Pseudohypoparathyroidism type 1C

Common Name(s)

Pseudohypoparathyroidism type 1C

Pseudohypoparathyroidism type 1C is a genetic disorder that resembles hypoparathyroidism (lowered levels of parathyroid hormone), but is caused by a lack of response to parathyroid hormone rather than having too little of the hormone itself. This condition is very similar to hypoparathyroidism, with low calcium levels and high phosphate levels in the blood. This condition is also associated with short stature, a round face, and short hand bones, which is referred to as Albright's hereditary osteodystrophy. It is distinguished from pseudohypoparathyroidism type 1A because those with type 1C do not have a defect in activity of a particular protein. It is inherited in an autosomal dominant fashion and is caused by a specific mutation in the GNAS gene.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pseudohypoparathyroidism type 1C" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
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The terms "Pseudohypoparathyroidism type 1C" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.