MCID: CNG171
MIFTS: 13

Congenital Plasminogen Deficiency malady

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Summaries for Congenital Plasminogen Deficiency

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21Genetics Home Reference, 33MalaCards
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Genetics Home Reference:21 Congenital plasminogen deficiency is a disorder that results in inflamed growths on the mucous membranes, which are the moist tissues that line body openings such as the eyelids and the inside of the mouth. Development of the growths are usually triggered by infections or injury, but they may also occur spontaneously in the absence of known triggers. The growths may recur after being removed.

MalaCards: Congenital Plasminogen Deficiency, also known as hypoplasminogenemia, is related to plasminogen deficiency, types i and ii and conjunctivitis. An important gene associated with Congenital Plasminogen Deficiency is PLG (plasminogen).

Aliases & Classifications for Congenital Plasminogen Deficiency

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21Genetics Home Reference, 62UMLS
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Aliases & Descriptions:

congenital plasminogen deficiency 21
hypoplasminogenemia 21 62
plasminogen deficiency, type i 21


Related Diseases for Congenital Plasminogen Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Congenital Plasminogen Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1plasminogen deficiency, types i and ii10.3
2conjunctivitis10.2
3conjunctivitis ligneous10.2
4type 1 plasminogen deficiency10.2
5coats disease10.1
6primary pulmonary hypertension10.1
7hypertension10.1
8laryngitis10.1
9thromboembolism10.1
10venous thromboembolism10.1
11factor v deficiency10.0

Graphical network of diseases related to Congenital Plasminogen Deficiency:



Diseases related to congenital plasminogen deficiency

Symptoms for Congenital Plasminogen Deficiency

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Drugs & Therapeutics for Congenital Plasminogen Deficiency

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Congenital Plasminogen Deficiency

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Anatomical Context for Congenital Plasminogen Deficiency

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Animal Models for Congenital Plasminogen Deficiency or affiliated genes

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Publications for Congenital Plasminogen Deficiency

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52PubMed
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Articles related to Congenital Plasminogen Deficiency:

idTitleAuthorsYear
1
Laryngeal obstruction in congenital plasminogen deficiency. (22328462)
2012
2
The first two Japanese cases of severe type I congenital plasminogen deficiency with ligneous conjunctivitis: successful treatment with direct thrombin inhibitor and fresh plasma. (19373890)
2009
3
Ligneous conjunctivitis secondary to a congenital plasminogen deficiency in a dog. (18312178)
2008
4
Molecular pathogenesis of type I congenital plasminogen deficiency: expression of recombinant human mutant plasminogens in mammalian cells. (8978291)
1997
5
A novel missense mutation in two families with congenital plasminogen deficiency: identification of an Ala675 to Thr675 substitution. (8713786)
1996
6
A patient with congenital plasminogen deficiency manifesting primary pulmonary hypertension. (8358126)
1993
7
Congenital plasminogen deficiency caused by a Ser-572 to Pro mutation. (8392398)
1993
8
Unusual thrombotic-like retinopathy (Coats' disease) associated with congenital plasminogen deficiency type I. (8258756)
1993
9
Type I congenital plasminogen deficiency is not a risk factor for thrombosis. (1621238)
1992
10
Congenital plasminogen deficiency associated with venous thromboembolism: therapeutic trial with stanozolol. (3730296)
1986

Variations for Congenital Plasminogen Deficiency

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Expression for genes affiliated with Congenital Plasminogen Deficiency

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Plasminogen Deficiency

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Pathways for genes affiliated with Congenital Plasminogen Deficiency

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Compounds for genes affiliated with Congenital Plasminogen Deficiency

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GO Terms for genes affiliated with Congenital Plasminogen Deficiency

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Products for genes affiliated with Congenital Plasminogen Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Plasminogen Deficiency

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet