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Disorder of GNAS inactivation

MONDO:0800466

Any endocrine system disorder in which the cause of the disease is inactivation of the GNAS gene. Phenotypes include pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC).

12 clinical trials for this condition and its sub-types.

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Sub-types

Pseudohypoparathyroidism type 1A (6) Pseudopseudohypoparathyroidism (2) Progressive osseous heteroplasia (0) Pseudohypoparathyroidism type 1B (0) Pseudohypoparathyroidism type 1C (0)

Broader categories

Disease (618) Endocrine system disorder (61) Human disease (14) Disease by body system or component (0)
Trials to join now! 4 Not yet recruiting 1 Not yet finished but already full! 5 Completed 1 Terminated 1
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  • Researchers measure breathing, strength, and quality of life in hospitalized endocrine patients

    Knowledge-focused Completed

    This completed observational study at Uşak University examined 150 adults hospitalized in the endocrinology department. Researchers measured breathing, muscle strength, pain, fatigue, sleep quality, physical activity, balance, and nerve function. The goal was to better understand…

    Sponsor: Uşak University • Aim: Knowledge-focused

    Last updated Jun 27, 2026 12:30 UTC

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