Catalog

Autosomal dominant hypocalcaemia

No MMS code

Link to WHO Definition

Autosomal dominant hypocalcaemia – http://id.who.int/icd/entity/1594772438

Autosomal dominant hypocalcaemia (AD hypocalcaemia) is a disorder of calcium homeostasis characterised by variable degrees of hypocalcaemia with abnormally low levels of parathyroid hormone (PTH) and hypercalciuria due to activating mutations of the gene encoding the calcium-sensing receptor (CaSR).