Disease-gene associations mined from literature

Human genes for hyperparathyroidism

Hyperparathyroidism [DOID:13543]

Hyperparathyroidism is overactivity of the parathyroid glands resulting in excess production of parathyroid hormone (PTH). The parathyroid hormone regulates calcium and phosphate levels and helps to maintain these levels. Excessive PTH secretion may be due to problems in the glands themselves, in which case it is referred to as primary hyperparathyroidism and which leads to hypercalcemia (raised calcium levels). It may also occur in response to low calcium levels, as encountered in various situations such as vitamin D deficiency or chronic kidney disease; this is referred to as secondary hyperparathyroidism. In all cases, the raised PTH levels are harmful to bone, and treatment is often needed. Recent evidence suggests that Vitamin D deficiency/insufficiency plays a role in the development of hyperparathyroidism. Lithium is associated with an increased incidence of hyperparathyroidism.

Synonyms:  hyperparathyroidism,  DOID:13543

Linkouts:  OMIM #1 #2