disorder of GNAS inactivation
MONDO:0800466Mondo
Findings
No curated finding names disorder of GNAS inactivation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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).
Definition from the Mondo Disease Ontology (MONDO:0800466), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGNC:4392HGNC:4392
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of