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....

Population

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.

Brief Title

Studies of Inherited Diseases of Metabolism

Official Title

Family Studies in Metabolic Diseases and Mineral Metabolism

Brief Summary

Diseases of mineral metabolism such as familial multiple endocrine neoplasia type 1 (FMEN1), <br /> familial hypocaliuric hypercalcemia (FHH), familial hyperparathyroidism (FH), and <br /> pseudohypoparathyroidism (PHP) are known as hereditary abnormalities. Meaning these <br /> conditions are passed from parents to their children through genes. These specific conditions <br /> result in abnormal levels of calcium in the blood. <br /> <br /> This study was designed to help researchers understand more about the genes that are <br /> responsible for these disorders. By learning more about the genetic process involved in <br /> hereditary abnormalities, new tests and treatments can be developed. <br /> <br /> Subjects for this study will be members of families that have had relatives diagnosed with a <br /> disease of mineral metabolism. Participants will be asked to give blood samples for DNA <br /> extraction. DNA is the part of cells that carries genetic information. <br /> <br /> The DNA will be analyzed and the results given to the subjects. Genetic counseling will be <br /> provided to subjects to aid in interpreting their results....

Detailed Description

Familial multiple endocrine neoplasia type 1 (MEN1), familial hypocalciuric (or familial
benign) hypercalcemia (FHH), hyperparathyroidism - jaw tumor syndrome (HPT-JT), other causes
of familial isolated hyperparathyroidism (FIHP), and pseudohypoparathyroidism (PHP) are
disorders of metabolism that are generally inherited in an autosomal dominant fashion. MEN1
is characterized by overgrowth and hyperfunction of the parathyroids, anterior pituitary and
gastrointestinal endocrine tissue. MEN1, p15, p18, p21, and p27 are identified genes for
MEN1- like states. FHH is characterized by a usually benign syndrome sometimes mistaken for
typical primary hyperparathyroidism, which may result in unnecessary and unsuccessful
parathyroid surgery. The CASR gene for the calcium-sensing receptor of the parathyroid cell
is mutated in most FHH kindreds; a minority of kindreds with FHH have mutation of the GNA11
or AP2S1 gene. HPT-JT is a distinctive subtype of familial isolated hyperparathyroidism that
has combinations of parathyroid adenoma, parathyroid cancer, jaw tumor, uterus tumor, kidney
tumor and kidney cysts. It is caused by mutation of the CDC73/HRPT2 gene. PHP is
characterized by parathyroid hormone resistance, and one form is associated with mutations in
the gene encoding the alpha subunit of the stimulatory G protein. We are continuing to
collect blood and tissue samples from affected and unaffected members of kindreds with known
or suspected MEN1, FHH, HPT-JT, FIHP, PHP, and related disorders for the purpose of
geneticanalysis and gene identification. In most cases, the procurement of specimens under
this protocol will be at an off-site location. Samples will be processed for extraction of
DNA and RNA.

Outcome Measures

Outcome measures are the tests that investigators perform to prove whether or not a treatment being tested in a clinical trial is having any effect.