Pseudopseudohypoparathyroidism

Common Name(s)

Pseudopseudohypoparathyroidism

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).

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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pseudopseudohypoparathyroidism" for support, advocacy or research.

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Hypoparathyroidism UK

Working to improve the lives of people with hypoparathyroidism and other parathyroid conditions.

Last Updated: 1 Apr 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pseudopseudohypoparathyroidism" for support, advocacy or research.

Logo
Hypoparathyroidism UK

Working to improve the lives of people with hypoparathyroidism and other parathyroid conditions.

http://www.hpth.org.uk

Last Updated: 1 Apr 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pseudopseudohypoparathyroidism" returned 5 free, full-text research articles on human participants. First 3 results:

A patient with acute-onset HAM/TSP after blood transfusion complicated with pseudopseudohypoparathyroidism.
 

Author(s): Yoshihiro Yoshida, Naoko Machigashira, Sha-yan Wang, Mitsuhiro Osame

Journal: Intern. Med.. 2002 Oct;41(10):899-900.

 

Last Updated: 4 Nov 2002

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Hemifacial spasm in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism and nephrogenic diabetes insipidus--case report.
 

Author(s): H Oyama, Y Kida, T Tanaka, T Iwakoshi, M Niwa, R Kitamura, T Kobayashi

Journal: Neurol. Med. Chir. (Tokyo). 1995 Jun;35(6):380-4.

 

A 30-year-old male with Albright's hereditary osteodystrophy, pseudopseudohypoparathyroidism, and nephrogenic diabetes insipidus presented with hemifacial spasm persisting for 2 years. This association is extremely unusual. Angiography revealed markedly tortuous carotid and vertebral ...

Last Updated: 2 Nov 1995

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Pseudopseudohypoparathyroidism and spinal cord compression.
 

Author(s): P J Goadsby, Y Lollin, R S Kocen

Journal: J. Neurol. Neurosurg. Psychiatr.. 1991 Oct;54(10):929-31.

 

A 42 year old Greek male with pseudo-pseudohypoparathyroidism presented with difficulty in walking and with lower limb weakness. His physical signs included short stature, thick neck, short fourth metacarpals and metatarsals, and a spastic paraparesis. Serum calcium and phosphate ...

Last Updated: 14 Jan 1992

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pseudopseudohypoparathyroidism" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Growth Hormone Use in Albright Hereditary Osteodystrophy
 

Status: Recruiting

Condition Summary: Pseudohypoparathyroidism Type 1a; Albright Hereditary Osteodystrophy

 

Last Updated: 27 Feb 2014

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Resistance to Vitamin D or Parathyroid Hormone
 

Status: Recruiting

Condition Summary: Hypocalcemia; Osteomalacia; Pseudohypoparathyroidism; Pseudo-Pseudohypoparathyroidism; Rickets

 

Last Updated: 13 Jun 2014

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