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Diseases

Genetic and Rare Diseases Information Center (GARD)

Type 1 plasminogen deficiency


Other Names for this Disease
  • Hypoplasminogenemia
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Overview

Type 1 plasminogen deficiency is a genetic condition associated with inflammed growths on the mucous membranes, the moist tissues that line body openings such as the eye, mouth, nasopharynx, trachea, and female genital tract. The growths may be triggered by local injury and/or infection and often recur after removal. The growths are caused by the deposition of fibrin (a protein involved in blood clotting) and by inflammation. The most common clinical finding is ligneous ('wood-like') conjunctivitis, a condition marked by redness and subsequent formation of pseudomembranes of part of the eye that progresses to white, yellow-white or red thick masses with a wood-like consistency that replace the normal mucosa. This can lead to vision loss. Growths in other areas can also lead to medical problems; those that occur in the gastrointestinal tract can cause ulcers, and growth in the windpipe can lead to breathing problems. Hydrocephalus may be present at birth in a small number of individuals.[1][2] Type 1 plasminogen deficiency is caused by mutations in the PLG gene. It is inherited in an autosomal recessive pattern.[2] Management depends upon the sites involved, but mainly focuses on managing the ligneous conjunctivitis.[3]
Last updated: 6/13/2016

References

  1. Ginsburg D. Hemophilia and Other Disorders of Hemostasis. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR. Emery and Rimoin's Principles and Practice of Medical Genetics, 5th ed. Philadelphia: Elsevier Ltd; 2007;
  2. Congenital plaminogen deficiency. Genetics Home Reference (GHR). August 2012; https://ghr.nlm.nih.gov/condition/congenital-plasminogen-deficiency.
  3. Schuster V. Hypoplasminogenemia. Orphanet. May 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=722.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Type 1 plasminogen deficiency. This website is maintained by the National Library of Medicine.

In Depth Information

  • 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 Type 1 plasminogen deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Hypoplasminogenemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.