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.
Fadil Hannan practices in Liverpool, United Kingdom. Hannan is rated as an Elite expert by MediFind in the treatment of Autosomal Dominant Hypocalcemia. He is also highly rated in 13 other conditions, according to our data. His top areas of expertise are Milk-Alkali Syndrome, Hypercalcemia, Autosomal Dominant Hypocalcemia, and Familial Hypocalciuric Hypercalcemia Type 1.
Rajesh Thakker practices in Oxford, United Kingdom. Thakker is rated as an Elite expert by MediFind in the treatment of Autosomal Dominant Hypocalcemia. He is also highly rated in 43 other conditions, according to our data. His top areas of expertise are Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia, Autosomal Dominant Hypocalcemia, and Milk-Alkali Syndrome.
Caroline Gorvin practices in Birmingham, United Kingdom. Gorvin is rated as an Elite expert by MediFind in the treatment of Autosomal Dominant Hypocalcemia. She is also highly rated in 12 other conditions, according to our data. Her top areas of expertise are Autosomal Dominant Hypocalcemia, Milk-Alkali Syndrome, Hypercalcemia, and Familial Hypocalciuric Hypercalcemia Type 1.
Summary: A global, multi-center, non-interventional Disease Monitoring Study (DMS) in participants with Autosomal Dominant Hypocalcemia Type 1 (ADH1) or Autosomal Dominant Hypocalcemia Type 2 (ADH2) designed to characterize ADH1 and ADH2 disease presentation and progression through retrospective (past) and longitudinal prospective (over time into the future) data collection.
Summary: A global, multi-center, Phase 3, Randomized, Open-Label Study Evaluating the Efficacy and Safety of Encaleret Compared to Standard of Care in Participants with Autosomal Dominant Hypocalcemia Type 1 (ADH1)
Published Date: February 01, 2015Published By: National Institutes of Health