Pseudohypoparathyroidism type 1A

Common Name(s)

Pseudohypoparathyroidism type 1A

Pseudohypoparathyroidism type 1A 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. Type 1A is caused by a mutation in the GNAS gene and is inherited in an autosomal dominant manner. This defect also causes short stature, a round face, and short hand bones, which is referred to as Albright's hereditary osteodystrophy.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pseudohypoparathyroidism type 1A" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Pseudohypoparathyroidism type 1A" returned 11 free, full-text research articles on human participants. First 3 results:

Pseudohypoparathyroidism Type 1A-Subclinical Hypothyroidism and Rapid Weight Gain as Early Clinical Signs: A Clinical Review of 10 Cases.
 

Author(s): Simon Kayemba-Kay's, Cedric Tripon, Anne Heron, Peter Hindmarsh

Journal: J Clin Res Pediatr Endocrinol. 2016 12;8(4):432-438.

 

To evaluate the clinical signs and symptoms that would help clinicians to consider pseudohypoparathyroidism (PHP) type 1A as a diagnosis in a child.

Last Updated: 31 Dec 1969

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Resting Energy Expenditure Is Decreased in Pseudohypoparathyroidism Type 1A.
 

Author(s): Jeffrey D Roizen, Jennifer Danzig, Veronique Groleau, Shana McCormack, Alex Casella, Jennifer Harrington, Etienne Sochett, Andrew Tershakovec, Babette S Zemel, Virginia A Stallings, Michael A Levine

Journal: J. Clin. Endocrinol. Metab.. 2016 Mar;101(3):880-8.

 

Pseudohypoparathyroidism type 1A (PHP1A) is caused by loss-of-function mutations on the maternally inherited GNAS allele and is associated with early-onset obesity, neurocognitive defects, and resistance to multiple hormones. The role of energy intake vs central regulation of energy ...

Last Updated: 31 Dec 1969

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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: 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 type 1A" returned 2 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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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

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

Status: Recruiting

Condition Summary: Pseudohypoparathyroidism Type 1A; Albright Hereditary Osteodystrophy

 

Last Updated: 2 Oct 2018

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Theophylline Treatment for Pseudohypoparathyroidism
 

Status: Recruiting

Condition Summary: Pseudohypoparathyroidism; Albright Hereditary Osteodystrophy

 

Last Updated: 24 Sep 2018

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Resistance to Vitamin D or Parathyroid Hormone
 

Status: Recruiting

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

 

Last Updated: 10 Oct 2018

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