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Pseudohypoparathyroidism type 1C
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Overview
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.[1] 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.[1][2]
References
- Topiwala S. Pseudohypoparathyroidism. MedlinePlus. http://www.nlm.nih.gov/medlineplus/ency/article/000364.htm. Accessed October 17, 2012.
- Pseudohypoparathyroidism type 1C. Online Mendelian Inheritance of Man (OMIM). http://omim.org/entry/612462. Accessed October 7, 2011.
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- PubMed is a searchable database of medical literature and lists journal articles that discuss Pseudohypoparathyroidism type 1C. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Pseudohypoparathyroidism type 1C. Click on the link to go to OMIM and review these resources.