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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]
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]
References
- Pseudopseudohypoparathyroidism. Online Mendelian Inheritance of Man. http://www.ncbi.nlm.nih.gov/omim/612463. Accessed April 1, 2011.
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- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Pseudopseudohypoparathyroidism. Click on the link to go to OMIM and review these resources.