Familial Isolated Hypoparathyroidism

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Familial Isolated Hypoparathyroidism is not the name you expected.

Disorder Subdivisions

  • None

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.

Supporting Organizations

APS Type 1 Foundation

18 Rolling Hill Drive
Morristown, NJ 07960
Tel: (973)886-9137
Fax: (973)734-4936
Email: Todd@aps1.org
Website: http://www.apstype1.org

Endocrine Society

2055 L Street NW
Suite 600
Washington, DC 20036
Tel: (202)971-3636
Fax: (202)736-9705
Tel: (888)363-6274
Email: societyservices@endrocrine.org
Website: http://www.endocrine.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
Website: http://rarediseases.info.nih.gov/GARD/

Hormone Health Network Endocrine Society

2055 L Street NW
Suite 600
Washington, DC 20036
Tel: (202)971-3636
Fax: (202)736-9705
Tel: (888)363-6274
Email: hormone@endocrine.org
Website: http://www.hormone.org/

Hypoparathyroidism Association, Inc.

PO Box 2258
Idaho Falls, ID 83403
Tel: (208)524-3857
Fax: (205)524-3857
Tel: (866)213-0394
Email: jsanders@hypopara.org
Website: http://www.hypopara.org

NIH/National Institute of Diabetes, Digestive & Kidney Diseases

Office of Communications & Public Liaison
Bldg 31, Rm 9A06
Bethesda, MD 20892-2560
Tel: (301)496-3583
Email: NDDIC@info.niddk.nih.gov
Website: http://www2.niddk.nih.gov/

Thyroid Foundation of Canada

P.O. Box 298
Bath ON K0H 1G0,
Fax: 5146309815
Tel: 8002678822
Website: http://www.thyroid.ca

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.

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.

Last Updated:  4/1/2014
Copyright  2014 National Organization for Rare Disorders, Inc.