Type I Plasminogen Deficiency

A rare autosomal recessive disorder characterized by chronic muscosal pseudomembranous lesions consisting of subepithelial FIBRIN deposition and INFLAMMATION. The most common manifestation is ligneous ('wood-like') conjunctivitis, a redness and subsequent formation of pseudomembranes mostly on the CONJUNCTIVA of the eye that progress to white, yellow-white, or red thick masses with a wood-like consistency and replace the normal mucosa. The lesions may be triggered by local injury and/or infection and often recur after local excision. Lesions of other mucous membranes often occur in the mouth, nasopharynx, trachea, and female genital tract. Some affected children also have congenital occlusive HYDROCEPHALUS. A slightly increased female:male ratio has been observed (1.4:1 to 2:1). Mutations in the PLG gene have been identified. OMIM: 217090

Also Known As:

Plasminogen Deficiency, Type I; Dysplasminogenemia; Ligneous Conjunctivitis

Eye Diseases: 3620
- Conjunctival Diseases: 91
  - Conjunctivitis: 2595
    - Type I Plasminogen Deficiency: 124
Enzymes and Coenzymes: 1
- Enzyme Precursors: 734
  - Plasminogen: 2831
    - Type I Plasminogen Deficiency: 124
Amino Acids, Peptides, and Proteins: 1
- Proteins: 496323
  - Blood Proteins: 12679
    - Serum Globulins: 555
      - Beta-Globulins: 159
        Plasminogen: 2831
        Type I Plasminogen Deficiency: 124
  - Globulins: 3119
    - Serum Globulins: 555
      - Beta-Globulins: 159
        Plasminogen: 2831
        Type I Plasminogen Deficiency: 124
  - Protein Precursors: 37
    - Enzyme Precursors: 734
      - Plasminogen: 2831
        Type I Plasminogen Deficiency: 124
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Genetic Skin Diseases: 51
    - Type I Plasminogen Deficiency: 124
Skin and Connective Tissue Diseases
- Skin Diseases: 13402
  - Genetic Skin Diseases: 51
    - Type I Plasminogen Deficiency: 124

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Disease

Drug/Important Bio-Agent (IBA)