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 145 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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Increased Prevalence of Sleep Apnea in Children with Pseudohypoparathyroidism Type 1a.
 

Author(s): Hannah Landreth, Beth A Malow, Ashley H Shoemaker

Journal: Horm Res Paediatr. 2015 ;84(1):1-5.

 

Pseudohypoparathyroidism type 1a (PHP1a) is a rare genetic disorder. This study aimed to determine the prevalence of sleep apnea in children with PHP1a.

Last Updated: 17 Aug 2015

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Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib.
 

Author(s): Shinichiro Sano, Hiromi Iwata, Keiko Matsubara, Maki Fukami, Masayo Kagami, Tsutomu Ogata

Journal: Endocr. J.. 2015 ;62(6):523-9.

 

Pseudohypoparathyroidism (PHP) is associated with compromised signal transductions via PTH receptor (PTH-R) and other G-protein-coupled receptors including GHRH-R. To date, while GH deficiency (GHD) has been reported in multiple patients with PHP-Ia caused by mutations on the maternally ...

Last Updated: 30 Jul 2015

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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

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Early-onset Obesity and Cognitive Impairment in Children With Pseudohypoparathyroidism
 

Status: Recruiting

Condition Summary: Pseudohypoparathyroidism; Albright Hereditary Osteodystrophy

 

Last Updated: 7 Apr 2015

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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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Theophylline as a Treatment for Children With Pseudohypoparathyroidism Type 1a (Albright Hereditary Osteodystrophy)
 

Status: Recruiting

Condition Summary: Pseudohypoparathyroidism Type 1a; Albright Hereditary Osteodystrophy

 

Last Updated: 2 Jun 2015

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