Pseudohypoparathyroidism type 1B

Common Name(s)

Pseudohypoparathyroidism type 1B

Pseudohypoparathyroidism type 1B 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. Type 1B involves resistance to PTH only in the kidneys. Affected individuals usually do not have an abnormal physical appearance and usually do not exhibit other endocrine abnormalities. This condition is inherited in an autosomal dominant pattern and is caused by a mutation in either the GNAS gene or STX16 gene.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pseudohypoparathyroidism type 1B" 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 1B" returned 11 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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Osteosarcoma in a Patient With Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q.
 

Author(s): Hye-Sun Park, Chang Gon Kim, Namki Hong, Seok Joo Lee, Da Hea Seo, Yumie Rhee

Journal: J. Bone Miner. Res.. 2017 04;32(4):770-775.

 

It is assumed that a persistent high level of parathyroid hormone (PTH) might have a relation with bone malignancy. However, there has been no report of osteosarcoma associated with pseudohypoparathyroidism type 1b (PHP1b), which is accompanied by high PTH. PHP1b is the result of ...

Last Updated: 31 Dec 1969

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Pseudohypoparathyroidism type 1B caused by methylation changes at the GNAS complex locus.
 

Author(s): Sabrina Poradosu, Bert Bravenboer, Rieko Takatani, Harald Jüppner

Journal:

 

Pseudohypoparathyroidism type 1B (PHP1B) consists of a heterogeneous group of disorders characterised by resistance to parathyroid hormone (PTH). There are several different PHP1B subtypes that are all associated with methylation changes at GNAS. These epigenetic changes are caused ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "Pseudohypoparathyroidism type 1B" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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