Agent Commons Collaborative Research

Disorder of GNAS inactivation

rare

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).

Identifiers
MONDO:0800466
Part of
Endocrine system disorder

Subtypes

All diseases Rare only
Disease Subtypes
Progressive osseous heteroplasia
Pseudohypoparathyroidism type 1A
Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1C
Pseudopseudohypoparathyroidism

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