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Diseases

Genetic and Rare Diseases Information Center (GARD)

Perrault syndrome


Other Names for this Disease
  • Gonadal dysgenesis, XX type, with deafness
  • Ovarian dysgenesis with sensorineural deafness
  • Gonadal dysgenesis, XX type
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Overview

Perrault syndrome is an inherited condition characterized by sensorineural hearing loss in males and females, and abnormalities of the ovaries in females. Neurological problems may also occur. The condition has several genetic causes. Mutations in the following genes have been found in a small number of affected individuals: C10orf2, CLPP, HARS2, LARS2, or HSD17B4. It is likely that other genes are also involved. Perrault syndrome is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations.[1][2] The condition should be managed by a team of specialists, including an audiologist and otolaryngologist for hearing loss, an endocrinologist for primary amenorrhea, and a reproductive specialist for issues related to infertility.[2]
Last updated: 4/26/2016

References

  1. Perrault syndrome. Genetics Home Reference (GHR). December 2014; https://ghr.nlm.nih.gov/condition/perrault-syndrome.
  2. Newman WG, Friedman TB, Conway GS. Perrault syndrome. GeneReviews. September 25, 2014; https://www.ncbi.nlm.nih.gov/books/NBK242617/.
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Basic Information

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Perrault syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Gonadal dysgenesis, XX type, with deafness
  • Ovarian dysgenesis with sensorineural deafness
  • Gonadal dysgenesis, XX type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.