familial hypoparathyroidism

fa·mil·i·al hy·po·par·a·thy·roid·ism

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.

fa·mil·i·al hy·po·par·a·thy·roid·ism

(fă-milē-ăl hīpō-pară-thīroyd-izm)

Inherited isolated hypoparathyroidism characterized by hypocalcemia, hyperphosphatemia, cataracts, intracerebral calcifications, and tetany.

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