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Diseases

Genetic and Rare Diseases Information Center (GARD)

Pseudopseudohypoparathyroidism


Other Names for this Disease
  • PPHP
  • Albright hereditary osteodystrophy without multiple hormone resistance
  • Pseudopseudo-Hypoparathyroidism
  • Pseudo-Pseudohypoparathyroidism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Pseudopseudohypoparathyroidism (PPHP) is an inherited condition that causes short stature, round face, and short hand bones.[1][2] PPHP causes joints and other soft tissues in the body to harden. It also affects how bones are formed. As a result, PPHP can cause bone, joint, and nerve damage, and this damage can cause lasting pain.[3] Some people with PPHP (10%) also have learning disability.[2] PHPP is caused by mutations in the GNAS gene and is inherited in an autosomal dominant fashion. This condition is usually inherited from the father (genomic imprinting).[1]

PPHP is genetically related to pseudohypoparathyroidism type Ia (PHP-1a). Signs and symptoms are similar, however people with PPHP do not show resistance to parathyroid hormone while people with PHP-1a do. Obesity is characteristic for PHP-1a and may be severe, while obesity is less prominent and may be absent among people with PPHP. Both PHP-1a and PPHP are caused by mutations that affect the function of the GNAS gene. But people who inherit the mutation from their mother develop PHP-1a; whereas those who inherit the mutation from their father develop PPHP.[1]
Last updated: 3/9/2016

References

  1. Pseudopseudohypoparathyroidism. Online Mendelian Inheritance of Man. November 2010; http://www.ncbi.nlm.nih.gov/omim/612463. Accessed 4/1/2011.
  2. Mantovani G. Pseudopseudohypoparathyroidism. Orphanet. October 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445.
  3. Iwase T, Nokura K, Mizuno T, Inagaki T. Spastic tetraparesis in a patient with pseudopseudohypoparathyroidism. J Neurol. 2002 Oct;249(10):1457-8; http://www.ncbi.nlm.nih.gov/pubmed/12532935. Accessed 3/18/2013.
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In Depth Information

  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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 Pseudopseudohypoparathyroidism. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • PPHP
  • Albright hereditary osteodystrophy without multiple hormone resistance
  • Pseudopseudo-Hypoparathyroidism
  • Pseudo-Pseudohypoparathyroidism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.