Congenital Plasminogen Deficiency

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Congenital Plasminogen Deficiency is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Summary
Congenital plasminogen deficiency type I is a rare genetic disorder. Individuals lack an enzyme called plasminogen. They develop thick growths, sometimes referred to as lesions, on the mucous membranes of the body. The mucous membranes are a moist layer of tissue that serves as a protective barrier that keeps the inside of the body from drying out. The mucous membrane that lines the inside of the eyelids and the front of the eye (called the conjunctiva) and mucous membrane that lines the inside of the mouth are most often affected. Other mucous membranes can be affected including those lining the nose, the middle ear, the stomach and intestines (gastrointestinal tract), and the respiratory tract. Abnormal growths form on these mucous membranes and without treatment can potentially cause significant complications in certain areas. The growths may resemble a membrane and are sometimes called pseudomembranes. They are described as having a ‘woody' texture. The growths usually recur if they are removed. The overall severity of the disorder can vary greatly from one person to another depending where the growths occur. The disorder is caused by alterations in the PGL gene, which leads to a deficiency in the plasminogen.

Introduction
Two types of the disorder have been described in the medical literature. Congenital plasminogen deficiency type I, also called hypoplasminogenemia, - if transmitted from both parents - is a severe disorder and primarily discussed in this report. Congenital plasminogen deficiency type II, also called dysplasminogenemia, is not believed to be associated with any symptoms.

Supporting Organizations

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/

NIH/National Eye Institute

31 Center Dr
MSC 2510
Bethesda, MD 20892-2510
United States
Tel: (301)496-5248
Fax: (301)402-1065
Email: 2020@nei.nih.gov
Website: http://www.nei.nih.gov/

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.

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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:  6/7/2016
Copyright  2016 National Organization for Rare Disorders, Inc.