Disease-gene associations mined from literature

Human genes for hypoparathyroidism

Hypoparathyroidism [DOID:11199]

Hypoparathyroidism is decreased function of the parathyroid glands with under production of parathyroid hormone. This can lead to low levels of calcium in the blood, often causing cramping and twitching of muscles or tetany (involuntary muscle contraction), and several other symptoms. The condition can be inherited, but it is also encountered after thyroid or parathyroid gland surgery, and it can be caused by immune system-related damage as well as a number of rarer causes. The diagnosis is made with blood tests, and other investigations such as genetic testing depending on the results. The treatment of hypoparathyroidism is limited by the fact that there is no artificial form of the hormone that can be administered as replacement; calcium replacement or vitamin D can ameliorate the symptoms but can increase the risk of kidney stones and chronic kidney disease.

Synonyms:  hypoparathyroidism,  DOID:11199,  Hypoparathyroidism (disorder),  Hypoparathyroidism NOS (disorder),  Hypoparathyroidism disorder ...

Linkouts:  OMIM #1 #2 #3