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217 Possible Causes for Deformed Rib Cage, Flattening of the Talar Dome, Mutation in the PHEX Gene

  • Hereditary Hypophosphatemic Rickets with Hypercalciuria

    This process is due to mutations in the FGF23 and PHEX gene.[ivami.com] The most common form is the X-linked dominant hypophosphatemic rickets caused by inactivating mutations in the PHEX gene.[medigraphic.com] This ruled out XLRH, which is the most common form of hereditary hypophosphatemic rickets that is due to inactivating mutations in the gene PHEX (OMIM# 307800) and where the[revistanefrologia.com]

    Missing: Flattening of the Talar Dome
  • 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]

    Missing: Deformed Rib Cage
  • Oncogenic Osteomalacia

    DNA from OOM tumor cells was analyzed for mutations in the PHEX gene, which is mutated in HYP.[ncbi.nlm.nih.gov] Findings Multiple bony deformities that were suggestive of old malunited fractures that involved the left humerus, rib cage, and spine were noted on a technetium (Tc)-99m[appliedradiology.com] Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia. PLoS One. 2014; 9(5): e97830.[journals.viamedica.pl]

    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: Deformed Rib Cage Flattening of the Talar Dome
  • Hypocalcemic Vitamin D-Dependent Rickets Type 1B

    XLH is considered to be a systemic disorder, from mutation of the phosphate-regulating gene homologous to endopeptidases on the X chromosome ( PHEX ).[emedicine.medscape.com] , sternum, clavicles, and scapulae]; Enlargement of the costochondral junction; 'Bulging' of the costochondral junction; Deformed rib cage ABDOMEN: [External features]; Protuberant[genome.jp] Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 2001 ; 86 : 3889 –99.[adc.bmj.com]

    Missing: Flattening of the Talar Dome
  • Tibia Varum

    Genetic testing attributed the condition to mutations in the PHEX gene located at Xp22.1 .[smw.ch] […] clavicles, and scapulae]; Enlargement and bulging of the costochondral junction; Deformed rib cage SKELETAL: Rickets ; Increased fractures; Bone pain; Sparse bone trabeculae[findzebra.com] cage, at the insertion of diaphragm, is referred to as Harrison groove. - the resultant deformities may cause a "pot belly" abdominal deformity; - extremities: - examination[wheelessonline.com]

    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] Bone abnormalities can include undermineralization, rib cage deformities, subperiosteal erosions, metaphyseal widening of the long bones, and fractures (1) .[edmcasereports.com] cage deformity, and long-bone and rib fractures [ 3 ].[ijpeonline.biomedcentral.com]

    Missing: 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: Deformed Rib Cage Flattening of the Talar Dome
  • Congenital Metatarsus Varus

    The talus is smaller than normal, with a flattened talar dome and a neck that is dislocated in a medial and plantar direction (Ippolito 1995).[rrnursingschool.biz] […] possibly with dislocated patellae, and chest deformities with flaring of the rib cage and pectus carinatum may appear.[boneandspine.com] With growth , trunk shortness becomes more apparent and asymmetrical deformities of the elbow, hip flexion deformities sometimes with dislocation, genu valgum or recurvatum[boneandspine.com]

    Missing: Mutation in the PHEX Gene
  • 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: Deformed Rib Cage Flattening of the Talar Dome