pseudohypoparathyroidism type 2
Findings
No curated finding names pseudohypoparathyroidism type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response.
Definition from the Mondo Disease Ontology (MONDO:0008749), read 2026-09-29. CC BY 4.0.
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- PseudohypoparathyroidismHPOHP:0000852
- Obligate (100% of cases)
- Elevated circulating parathyroid hormone levelHPOHP:0003165
- Very frequent (80% to 99% of cases)
- HyperphosphatemiaHPOHP:0002905
- Very frequent (80% to 99% of cases)
- HypocalcemiaHPOHP:0002901
- Very frequent (80% to 99% of cases)
- Hypocalcemic seizuresHPOHP:0002199
- Frequent (30% to 79% of cases)
- Abdominal symptomHPOHP:0011458
- Occasional (5% to 29% of cases)
- Hypocalcemic tetany
Reported absent (4)
- Autoimmune antibody positivityHPOHP:0030057
- CalcinosisHPOHP:0003761
- Ectopic calcificationHPOHP:0010766
- Low urinary cyclic AMP response to PTH administrationHPOHP:0003456
Where it sits
- A kind of