Pseudohypoparathyroidism

Common Name(s)

Pseudohypoparathyroidism

Pseudohypoparathyroidism is a genetic disorder that resembles hypoparathyroidism (lowered levels of parathyroid hormone), but is caused by a lack of response to parathyroid hormone rather than having too little of the hormone itself. This condition is very similar to hypoparathyroidism, with low calcium levels and high phosphate levels in the blood. This results in the characteristic symptoms which are generally first seen in childhood. There are two different types of pseudohypoparathyroidism, both of which are caused by abnormal genes. Type 1 can be further divided into three sub-types. Click on the links below for more information on the various types of pseudohypoparathyroidism.

Pseudohypoparathyroidism type 1A
Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1C
Pseudohypoparathyroidism type 2
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pseudohypoparathyroidism" 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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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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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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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 "Pseudohypoparathyroidism" returned 148 free, full-text research articles on human participants. First 3 results:

Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.
 

Author(s): Anne Rochtus, Alejandro Martin-Trujillo, Benedetta Izzi, Francesca Elli, Intza Garin, Agnes Linglart, Giovanna Mantovani, Guiomar Perez de Nanclares, Suzanne Thiele, Brigitte Decallonne, Chris Van Geet, David Monk, Kathleen Freson

Journal:

 

Pseudohypoparathyroidism (PHP) is caused by (epi)genetic defects in the imprinted GNAS cluster. Current classification of PHP patients is hampered by clinical and molecular diagnostic overlaps. The European Consortium for the study of PHP designed a genome-wide methylation study to ...

Last Updated: 28 Jan 2016

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Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion.
 

Author(s): Rieko Takatani, Angelo Molinaro, Giedre Grigelioniene, Olta Tafaj, Tomoyuki Watanabe, Monica Reyes, Amita Sharma, Vibha Singhal, F Lucy Raymond, Agnès Linglart, Harald Jüppner

Journal: J. Bone Miner. Res.. 2016 Apr;31(4):796-805.

 

Proximal tubular resistance to parathyroid hormone (PTH) resulting in hypocalcemia and hyperphosphatemia are preeminent abnormalities in pseudohypoparathyroidism type Ib (PHP1B), but resistance toward other hormones as well as variable features of Albright's Hereditary Osteodystrophy ...

Last Updated: 9 Apr 2016

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Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene.
 

Author(s): Manuel C Lemos, Paul T Christie, Dírcea Rodrigues, Rajesh V Thakker

Journal: Clin. Endocrinol. (Oxf). 2016 Mar;84(3):463-5.

 

Last Updated: 16 Feb 2016

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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 "Pseudohypoparathyroidism" returned 6 free, full-text review articles on human participants. First 3 results:

GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.
 

Author(s): Manuel C Lemos, Rajesh V Thakker

Journal: Hum. Mutat.. 2015 Jan;36(1):11-9.

 

Pseudohypoparathyroidism type 1a (PHP1a) is characterized by hypocalcaemia and hyperphosphatemia due to parathyroid hormone resistance, in association with the features of Albright's hereditary osteodystrophy (AHO). PHP1a is caused by maternally inherited inactivating mutations of ...

Last Updated: 5 Jan 2015

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An update on the clinical and molecular characteristics of pseudohypoparathyroidism.
 

Author(s): Michael A Levine

Journal: Curr Opin Endocrinol Diabetes Obes. 2012 Dec;19(6):443-51.

 

To provide the reader with a review of contemporary literature describing the evolving understanding of the molecular pathobiology of pseudohypoparathyroidism (PHP).

Last Updated: 6 Nov 2012

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Hypoparathyroidism and pseudohypoparathyroidism.
 

Author(s): Sergio S Maeda, Erika M Fortes, Ulisses M Oliveira, Victoria C Z Borba, Marise Lazaretti-Castro

Journal: Arq Bras Endocrinol Metabol. 2006 Aug;50(4):664-73.

 

The principal function of the parathyroid hormone (PTH) is maintenance of calcium plasmatic levels, withdrawing the calcium from bone tissue, reabsorbing it from the glomerular filtrate, and indirectly increasing its intestinal absorption by stimulating active vitamin D (calcitriol) ...

Last Updated: 22 Nov 2006

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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

Albright Hereditary Osteodystrophy: Growth Hormone Trial and Cognitive/Behavioral Assessments
 

Status: Recruiting

Condition Summary: Pseudohypoparathyroidism Type 1a; Albright Hereditary Osteodystrophy

 

Last Updated: 23 Aug 2016

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Characterization of Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism
 

Status: Recruiting

Condition Summary: Idiopathic Hypoparathyroidism; Autosomal Dominant Hypocalcaemia; Pseudohypoparathyroidism

 

Last Updated: 26 May 2016

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Resistance to Vitamin D or Parathyroid Hormone
 

Status: Recruiting

Condition Summary: Hypocalcemia; Pseudohypoparathyroidism; Albright Hereditary Osteodystrophy; Rickets

 

Last Updated: 14 Dec 2016

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