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Diseases

Genetic and Rare Diseases Information Center (GARD)

Griscelli syndrome type 2


Other Names for this Disease
  • GS2
  • Griscelli syndrome with hemophagocytic syndrome
  • Partial albinism and immunodeficiency syndrome
  • PAID syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Griscelli syndrome type 2 is a rare, inherited condition that primarily affects the skin and hair. Signs and symptoms generally develop during infancy and may include hypopigmented (unusually light) skin and light, silver-colored hair. Affected people may also have abnormalities of the immune system which puts them at risk for frequent infections and hemophagocytic lymphohistiocytosis.[1][2] Griscelli syndrome type 2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal dominant manner.[1] In some cases, Griscelli syndrome type 2 has been treated successfully with stem cell transplantation.[3][2]
Last updated: 12/21/2015

References

  1. Griscelli syndrome. Genetics Home Reference. September 2013; http://ghr.nlm.nih.gov/condition/griscelli-syndrome.
  2. Griscelli syndrome. DermNet NZ. January 2015; http://www.dermnetnz.org/colour/griscelli.html.
  3. Noah S Scheinfeld, JD, MD, FAAD. Griscelli Syndrome. Medscape Reference. January 2015; http://emedicine.medscape.com/article/1069442-overview.
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Basic Information

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on Griscelli syndrome type 2. This website is maintained by the National Library of Medicine.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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 Griscelli syndrome type 2. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • GS2
  • Griscelli syndrome with hemophagocytic syndrome
  • Partial albinism and immunodeficiency syndrome
  • PAID syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.