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Pseudohypoparathyroidism type 1B


Other Names for this Disease

  • PHP1B
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Overview

Pseudohypoparathyroidism type 1B (PHP1B) is a genetic disorder that is caused by a lack of response (resistance) to parathyroid hormone (PTH) and other hormones such as thyroid-stimulating hormone (TSH). This condition is very similar to hypoparathyroidism (in which not enough PTH is produced), causing low calcium levels and high phosphate levels in the blood. Resistance to PTH in individuals with type 1B may be limited to the kidneys. The severity of the condition can vary considerably among affected individuals, even within the same family. Most individuals do not have an abnormal physical appearance and usually do not exhibit other endocrine abnormalities. In some cases, PHP1B is inherited in an autosomal dominant manner and is caused by mutations in either the GNAS or STX16 genes. In other cases, it has been shown to be sporadic (not inherited), caused by imprinting defects in the GNAS gene.[1][2][3][4] The goals of treatment are to correct the calcium deficiency and prevent complications.[3]
Last updated: 7/8/2013

References

  1. Topiwala S. Pseudohypoparathyroidism. MedlinePlus. July 2012; http://www.nlm.nih.gov/medlineplus/ency/article/000364.htm. Accessed 10/17/2012.
  2. Pseudohypoparathyroidism type 1B . Online Mendelian Inheritance of Man (OMIM). June 2010; http://omim.org/entry/603233. Accessed 10/7/2011.
  3. Mini R Abraham. Pseudohypoparathyroidism. Medscape Reference. April 23, 2013; http://emedicine.medscape.com/article/124836-overview. Accessed 7/8/2013.
  4. A. Dixit et al. Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q. The Journal of clinical endocrinology and metabolism. January 2013; 98(1):E103-E108 .
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Basic 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.
  • 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.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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 1B. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • PHP1B
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.