Create issue ticket

5,715 Possible Causes for Flattening of the Talar Dome, Mutation in the PHEX Gene, Pediatric Disorder

  • 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] Genetic disorders of phosphate regulation. Pediatr Nephrol. 2012;27(9):1477-87. Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL.[rarediseases.org]

  • 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] Genetic disorders of phosphate regulation. Pediatr Nephrol. 2012;27(9):1477-87. Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL.[rarediseases.org] 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]

    Missing: Flattening of the Talar Dome
  • Vitamin D Deficiency

    […] in the PHEX gene.[ncbi.nlm.nih.gov] Hypocalcemic and hypercalcemic disorders in children . Current Problems in Pediatrics, Vol. 19, Issue. 10, p. 497. CrossRef Google Scholar Poskitt, E.M.E. 1988.[doi.org] […] 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: Flattening of the Talar Dome
  • Congenital Clubfoot

    Flattening of the talar dome persists on this view as well (see the image below).[emedicine.com] Hecht, Insights into the Genetics of Clubfoot, Molecular Genetics of Pediatric Orthopaedic Disorders, 10.1007/978-1-4939-2169-0_6, (91-103), (2015).[doi.org] Authors’ Affiliations (1) Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science[bmcmusculoskeletdisord.biomedcentral.com]

    Missing: Mutation in the PHEX Gene
  • Proximal 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] .); and the Department of Pediatrics, University of California–San Diego, La Jolla (J.A.S.). Address reprint requests to Dr.[content.nejm.org] Pediatric Nephrology 20.6 (2005): 814-817.[derangedphysiology.com]

    Missing: Flattening of the Talar Dome
  • 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] Ruhan Dusunsel Division of Pediatric Nephrology, Montreal Children's Hospital, Montreal, Canada.[nature.com] Hulton National Institute on Deafness and Other Communication Disorders, Rockville, Maryland, USA Doris K.[doi.org]

    Missing: Flattening of the Talar Dome
  • Acute Gastroenteritis

    Seventy children with acute gastroenteritis and their parents completed the Rome III Diagnostic Questionnaire for Pediatric Functional GI Disorders and the Children's Somatization[ncbi.nlm.nih.gov] Disorders of water metabolism in children: hyponatremia and hypernatremia.[frontiersin.org] J Pediatr. 1997 Dec. 131(6):801-8. [Medline]. Salminen S, Isolauri E, Onnela T. Gut flora in normal and disordered states. Chemotherapy. 1995. 41 suppl 1:5-15.[emedicine.medscape.com]

    Missing: Flattening of the Talar Dome Mutation in the PHEX Gene
  • Tibia Varum

    Genetic testing attributed the condition to mutations in the PHEX gene located at Xp22.1.[smw.ch] Succinct, targeted coverage of normal childhood growth and development, as well as the diagnosis, management, and prevention of common pediatric diseases and disorders, make[books.google.ro] It is associated with a mutation in the PHEX gene sequence (Xp.22) and subsequent inactivity of the PHEX protein. The prevalence of the disease is 1:20000.[findzebra.com]

    Missing: Flattening of the Talar Dome
  • Acute Alcohol Intoxication

    The inactive ALDH2(2) allele is dominant , J Clin Invest , 1989 , vol. 83 (pg. 314 - 6 ) Diagnostic and Statistical Manual of Mental Disorders , 2000 4th ed Washington, DC[academic.oup.com] American Psychiatry Association Text Revision Estimated blood alcohol concentrations for child and adolescent drinking and their implications for screening instruments , Pediatrics[academic.oup.com]

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

    Mousa, The value of fluoroscopic defecography in the diagnostic and therapeutic management of defecation disorders in children, Pediatric Radiology, 45, 2, (173), (2015).[doi.org] Major symptoms and signs of digestive tract disorders. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed.[nlm.nih.gov]

    Missing: Flattening of the Talar Dome Mutation in the PHEX Gene