National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Proteus syndrome is not the name you expected.
Proteus syndrome is a rare disorder characterized by overgrowth of various tissues of the body. The cause of the disorder is a mosaic mutation in a gene called AKT1. Disproportionate, asymmetric overgrowth occurs in a mosaic pattern (i.e., a random "patchy" pattern of affected and unaffected areas). Affected individuals may experience a wide variety of complications that may include progressive skeletal malformations, benign and malignant tumors, malformations of blood vessels (vascular malformations), bullous pulmonary disease, and certain skin lesions. In some people, life-threatening conditions relating to abnormal blood clotting may develop including deep vein thrombosis and pulmonary embolism.
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
- Website: http://rarediseases.info.nih.gov/GARD/
- 4581 Magnolia Dr.
- Suffolk, VA 23435
- Tel: (757)615-3686
- Email: email@example.com
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
- Email: NIAMSinfo@mail.nih.gov
- Website: http://www.niams.nih.gov/
PTEN Hamartoma Tumor Syndrome Foundation
- Tel: 256-520-8529
- Email: firstname.lastname@example.org
- Website: http://www.ptenfoundation.org
Proteus Syndrome Foundation
- 4915 Dry Stone Drive
- Colorado Springs, CO 80923
- Tel: (901)756-9375
- Email: email@example.com
- Website: http://www.proteus-syndrome.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org 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.
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.
Last Updated: 4/27/2015
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