Adrenocortical Hypofunction, Chronic Primary Congenital

What is Adrenocortical Hypofunction, Chronic Primary Congenital?

Adrenocortical Hypofunction, Chronic Primary Congenital is a rare disease. It is also known as Addison Disease, Congenital.

* This information is courtesy of the L M D.

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What gene changes cause Adrenocortical Hypofunction, Chronic Primary Congenital?

The syndrome is inherited in the following inheritance pattern/s:

N/A

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

OMIM Number - 103230 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
N/A

What are the main symptoms of Adrenocortical Hypofunction, Chronic Primary Congenital?

The typical symptoms of the syndrome are:
Hypernatriuria, Adrenal insufficiency, Hyperpigmentation of the skin, Autosomal dominant inheritance

How does someone get tested for Adrenocortical Hypofunction, Chronic Primary Congenital?

The initial testing for Adrenocortical Hypofunction, Chronic Primary Congenital can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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