[GNAS1 gene abnormality in pseudohypoparathyroidism I a].
Pseudophypoparathyroidism (PHP) is characterized by hypocalcemia, hyperphosphatemia and elevated levels of parathyroid hormone (PTH) due to resistance to PTH. PHP type I a is caused by heterozygous inactivating mutation of the GNAS1 gene, which encodes signal transducer, Gsalpha. PHP type I a is associated with Albright's osteodystrophy (AHO). Those patients who have AHO phenotype without hormone resistance are affected by pseudopseudohypoparathyroidism.
Ozono
Keiichi
K
Osaka University Graduate School of Medicine, Department of Pediatrics, Japan.
D002117:Calcitriol / Q000627:therapeutic use; D002864:Chromogranins; D005359:Fibrous Dysplasia, Polyostotic / Q000235:genetics; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D006801:Humans; D006887:Hydroxycholecalciferols / Q000627:therapeutic use; D009154:Mutation; D011547:Pseudohypoparathyroidism / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D011556:Pseudopseudohypoparathyroidism / Q000235:genetics; D015398:Signal Transduction
D002864:Chromogranins; D006887:Hydroxycholecalciferols; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs; D002117:Calcitriol; C008088:alfacalcidol