Pseudohypoparathyroidism causes: Difference between revisions
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**Sporadic- paternal [[uniparental disomy]] of [[chromosome]] 20q in some or [[methylation]] defect affecting all four [[GNAS1|GNAS]] genes | **Sporadic- paternal [[uniparental disomy]] of [[chromosome]] 20q in some or [[methylation]] defect affecting all four [[GNAS1|GNAS]] genes | ||
**Combination of inactivating [[mutations]] of [[GNAS1]] and [[Albright's hereditary osteodystrophy|Albright's osteodystrophy]] | **Combination of inactivating [[mutations]] of [[GNAS1]] and [[Albright's hereditary osteodystrophy|Albright's osteodystrophy]] | ||
* For a complete review of genes involved in pseudohypoparathyroidism and associated [[parathyroid hormone]] resistance [[Pseudohypoparathyroidism pathophysiology#Genetics|click here]] | * For a complete review of genes involved in pseudohypoparathyroidism and associated [[parathyroid hormone]] resistance [[Pseudohypoparathyroidism pathophysiology#Genetics|click here]]<ref name="pmid25219572">{{cite journal |vauthors=Lemos MC, Thakker RV |title=GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders |journal=Hum. Mutat. |volume=36 |issue=1 |pages=11–9 |year=2015 |pmid=25219572 |pmc=4309471 |doi=10.1002/humu.22696 |url=}}</ref> | ||
==References== | ==References== | ||
Revision as of 19:10, 17 October 2017
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Pseudohypoparathyroidism Microchapters |
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Differentiating Pseudohypoparathyroidism from other Diseases |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]
Overview
Pseudohypoparathyroidism is caused by mutations involving primarily the GNAS gene that results in end organ resistance to parathyroid hormone.
Causes
- Pseudohypoparathyroidism is caused by mutations that results in end organ resistance to parathyroid hormone like:
- 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[1]
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.