MCID: CNG171
MIFTS: 21

Congenital Plasminogen Deficiency malady

Genetic diseases (common) category
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Summaries for Congenital Plasminogen Deficiency

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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 based summary: Congenital Plasminogen Deficiency, also known as plasminogen deficiency, type i, is related to conjunctivitis and type 1 plasminogen deficiency. An important gene associated with Congenital Plasminogen Deficiency is PLG (plasminogen).

Description from OMIM:46 217090

Aliases & Classifications for Congenital Plasminogen Deficiency

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Congenital Plasminogen Deficiency, Aliases & Descriptions:

Name: Congenital Plasminogen Deficiency 21 62
Plasminogen Deficiency, Type I 21 46
 
Hypoplasminogenaemia 62
Hypoplasminogenemia 21


Classifications:

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


Related Diseases for Congenital Plasminogen Deficiency

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

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1conjunctivitis10.2
2type 1 plasminogen deficiency10.2
3hypertension10.1
4pulmonary hypertension10.1
5coats disease10.1
6primary pulmonary hypertension10.1
7laryngitis10.1
8conjunctivitis ligneous10.1
9thromboembolism10.1
10dysplasminogenemia10.1
11venous thromboembolism10.1
12factor v deficiency10.1

Graphical network of diseases related to Congenital Plasminogen Deficiency:



Diseases related to congenital plasminogen deficiency

Symptoms for Congenital Plasminogen Deficiency

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Clinical features from OMIM:

217090

Drugs & Therapeutics for Congenital Plasminogen Deficiency

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Drug clinical trials:

Search ClinicalTrials for Congenital Plasminogen Deficiency

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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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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UniProtKB/Swiss-Prot genetic disease variations for Congenital Plasminogen Deficiency:

64
id Symbol AA change Variation ID SNP ID
1PLGp.Val374PheVAR_006627rs121918028
2PLGp.Ser591ProVAR_006628
3PLGp.Ala620ThrVAR_006629rs121918027
4PLGp.Gly751ArgVAR_006630
5PLGp.Lys38GluVAR_018657rs73015965
6PLGp.Leu147ProVAR_018658
7PLGp.Arg235HisVAR_018659
8PLGp.Arg532HisVAR_018660

Expression for genes affiliated with Congenital Plasminogen Deficiency

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Expression patterns in normal tissues for genes affiliated with Congenital Plasminogen Deficiency

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

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

Sources for Congenital 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