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The University of Southampton
Wessex Imprinting GroupInformation for patients

Pseudo Pseudohypoparathyroidism (PPHP)

Albrights hereditary osteodystrophy / Pseudo Pseudohypoparathyroidism (PPHP), Pseudohypoparathyroidism types 1a and 1b (PHP1a and PHP1b)

These are a group of disorders causing a problem with calcium metabolism. Only PPHP type 1b is truly an imprinting disorder. It is characterised by:

This sometimes causes hypocalcaemia (low blood calcium) and high blood phosphate. This can cause low energy, muscle cramps, twitches and thinning of the bones. However this is not always the case and is very variable.

Genetic Causes

Variable methylation defects on chromosome 20. Sometimes this is associated with a small deletion on chromosome 20 and this type can be inherited through the generations.


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