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Genetic and Rare Diseases Information Center (GARD)

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Pseudopseudohypoparathyroidism


Other Names for this Disease

  • Albright hereditary osteodystrophy without multiple hormone resistance
  • PPHP
  • Pseudo-Pseudohypoparathyroidism
  • Pseudopseudo-Hypoparathyroidism
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Overview

Pseudopseudohypoparathyroidism (PPHP) is an inherited condition characterized by the constellation of clinical features referred to as Albright hereditary osteodystrophy, which includes short stature, obesity, round face, and short hand bones. Some have intellectual disability. Affected individuals do not show resistance to parathyroid hormone (PTH) and thus do not have hypoparathyroidism. 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) in that both share the same signs and symptoms, except that individuals with PPHP do not show resistance to PTH as seen in individuals with PHP-1a. 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: 12/13/2011

References

  1. Pseudopseudohypoparathyroidism. Online Mendelian Inheritance of Man. November 2010; http://www.ncbi.nlm.nih.gov/omim/612463. Accessed 4/1/2011.
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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 Online Mendelian Inheritance in Man (OMIM) is an 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
  • Albright hereditary osteodystrophy without multiple hormone resistance
  • PPHP
  • Pseudo-Pseudohypoparathyroidism
  • Pseudopseudo-Hypoparathyroidism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.