MCID: TYP012

Type 1 Plasminogen Deficiency malady

Rare diseases category
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Summaries for Type 1 Plasminogen Deficiency

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NIH Rare Diseases:42 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.   last updated: 12/9/2008

MalaCards based summary: Type 1 Plasminogen Deficiency, also known as hypoplasminogenemia, is related to conjunctivitis and factor v deficiency. Affiliated tissues include eye and trachea.

Aliases & Classifications for Type 1 Plasminogen Deficiency

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Type 1 Plasminogen Deficiency, Aliases & Descriptions:

Name: Type 1 Plasminogen Deficiency 42
 
Hypoplasminogenemia 42 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Related Diseases for Type 1 Plasminogen Deficiency

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Diseases related to Type 1 Plasminogen Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1conjunctivitis10.2
2factor v deficiency10.1
3congenital plasminogen deficiency10.1
4dysplasminogenemia10.1

Symptoms for Type 1 Plasminogen Deficiency

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Drugs & Therapeutics for Type 1 Plasminogen Deficiency

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Drug clinical trials:

Search ClinicalTrials for Type 1 Plasminogen Deficiency

Search NIH Clinical Center for Type 1 Plasminogen Deficiency

Genetic Tests for Type 1 Plasminogen Deficiency

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Anatomical Context for Type 1 Plasminogen Deficiency

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MalaCards organs/tissues related to Type 1 Plasminogen Deficiency:

32
Eye, Trachea

Animal Models for Type 1 Plasminogen Deficiency or affiliated genes

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Publications for Type 1 Plasminogen Deficiency

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Variations for Type 1 Plasminogen Deficiency

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Expression for genes affiliated with Type 1 Plasminogen Deficiency

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Search GEO for disease gene expression data for Type 1 Plasminogen Deficiency.

Pathways for genes affiliated with Type 1 Plasminogen Deficiency

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Compounds for genes affiliated with Type 1 Plasminogen Deficiency

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GO Terms for genes affiliated with Type 1 Plasminogen Deficiency

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Products for genes affiliated with Type 1 Plasminogen Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for Type 1 Plasminogen Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet