Learn About Autosomal Dominant Hypocalcemia

What is the definition of 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.

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What are the causes of Autosomal Dominant Hypocalcemia?

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.

How prevalent is Autosomal Dominant Hypocalcemia?

The prevalence of autosomal dominant hypocalcemia is unknown. The condition is likely underdiagnosed because it often causes no signs or symptoms.

Is Autosomal Dominant Hypocalcemia an inherited disorder?

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.

Who are the top Autosomal Dominant Hypocalcemia Local Doctors?
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University Of Pisa

Department Of Clinical And Experimental Medicine 
Pisa, IT 

Claudio Marcocci is in Pisa, Italy. Marcocci is rated as an Elite expert by MediFind in the treatment of Autosomal Dominant Hypocalcemia. He is also highly rated in 26 other conditions, according to our data. His top areas of expertise are Hypercalcemia, Milk-Alkali Syndrome, Autosomal Dominant Hypocalcemia, and Hyperparathyroidism.

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Highly rated in
10
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University Of Oxford

Birmingham, ENG, GB 

Caroline Gorvin is 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 10 other conditions, according to our data. Her top areas of expertise are Autosomal Dominant Hypocalcemia, Idiopathic Hypercalciuria, Milk-Alkali Syndrome, and Hypercalcemia.

 
 
 
 
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Elite
Highly rated in
10
conditions

University Of Oxford

Oxford, ENG, GB OX39D

Fadil Hannan is in Oxford, United Kingdom. Hannan is rated as an Elite expert by MediFind in the treatment of Autosomal Dominant Hypocalcemia. He is also highly rated in 10 other conditions, according to our data. His top areas of expertise are Milk-Alkali Syndrome, Autosomal Dominant Hypocalcemia, Hypercalcemia, and Familial Hypocalciuric Hypercalcemia Type 1.

What are the latest Autosomal Dominant Hypocalcemia Clinical Trials?
Effect of Phototherapy on Serum Level of Calcium in Infants With Hyperbilirubinemia
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CLARIFY: Autosomal Dominant Hypocalcemia Types 1 And 2 (ADH1/2) Disease Monitoring Study (DMS)
Who are the sources who wrote this article ?

Published Date:updated Last, February

Published By: National Institutes of Health

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