Pseudohypoparathyroidism causes: Difference between revisions
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==Causes== | ==Causes== | ||
* Pseudohypoparathyroidism is caused by [[mutations]] that | * Pseudohypoparathyroidism is caused by [[mutations]] that result in end-organ resistance to [[parathyroid hormone]] like:<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> | ||
**[[Heterozygous]] GNAS inactivating [[mutations]] that reduce expression or function of Gαs | **[[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 [[GNAS1|GNAS]] | **Familial-[[heterozygous]] deletions in STX16, NESP55, and/or AS [[exons]] or loss of [[methylation]] at [[GNAS1|GNAS]] | ||
**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|parathyroid hormone,]] resistance [[Pseudohypoparathyroidism pathophysiology#Genetics|click here]] | ||
==References== | ==References== | ||
Latest revision as of 13:06, 26 October 2017
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Pseudohypoparathyroidism Microchapters |
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Differentiating Pseudohypoparathyroidism from other Diseases |
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Pseudohypoparathyroidism causes On the Web |
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Risk calculators and risk factors for Pseudohypoparathyroidism causes |
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 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
- ↑ 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.