[GNAS1 gene abnormality in pseudohypoparathyroidism I a].

Abstract

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.

• Authors: Keiichi Ozono
• Journal: Clinical calcium (Clin Calcium) Vol. 17 Issue 8 Pg. 1214-9 (Aug 2007) ISSN: 0917-5857 [Print] Japan
• PMID: 17660618 (Publication Type: Journal Article, Review)

Chemical References

• Chromogranins
• Hydroxycholecalciferols
• GNAS protein, human
• GTP-Binding Protein alpha Subunits, Gs
• Calcitriol
• alfacalcidol

Topics

• Calcitriol (therapeutic use)
• Chromogranins
• Fibrous Dysplasia, Polyostotic (genetics)
• GTP-Binding Protein alpha Subunits, Gs (genetics)
• Humans
• Hydroxycholecalciferols (therapeutic use)
• Mutation
• Pseudohypoparathyroidism (diagnosis, drug therapy, genetics)
• Pseudopseudohypoparathyroidism (genetics)
• Signal Transduction