pseudohypoparathyroidism
Findings
No curated finding names pseudohypoparathyroidism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP).
Definition from the Mondo Disease Ontology (MONDO:0019992), 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
- Definitive · G2P · Autosomal dominant · 2025