2] [3] X-linked hypophosphatemic rickets Etiology : X-linked dominant disease caused by a mutation[amboss.com]

    Missing: Defect in Dentin Maturation 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] Enzymatic interactions of HRPT1 Four small families with a family history of hyperparathyroidism without clear- cut MEN-1 features were screened for a MEN1 mutation [36].[wikigenes.org]

    Missing: Defect in Dentin Maturation 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] In previous studies, mutations in the PHEX gene were detected in 60-70% of patients with clinical diagnoses of XLHR.[ncbi.nlm.nih.gov] CONCLUSION: Our report identifies a novel nonsense mutation in the PHEX gene causing XLH.[ncbi.nlm.nih.gov]

    Missing: Defect in Dentin Maturation Flattening of the Talar Dome