Skip to Content

familial hypoparathyroidism


Definition: inherited isolated hypoparathyroidism characterized by hypocalcemia, hyperphosphatemia, cataracts, intracerebral calcifications, and tetany; all three mendelian forms (sex-linked, autosomal dominant, and recessive) of inheritance are known [MIM*146200, MIM*241400, and MIM*307700]. The autosomal dominant form is caused by mutation in either the parathyroid hormone gene (PTH) on chromosome 11p or the calcium sensing receptor gene (CASR) on 3q.

Disclaimer: This site is designed to offer information for general educational purposes only. The health information furnished on this site and the interactive responses are not intended to be professional advice and are not intended to replace personal consultation with a qualified physician, pharmacist, or other healthcare professional. You must always seek the advice of a professional for questions related to a disease, disease symptoms, and appropriate therapeutic treatments.
© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.