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Familial Isolated Hypoparathyroidism

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Karen K. Winer, MD, National Institutes of Health, National Institute of Child Health and Human Development, NIH, /Pediatric Growth and Nutrition Branch, for assistance in the preparation of this report.

Synonyms of Familial Isolated Hypoparathyroidism

  • FIH

Disorder Subdivisions

  • CASR-related hypoparathyroidism
  • GCM2-related hypoparathyroidism
  • PTH-related hypoparathyroidism
  • X-linked recessive hypoparathyroidism

General Discussion

Familial isolated hypoparathyroidism is a group of extremely rare genetic disorders characterized by parathyroid glands that do not produce or secrete enough parathyroid hormone to maintain normal mineral balance. The parathyroid glands are part of the endocrine system, the network of glands that regulate the chemical processes within the body. Parathyroid hormone plays a vital role in regulating the levels of calcium and phosphorus in the blood. Parathyroid hormone deficiency causes low levels of calcium in the blood (hypocalcemia) and high levels of phosphorous.

The most common cause of hypoparathyroidism is damage to or removal of the parathyroid glands due to neck surgery. Hypoparathyroidism can also be caused by autoimmunity and can occur in association with a number of different underlying disorders such as autoimmune polyglandular syndrome type 1 (APS-1). Familial isolated hypoparathyroidism is caused by mutations to one of several different genes.

Organizations related to Familial Isolated Hypoparathyroidism

Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

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