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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).

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

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Sub-types

Pseudohypoparathyroidism type 1A (7) Pseudopseudohypoparathyroidism (2) Progressive osseous heteroplasia (0) Pseudohypoparathyroidism type 1B (0) Pseudohypoparathyroidism type 1C (0)

Broader categories

Disease (717) Endocrine system disorder (78) Human disease (15) Disease by body system or component (0)
Trials to join now! 1 Not yet finished but already full! 5 Terminated 1
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    Disease control Recruiting now

    This study tests whether injecting sodium thiosulfate directly into abnormal calcium deposits can shrink them and reduce pain. It includes people with three rare conditions: systemic sclerosis, dermatomyositis, and a genetic disorder called iPPSD2. Participants receive up to 11 i…

    Phase 2 • Sponsor: University Hospital, Limoges • Aim: Disease control

    Last updated Jul 22, 2026 00:00 UTC

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