Type 1 plasminogen deficiency
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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]
References
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Ginsburg D. Emery and Rimoin's Principles and Practice of Medical Genetics, 5th ed. In: . Hemophilia and Other Disorders of Hemostasis. Philadelphia:Elsevier Ltd; 2007:
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- More Detailed Information (Found: 3 Resources)
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Type 1 plasminogen deficiency. Click on the link to go to OMIM and review these resources.
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Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
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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.
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Orphanet lists international laboratories offering diagnostic testing for this condition. Click here and scroll down the page to learn more about the processes of certification, accreditation, and external quality assessment available to these labs. Click on Orphanet to view the list.
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