Print friendly version
Pseudohypoparathyroidism type 1A
Other Names for this Disease
- Albright hereditary osteodystrophy with multiple hormone resistance
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
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 results in the characteristic symptoms which are generally first seen in childhood. There are two different types of pseudohypoparathyroidism. Type 1A is caused by a mutation in the GNAS gene and is inherited in an autosomal dominant manner. This defect also causes short stature, a round face, and short hand bones, which is referred to as Albright's hereditary osteodystrophy.Pseudohypoparathyroidism type 1A is a genetic disorder that resembles
Last updated: 10/7/2011
- Topiwala S. Pseudohypoparathyroidism. MedlinePlus. July 2012; http://www.nlm.nih.gov/medlineplus/ency/article/000364.htm. Accessed 10/17/2012.
- Pseudohypoparathyroidism type 1A. Online Mendelian Inheritance of Man (OMIM). June 2010; http://omim.org/entry/103580. Accessed 10/7/2011.
Your Questions Answeredby the Genetic and Rare Diseases Information Center
Please contact us with your questions about Pseudohypoparathyroidism type 1A. We will answer your question and update these pages with new resources and information.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic. Click on the link to view this information.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
In Depth Information
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Pseudohypoparathyroidism type 1A. Click on the link to go to OMIM and review these resources.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Pseudohypoparathyroidism type 1A. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Mantovani G et al., Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients. J Clin Endocrinol Metab. 2010 Feb;95(2):651-8. Epub 2010 Jan 8.
- Maeda SS, Fortes EM, Oliveira UM, Borba VC, Lazaretti-Castro M. Hypoparathyroidism and pseudohypoparathyroidism. Arq Bras Endocrinol Metabol. 2006 Aug;50(4):664-73. Review.
- Donghi V et al., Pseudohypoparathyroidism, an often delayed diagnosis: a case series. Cases J. 2009; 2: 6734.