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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
  • Griscelli disease type 2
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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.
  • 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
  • Griscelli disease type 2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.