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Genetic and Rare Diseases Information Center (GARD)

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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 chronic lesions in the pseudomembrane (tough, thick material) of the mucosa of the eye, mouth, nasopharynx, trachea, and female genital tract; decreased serum plasminogen activity; and decreased plasminogen antigen level. The lesions may be triggered by local injury and/or infection and often recur after removal of the lesion; they are caused by the deposition of fibrin (a protein involved in blood clotting) and by inflammation. The most common clinical finding is ligenous ('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. Hydrocephalus may be present at birth in a small number of individuals.[1]  
Last updated: 12/9/2008

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;
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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 Online Mendelian Inheritance in Man (OMIM) is an 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.