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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

Single-Patient trial aims to tackle obesity in rare bone disorder

Disease control Not yet recruiting

This phase 2 trial tests the drug setmelanotide in one person with pseudohypoparathyroidism type 1a (PHP1a), a rare genetic disorder that often causes severe obesity. The participant will receive daily injections of setmelanotide for six months to see if it leads to weight loss a…

Phase: PHASE2 • Sponsor: Massachusetts General Hospital • Aim: Disease control

Last updated Jun 27, 2026 12:02 UTC