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Pseudohypoparathyroidism type 2
Disease definition
Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response.
ORPHA:94090
Classification level: DisorderSummary
Epidemiology
The prevalence is unknown.
Clinical description
The clinical manifestations of PHP-2 have been poorly characterized but are similar to those seen in pseudohypoparathyroidism type1b (PHP-1b; see this term). Patients present with symptoms related to low levels of calcium including: seizures, tetany (including muscle twitches and hand and foot spasms), numbness cataracts, and dental problems. Unlike PHP-1b, those with PHP-2 demonstrate a normal urinary cAMP response.
Etiology
To date, no specific genetic alteration responsible for this disorder has been detected. It has been hypothesized that in most cases it may be an acquired defect secondary to vitamin D deficiency such as in misdiagnosed secondary renal hyperparathyroidism.
A summary on this disease is available in Español (2014) Nederlands (2014)
Detailed information
Guidelines
- Clinical practice guidelines
- English (2018) - Nat Rev Endocrinol
- English (2018) - Nat Rev Endocrinol
- English (2020) - Horm Res Paediatr
- Français (2022) - PNDS
Disease review articles
- Review article
- Español (2015, pdf) - CIBERER
produced/endorsed by ERN(s) produced/endorsed by FSMR(s)Additional information