Familial Isolated Hypoparathyroidism
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Familial Isolated Hypoparathyroidism is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- CASR-related hypoparathyroidism
- PTH-related hypoparathyroidism
- X-linked recessive hypoparathyroidism
- GCM2-related hypoparathyroidism
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 failure. Familial isolated hypoparathyroidism is caused by mutations to one of several different genes.
Hypoparathyroidism Association, Inc.
PO Box 2258
Idaho Falls, ID 83403
NIH/National Institute of Child Health & Human Development (Preg & Perinat)
Pregnancy and Perinatology Branch
9000 Rockville Pike
Bethesda, MD 20892
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Office of Communications & Public Liaison
Bldg 31, Rm 9A06
31 Center Drive, MSC 2560
Bethesda, MD 20892-2560
Thyroid Foundation of Canada
263 MCG Building
QC, Intl H9R 1A3
8401 Connecticut Ave
Chevy Chase, MD 20815
American Thyroid Association
6066 Leesburg Pike, Suite 550
Falls Church, VA 22041
8401 Connecticut Avenue
Chevy Chase, MD 20815-5817
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
18 Rolling Hill Drive
Morristown, NJ 07960
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The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
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Last Updated: 11/22/2011
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