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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hailey-Hailey disease


Other Names for this Disease
  • Benign familial pemphigus
  • Benign chronic pemphigus
  • Familial benign pemphigus
  • BCPM
  • Benign chronic familial pemphigus of Hailey-Hailey
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

Can prenatal genetic screening be done for the ATP2C1 responsible for Hailey-Hailey disease? If so, how who you advise a couple to move forward if they were wanting to conceive a child free of this genetic disorder? The mother is the gene carrier.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Is prenatal testing available for Hailey Hailey disease?

Yes. Prenatal testing is available to assess for mutations in the APT2C1 gene, the gene implicated in Hailey-Hailey disease.[1]

In most cases, the gene mutation must first be identified in an affected parent before genetic testing can be performed on a fetus. Genetic Testing Registry (GTR) lists the names of laboratories that are performing genetic testing for Hailey-Hailey disease. To view the contact information for the clinical laboratories conducting testing, click here

Please note:  Most of the laboratories listed through GTR do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.  Below, we provide a list of online resources that can assist you in locating a genetics professional near you.
Last updated: 12/30/2015

What prenatal testing options are available for Hailey-Hailey disease?

Today there are a number of genetic tests that can be used to inform a couple about the possible outcomes of a current or future pregnancy. Examples of two such tests are prenatal diagnosis and preimplantation genetic diagnosis (PGD). Prenatal diagnosis can be used to diagnose a condition in a developing fetus. Today, doctors are able to diagnose many more birth defects than they are able to treat before birth. If a fetus has a condition for which prenatal treatment is not possible, prenatal diagnosis may help parents prepare emotionally for the birth and to plan the delivery with their health care providers. Parents can also use this information to make decisions regarding whether or not to continue the pregnancy.

PGD represents an alternative to prenatal diagnosis. It is used following in vitro fertilization to diagnose a genetic disease or condition in embryos. Only embryos that do not carry the disease-causing mutation are implanted in the mother's womb. PGD allows testing to occur before a pregnancy begins.

In many cases, the disease-causing mutation must be identified in an affected relative before PGD or prenatal diagnosis can be performed.[2][3]

You can learn more about these and other tests by visiting the links below to the view information on this topic developed by the March of Dimes and Genes in Life: 
http://www.marchofdimes.org/pregnancy/prenatal-tests.aspx#
http://genesinlife.org/testing-services/testing-genetic-conditions/tests-related-pregnancy

Couples considering these options should talk with their healthcare provider and a genetic professional. It is important that couples are fully informed of the risks and benefits of each testing option and also have an opportunity to explore their feelings and beliefs regarding the use of these technologies.
Last updated: 12/30/2015

References
Other Names for this Disease
  • Benign familial pemphigus
  • Benign chronic pemphigus
  • Familial benign pemphigus
  • BCPM
  • Benign chronic familial pemphigus of Hailey-Hailey
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.