Plasminogen Deficiency, Type I malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Bone diseases
Aliases & Descriptions for Plasminogen Deficiency, Type I:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Bone diseases
OMIM:50 Congenital plasminogen deficiency is a rare autosomal recessive disorder characterized clinically by chronic muscosal... (217090) more...
MalaCards based summary: Plasminogen Deficiency, Type I, also known as hypoplasminogenemia, is related to ligneous conjunctivitis and congenital plasminogen deficiency, and has symptoms including abnormality of the eye, abnormality of the oral cavity and polycystic ovaries. An important gene associated with Plasminogen Deficiency, Type I is PLG (Plasminogen). Affiliated tissues include eye, trachea and ovary.
NIH Rare Diseases:46 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. type 1 plasminogen deficiency is caused by mutations in the plg gene. it is inherited in an autosomal recessive pattern. management depends upon the sites involved, but mainly focuses on managing the ligneous conjunctivitis. last updated: 6/13/2016
UniProtKB/Swiss-Prot:68 Plasminogen deficiency: A disorder characterized by decreased serum plasminogen activity. Two forms of the disorder are distinguished: type 1 deficiency is additionally characterized by decreased plasminogen antigen levels and clinical symptoms, whereas type 2 deficiency, also known as dysplasminogenemia, is characterized by normal, or slightly reduced antigen levels, and absence of clinical manifestations. Plasminogen deficiency type 1 results in markedly impaired extracellular fibrinolysis and chronic mucosal pseudomembranous lesions due to subepithelial fibrin deposition and inflammation. The most common clinical manifestation of type 1 deficiency is ligneous conjunctivitis in which pseudomembranes formation on the palpebral surfaces of the eye progresses to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa.
Diseases related to Plasminogen Deficiency, Type I via text searches within MalaCards or GeneCards Suite gene sharing:(show all 12)
Graphical network of diseases related to Plasminogen Deficiency, Type I:
Symptoms by clinical synopsis from OMIM:217090
Clinical features from OMIM:217090
Symptoms:52 (show all 41)
HPO human phenotypes related to Plasminogen Deficiency, Type I:(show all 27)
Drugs for Plasminogen Deficiency, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Plasminogen Deficiency, Type I
MalaCards organs/tissues related to Plasminogen Deficiency, Type I:34
Eye, Trachea, Ovary, Skin, Bone
Articles related to Plasminogen Deficiency, Type I:
UniProtKB/Swiss-Prot genetic disease variations for Plasminogen Deficiency, Type I:68
Clinvar genetic disease variations for Plasminogen Deficiency, Type I:5
Search GEO for disease gene expression data for Plasminogen Deficiency, Type I.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet