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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

Why are people with this rare bone disorder prone to diabetes?

Knowledge-focused Terminated

This pilot study aims to understand why people with pseudohypoparathyroidism type 1A (PHP1A) have a higher risk of type 2 diabetes. Researchers will measure insulin sensitivity and beta-cell function in 14 participants with PHP1A or related conditions, comparing them to matched h…

Sponsor: Vanderbilt University Medical Center • Aim: Knowledge-focused

Last updated Jun 27, 2026 12:28 UTC