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Familial Isolated Hypoparathyroidism

National Organization for Rare Disorders, Inc.

Important
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.

Synonyms

  • FIH

Disorder Subdivisions

  • CASR-related hypoparathyroidism
  • PTH-related hypoparathyroidism
  • X-linked recessive hypoparathyroidism
  • GCM2-related 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 failure. Familial isolated hypoparathyroidism is caused by mutations to one of several different genes.

Resources

Hypoparathyroidism Association, Inc.
PO Box 2258
Idaho Falls, ID 83403
Tel: (866)213-0394
Fax: (205)524-3857
Tel: (866)213-0394
Email: hpth@hypopara.org. hpth@hypopara.org. hpth@hypopara.org. hpth@hypopara.org
Internet: http://www.hypopara.org

NIH/National Institute of Child Health & Human Development (Preg & Perinat)
Pregnancy and Perinatology Branch
9000 Rockville Pike
Bethesda, MD 20892
Tel: (301)496-5575
Email: BOCKR@mail.nih.gov
Internet: http://www.nichd.nih.gov

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
Tel: (301)496-3583
Email: NDDIC@info.niddk.nih.gov
Internet: http://www2.niddk.nih.gov/

Thyroid Foundation of Canada
263 MCG Building
Labrosse Ave
Pointe-Claire
QC, H9R 1A3
Canada
Fax: 5146309815
Tel: 8002678822
Internet: http://www.thyroid.ca

Endocrine Society
8401 Connecticut Ave
Suite 900
Chevy Chase, MD 20815
USA
Tel: (301)941-0200
Fax: (301)941-0259
Tel: (888)363-6274
Email: societyservices@endo-society.org
Internet: http://www.endo-society.org

American Thyroid Association
6066 Leesburg Pike, Suite 550
Falls Church, VA 22041
USA
Tel: (703)998-8890
Fax: (703)998-8893
Email: thyroid@thyroid.org
Internet: http://www.thyroid.org

Hormone Health Network
8401 Connecticut Avenue
Suite 900
Chevy Chase, MD 20815-5817
Fax: (310)941-0259
Tel: (800)467-6663
Email: hormone@endo-society.org
Internet: http://www.hormone.org/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

APS Type1.org
18 Rolling Hill Drive
Morristown, NJ 07960
Tel: (973)886-9137
Fax: (973)734-4936
Email: htalarico1@optonline.net
Internet: http://www.apstype1.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

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

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  11/22/2011
Copyright  2011 National Organization for Rare Disorders, Inc.

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