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

Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b.
 

Author(s): Faisal I Rezwan, Rebecca L Poole, Trine Prescott, Joanna M Walker, I Karen Temple, Deborah J G Mackay

Journal: Eur. J. Hum. Genet.. 2015 Apr;23(4):494-9.

 

Pseudohypoparathyroidism (PHP) is caused by reduced expression of genes within the GNAS cluster, resulting in parathormone resistance. The cluster contains multiple imprinted transcripts, including the stimulatory G protein α subunit (Gs-α) and NESP55 transcript preferentially expressed ...

Last Updated: 31 Dec 1969

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Pseudohypoparathyroidism type 1b with hypothyroidism.
 

Author(s): Rajesh Joshi, Muznah Kapdi

Journal: Indian Pediatr. 2012 Aug;49(8):667-8.

 

Pseudohypoparathyroidism due to deficient end organ response to parathyroid hormone (PTH) is characterized by hypocalcemia, hyperphosphatemia and increased serum PTH. We report a case of an 8-year-old girl with pseudohypoparathyroidism without features of Albright's hereditary osteodystrophy. ...

Last Updated: 31 Dec 1969

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Development and treatment of tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1B.
 

Author(s): Nicola M Neary, Diala El-Maouche, Rachel Hopkins, Steven K Libutti, Arnold M Moses, Lee S Weinstein

Journal: J. Clin. Endocrinol. Metab.. 2012 Sep;97(9):3025-30.

 

Pseudohypoparathyroidism type 1B (PHP1B) patients have PTH resistance at the renal proximal tubule and develop hypocalcemia and secondary hyperparathyroidism. Hyperparathyroid bone disease also develops in some patients. PHP1B patients are at theoretical risk of developing tertiary ...

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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