Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Pseudohypoparathyroidism causes
Introduction
Overview
Overview
Pseudohypoparathyroidism is caused by mutations involving primarily the GNAS gene that results in end organ resistance to parathyroid hormone.
Causes
Causes
- Pseudohypoparathyroidism is caused by mutations that result in end-organ resistance to parathyroid hormone like:[1]
- Heterozygous GNAS inactivating mutations that reduce expression or function of Gαs
- Familial-heterozygous deletions in STX16, NESP55, and/or AS exons or loss of methylation at GNAS
- Sporadic-paternal uniparental disomy of chromosome 20q in some or methylation defect affecting all four GNAS genes
- Combination of inactivating mutations of GNAS1 and Albright’s osteodystrophy
- For a complete review of genes involved in pseudohypoparathyroidism and associated parathyroid hormone, resistance click here
References
References
- ↑ Lemos MC, Thakker RV (2015). “GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders”. Hum. Mutat. 36 (1): 11–9. doi:10.1002/humu.22696. PMC 4309471. PMID 25219572.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]