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Pseudohypoparathyroidism type 2

ORPHA94090
Synonym(s) -
Prevalence Unknown
Inheritance Not applicable
Age of onset All ages
ICD-10
  • E20.1
OMIM
UMLS
  • C0271870
  • C2932717
MeSH
  • C548077
MedDRA -

Summary

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.

The prevalence is unknown.

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.

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.

Expert reviewer(s)

  • Dr Giovanna MANTOVANI

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