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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General Support Organizations

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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 163 free, full-text research articles on human participants. First 3 results:

Pseudohypoparathyroidism type 1B associated with assisted reproductive technology.
 

Author(s): Monica Fernandez, Maria Jose Zambrano, Joel Riquelme, Claudia Castiglioni, Marie-Laure Kottler, Harald Jüppner, Veronica Mericq

Journal: J. Pediatr. Endocrinol. Metab.. 2017 Oct;30(10):1125-1132.

 

Evidence suggests an increased incidence of imprinting disorders in children conceived by assisted reproductive technologies (ART). Maternal loss-of-methylation at GNAS exon A/B, observed in pseudohypoparathyroidism type 1b (PHP1B), leads to decreased expression of the stimulatory ...

Last Updated: 31 Dec 1969

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Pseudohypoparathyroidism with basal ganglia calcification: A case report of rare cause of reversible parkinsonism.
 

Author(s): Cheng-Yuan Song, Zhen-Xiang Zhao, Wei Li, Cong-Cong Sun, Yi-Ming Liu

Journal: Medicine (Baltimore). 2017 Mar;96(11):e6312.

 

Parkinsonism can be secondary to many internal diseases, in some certain conditions, it seems that the clinical manifestations of parkinsonism presenting reversible. We report a case of patient with parkinsonism secondary to pseudohypoparathyroidism, who improved markedly after the ...

Last Updated: 31 Dec 1969

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A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).
 

Author(s): Giedre Grigelioniene, Pasi I Nevalainen, Monica Reyes, Susanne Thiele, Olta Tafaj, Angelo Molinaro, Rieko Takatani, Marja Ala-Houhala, Daniel Nilsson, Jesper Eisfeldt, Anna Lindstrand, Marie-Laure Kottler, Outi Mäkitie, Harald Jüppner

Journal: J. Bone Miner. Res.. 2017 04;32(4):776-783.

 

Pseudohypoparathyroidism type Ib (PHP1B) is characterized primarily by resistance to parathyroid hormone (PTH) and thus hypocalcemia and hyperphosphatemia, in most cases without evidence for Albright hereditary osteodystrophy (AHO). PHP1B is associated with epigenetic changes at one ...

Last Updated: 31 Dec 1969

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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 8 free, full-text review articles on human participants. First 3 results:

Nonclassic features of pseudohypoparathyroidism type 1A.
 

Author(s): Ashley H Shoemaker, Harald Jüppner

Journal: Curr Opin Endocrinol Diabetes Obes. 2017 Feb;24(1):33-38.

 

To provide readers with a review of contemporary literature describing the evolving understanding of the pseudohypoparathyroidism type 1A (PHP1A) phenotype.

Last Updated: 31 Dec 1969

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From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network.
 

Author(s): Susanne Thiele, Giovanna Mantovani, Anne Barlier, Valentina Boldrin, Paolo Bordogna, Luisa De Sanctis, Francesca M Elli, Kathleen Freson, Intza Garin, Virginie Grybek, Patrick Hanna, Benedetta Izzi, Olaf Hiort, Beatriz Lecumberri, Arrate Pereda, Vrinda Saraff, Caroline Silve, Serap Turan, Alessia Usardi, Ralf Werner, Guiomar Perez de Nanclares, Agnès Linglart

Journal: Eur. J. Endocrinol.. 2016 Dec;175(6):P1-P17.

 

Disorders caused by impairments in the parathyroid hormone (PTH) signalling pathway are historically classified under the term pseudohypoparathyroidism (PHP), which encompasses rare, related and highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Theophylline Treatment for Pseudohypoparathyroidism
 

Status: Recruiting

Condition Summary: Pseudohypoparathyroidism; Albright Hereditary Osteodystrophy

 

Last Updated: 12 Jun 2018

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Albright Hereditary Osteodystrophy: Natural History, Growth, and Cognitive/Behavioral Assessments
 

Status: Recruiting

Condition Summary: Pseudohypoparathyroidism Type 1A; Albright Hereditary Osteodystrophy

 

Last Updated: 14 Aug 2017

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Resistance to Vitamin D or Parathyroid Hormone
 

Status: Recruiting

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

 

Last Updated: 27 Mar 2018

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