MCID: CNG171
MIFTS: 16

Congenital Plasminogen Deficiency malady

Aliases & Classifications for Congenital Plasminogen Deficiency

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Aliases & Descriptions for Congenital Plasminogen Deficiency:

Name: Congenital Plasminogen Deficiency 23
Hypoplasminogenemia 23 65
 
Plasminogen Deficiency, Type I 23

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UMLS65 C0398621

Summaries for Congenital Plasminogen Deficiency

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Genetics Home Reference:23 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 based summary: Congenital Plasminogen Deficiency, also known as hypoplasminogenemia, is related to ligneous conjunctivitis and plasminogen deficiency, type i. An important gene associated with Congenital Plasminogen Deficiency is PLG (Plasminogen). Affiliated tissues include eye and adipocyte.

Related Diseases for Congenital Plasminogen Deficiency

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Diseases related to Congenital Plasminogen Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1ligneous conjunctivitis10.6
2plasminogen deficiency, type i10.5
3conjunctivitis9.9
4pulmonary hypertension9.7
5laryngitis9.7
6coats disease9.7

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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Drugs for Congenital Plasminogen Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Fibrinolytic AgentsPhase 2, Phase 3, Phase 11567
2PlasminogenPhase 2, Phase 3, Phase 1198
3TetrahydrozolinePhase 2, Phase 3542
4Ophthalmic SolutionsPhase 2, Phase 31006
5Coal TarPhase 2, Phase 3165

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Study of ProMetic Plasminogen IV Infusion in Subjects With HypoplasminogenemiaRecruitingNCT02690714Phase 2, Phase 3
2Efficacy/Safety of Human Plasminogen Eye Drop in Ligneous Conjunctivitis PatientsRecruitingNCT01554956Phase 2, Phase 3
3A Phase 1 Study of ProMetic Plasminogen (Human) Intravenous in Adults and Children With Plasminogen DeficiencyCompletedNCT02312180Phase 1

Search NIH Clinical Center for Congenital Plasminogen Deficiency

Genetic Tests for Congenital Plasminogen Deficiency

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Anatomical Context for Congenital Plasminogen Deficiency

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MalaCards organs/tissues related to Congenital Plasminogen Deficiency:

33
Eye, Adipocyte

Animal Models for Congenital Plasminogen Deficiency or affiliated genes

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Publications for Congenital Plasminogen Deficiency

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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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Search GEO for disease gene expression data for Congenital Plasminogen Deficiency.

Pathways for genes affiliated with Congenital Plasminogen Deficiency

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GO Terms for genes affiliated with Congenital Plasminogen Deficiency

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Sources for Congenital Plasminogen Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet