Learn About Autosomal Dominant Hypocalcemia
Autosomal dominant hypocalcemia is characterized by low levels of calcium in the blood (hypocalcemia). Affected individuals can have an imbalance of other molecules in the blood as well, including too much phosphate (hyperphosphatemia) or too little magnesium (hypomagnesemia). Some people with autosomal dominant hypocalcemia also have low levels of a hormone called parathyroid hormone (hypoparathyroidism). This hormone is involved in the regulation of calcium levels in the blood. Abnormal levels of calcium and other molecules in the body can lead to a variety of signs and symptoms, although about half of affected individuals have no associated health problems.
Autosomal dominant hypocalcemia is primarily caused by mutations in the CASR gene; these cases are known as type 1. A small percentage of cases, known as type 2, are caused by mutations in the GNA11 gene. The proteins produced from these genes work together to regulate the amount of calcium in the blood.
The prevalence of autosomal dominant hypocalcemia is unknown. The condition is likely underdiagnosed because it often causes no signs or symptoms.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Healthtexas Provider Network
Ajikumar Aryangat is an Endocrinologist in Dallas, Texas. Dr. Aryangat and is rated as an Experienced provider by MediFind in the treatment of Autosomal Dominant Hypocalcemia. His top areas of expertise are Thyroid Storm, Graves Disease, Thyroid Nodule, and Toxic Nodular Goiter.
University Of Texas Southwestern Medical Center At Dallas
Naim Maalouf is an Endocrinologist in Dallas, Texas. Dr. Maalouf and is rated as an Experienced provider by MediFind in the treatment of Autosomal Dominant Hypocalcemia. His top areas of expertise are Hypercalcemia, Milk-Alkali Syndrome, Osteoporosis, Parathyroidectomy, and Ureteroscopy.
Healthtexas Provider Network
Shumei Meng is an Endocrinologist in Dallas, Texas. Dr. Meng and is rated as an Experienced provider by MediFind in the treatment of Autosomal Dominant Hypocalcemia. Her top areas of expertise are Hypoparathyroidism, Type 2 Diabetes (T2D), Type 1 Diabetes (T1D), Pancreatectomy, and Islet Cell Transplantation.
Summary: The primary purpose of the study is to understand the effectiveness, safety, and tolerability of encaleret when compared to standard of care (SoC) treatment in participants with Autosomal Dominant Hypocalcemia Type 1 (ADH1).
Published Date: February 01, 2015
Published By: National Institutes of Health