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Type 1 plasminogen deficiency
Other Names for this Disease
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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.Type 1 plasminogen deficiency is a genetic condition associated with chronic lesions in the pseudomembrane (tough, thick material) of the
Last updated: 12/9/2008
- 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.