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Metabolic disorder - ClinicalTrials.gov

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Last Updated: 23 June 2022

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Family Studies in Metabolic Diseases and Mineral Metabolism

Multiple endocrine neoplasia type 1, familial hypocalcemia, hyperparathyroidism, jaw tumor syndrome, other signs of familial isolated hyperparathyroidism, and pseudohypophoreopathy are metabolic disorders that are generally passed on in an autosomal dominant fashion. In most FHH kindreds, the calcium-sensing receptor of the parathyroid cell is mutated; a minority of FHH kindreds have mutations of the GNA11 or AP2S1 gene. HPT-JT is a distinct subtype of familial isolated hyperparathyroidism with elements of parathyroid thyroid disease, parathyroid cancer, jaw bone tumor, uterus cyst, kidney tumor, and kidney cysts. Parathyroid hormone resistance is characterized by parathyroid hormone resistance, and one form is associated with mutations in the gene coding the alpha subunit of the stimulatory G protein's alpha subunit.

Source link: https://clinicaltrials.gov/ct2/show/NCT00001345

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions