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Children's Health

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WAS Related Disorders

It is possible that the main title of the report WAS Related Disorders is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


Disorder Subdivisions

  • None

General Discussion

The WAS-related disorders are a spectrum of conditions affecting the immune system that are caused by mutations in the WAS gene. These disorders include Wiskott-Aldrich syndrome, X-linked thrombocytopenia and X-linked congenital neutropenia. The WAS gene abnormality results in a deficiency in the WASP protein that leads to a low platelet count (thrombocytopenia). WAS-related disorders usually present in infancy and are characterized by bloody diarrhea, recurrent infections, scaling, itchy, skin rashes (eczema), and the appearance of small purple spots on the skin (petechia). The development of Pneumocystis carinii pneumonia (PCP) and intracranial bleeding are possible early, life-threatening complications. Later potential complications include destruction of red blood cells (hemolytic anemia), arthritis, vasculitis and kidney and liver damage. Affected individuals have an increased risk of developing lymphomas, especially after exposure to Epstein-Barr virus. WAS-related disorders are extremely variable, even in individuals in the same family.


March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637

Immune Deficiency Foundation
40 W. Chesapeake Avenue
Suite 308
Towson, MD 21204
Tel: (410)321-6647
Fax: (410)321-9165
Tel: (800)296-4433

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
Information Clearinghouse
One AMS Circle
Bethesda, MD 20892-3675
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
TDD: (301)565-2966

NIH/National Heart, Lung and Blood Institute
P.O. Box 30105
Bethesda, MD 20892-0105
Tel: (301)592-8573
Fax: (301)251-1223

NIH/National Institute of Allergy and Infectious Diseases
Office of Communications and Government Relations
6610 Rockledge Drive, MSC 6612
Bethesda, MD 20892-6612
Tel: (301)496-5717
Fax: (301)402-3573
Tel: (866)284-4107
TDD: (800)877-8339

Center for International Blood and Marrow Transplant Research
Froedtert and the Medical College of Wisconsin Clinical Cancer Center
9200 W. Wisconsin Avenue
Milwaukee, WI 53226
Tel: (414)805-0700
Fax: (414)805-0714

American Academy of Allergy, Asthma and Immunology
611 East Wells Street
Milwaukee, WI 53202
Tel: (414)272-6071
Fax: (414)276-3349
Tel: (800)822-2762

National Bone Marrow Transplant Link
20411 W. 12 Mile Rd
Suite 108
Southfield, MI 48076
Tel: (248)358-1886
Fax: (248)358-1889
Tel: (800)546-5268

International Patient Organization for Primary Immunodeficiencies
Firside Main Road
Cornwall, PL11 3LE
United Kingdom
Tel: 441503250668
Fax: 441503250961

Jeffrey Modell Foundation
780 Third Avenue
New York, NY 10017
Tel: (212)819-0200
Fax: (212)764-4180
Tel: (866)469-6474

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223

European Society for Immunodeficiencies
1-3 rue de Chantepoulet
Geneva, CH 1211
Tel: 410229080484
Fax: 41229069140

For a Complete Report:

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site or email

Last Updated: 2/15/2008
Copyright 1986, 1987, 1988, 1993, 1996, 1997, 1998, 1999, 2006, 2007, 2008 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization for Rare Disorders

Last Updated: May 28, 2015
This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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