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Protocol Number:
93-DK-0127
- Title:
Family Studies in Metabolic Diseases and Mineral Metabolism
- Number:
93-DK-0127
- Summary:
Diseases of mineral metabolism such as familial multiple endocrine neoplasia type 1 (FMEN1), familial hypocaliuric hypercalcemia (FHH), familial hyperparathyroidism (FH), and pseudohypoparathyroidism (PHP) are known as hereditary abnormalities. Meaning these conditions are passed from parents to their children through genes. These specific conditions result in abnormal levels of calcium in the blood.
This study was designed to help researchers understand more about the genes that are responsible for these disorders. By learning more about the genetic process involved in hereditary abnormalities, new tests and treatments can be developed.
Subjects for this study will be members of families that have had relatives diagnosed with a disease of mineral metabolism. Participants will be asked to give blood samples for DNA extraction. DNA is the part of cells that carries genetic information.
The DNA will be analyzed and the results given to the subjects. Genetic counseling will be provided to subjects to aid in interpreting their results.
- Sponsoring Institute:
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National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- Recruitment Detail
- Type:
Participants currently recruited/enrolled
- Gender:
Male & Female
- Referral Letter Required:
No
- Population Exclusion(s):
None
- Eligibility Criteria:
INCLUSION CRITERIA
Patients with known or suspected disorders of mineral metabolism such as MEN 1, MEN 1-like states, FHH, HPT-JT, FH, FIC, PHP and their first degree relatives (parents, siblings and offspring) and spouses. For the most part only one index case in a family will be tested.
Pre-test counseling by an NIDDK investigator.
- Special Instructions:
Currently Not Provided
- Keywords:
-
Hypercalcemia
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Multiple Endocrine Neoplasia (MEN)
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Familial Hypocalciuric Hypercalcemia
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Hyperparathyroidism
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Linkage Analysis
- Recruitment Keyword(s):
-
None
- Condition(s):
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Hypercalcemia
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Hyperparathyroidism
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Multiple Endocrine Neoplasia
- Investigational Drug(s):
- None
- Investigational Device(s):
- None
- Intervention(s):
- None
- Supporting Site:
- National Institute of Diabetes and Digestive and Kidney Diseases
- Contact(s):
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Patient Recruitment and Public Liaison Office
Building 61 10 Cloister Court Bethesda, Maryland 20892-4754 Toll Free: 1-800-411-1222 TTY: 301-594-9774 (local),1-866-411-1010 (toll free) Fax: 301-480-9793 Electronic Mail:prpl@mail.cc.nih.gov
- Citation(s):
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Receptor-effector coupling by G proteins; implications for normal and abnormal signal transduction
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Marx SJ, Attie MF, Levine MA, Spiegel AM, Downs RW Jr, Lasker RD. The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds. Medicine (Baltimore). 1981 Nov;60(6):397-412. No abstract available.
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Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Crabtree JS, Wang Y, Roe BA, Weisemann J, Boguski MS, Agarwal SK, Kester MB, Kim YS, Heppner C, Dong Q, Spiegel AM, Burns AL, Marx SJ. Position alcloning of the gene for multiple endocrineneoplasia-type 1. Science. 1997 Apr 18;276(5311):404-7.
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Bethesda, Maryland 20892. Last update: 01/13/2009
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