MCID: CNG171
MIFTS: 17

Congenital Plasminogen Deficiency

Aliases & Classifications for Congenital Plasminogen Deficiency

MalaCards integrated aliases for Congenital Plasminogen Deficiency:

Name: Congenital Plasminogen Deficiency 24
Hypoplasminogenemia 24 69
Plasminogen Deficiency, Type I 24

External Ids:

UMLS 69 C0398621

Summaries for Congenital Plasminogen Deficiency

Genetics Home Reference : 24 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). The drugs Ephedrine and Pseudoephedrine have been mentioned in the context of this disorder. Affiliated tissues include eye.

Related Diseases for Congenital Plasminogen Deficiency

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

# Related Disease Score Top Affiliating Genes
1 ligneous conjunctivitis 11.4
2 plasminogen deficiency, type i 11.4
3 conjunctivitis 9.8
4 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 9.7
5 coats disease 9.7
6 pulmonary hypertension 9.7
7 thrombosis 9.7
8 endometritis 9.7
9 cervicitis 9.7
10 laryngitis 9.7

Graphical network of the top 20 diseases related to Congenital Plasminogen Deficiency:



Diseases related to Congenital Plasminogen Deficiency

Symptoms & Phenotypes for Congenital Plasminogen Deficiency

Drugs & Therapeutics for Congenital Plasminogen Deficiency

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ephedrine Approved Phase 2, Phase 3 299-42-3 9294
2
Pseudoephedrine Approved Phase 2, Phase 3 90-82-4 7028
3
Coal tar Approved Phase 2, Phase 3 8007-45-2
4 Fibrinolytic Agents Phase 2, Phase 3, Phase 1
5 Plasminogen Phase 2, Phase 3, Phase 1
6 Respiratory System Agents Phase 2, Phase 3
7 Nasal Decongestants Phase 2, Phase 3
8 Tetrahydrozoline Phase 2, Phase 3
9 Vasoconstrictor Agents Phase 2, Phase 3
10 Ophthalmic Solutions Phase 2, Phase 3
11 Peripheral Nervous System Agents Phase 2, Phase 3
12 Pharmaceutical Solutions Phase 2, Phase 3
13 Autonomic Agents Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study of ProMetic Plasminogen IV Infusion in Subjects With Hypoplasminogenemia Active, not recruiting NCT02690714 Phase 2, Phase 3
2 Efficacy/Safety of Human Plasminogen Eye Drop in Ligneous Conjunctivitis Patients Active, not recruiting NCT01554956 Phase 2, Phase 3
3 A Phase 1 Study of ProMetic Plasminogen (Human) Intravenous in Adults and Children With Plasminogen Deficiency Completed NCT02312180 Phase 1
4 A Single-patient Study of Repeat-dose Administration of Prometic Plasminogen (Human) Intravenous Available NCT03265171

Search NIH Clinical Center for Congenital Plasminogen Deficiency

Genetic Tests for Congenital Plasminogen Deficiency

Anatomical Context for Congenital Plasminogen Deficiency

MalaCards organs/tissues related to Congenital Plasminogen Deficiency:

38
Eye

Publications for Congenital Plasminogen Deficiency

Articles related to Congenital Plasminogen Deficiency:

(show all 12)
# Title Authors Year
1
Ligneous cervicitis and endometritis: A gynaecological presentation of congenital plasminogen deficiency. ( 29436075 )
2018
2
Plasminogen replacement therapy for the treatment of children and adults with congenital plasminogen deficiency. ( 29321155 )
2018
3
Laryngeal obstruction in congenital plasminogen deficiency. ( 22328462 )
2012
4
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
5
Ligneous conjunctivitis secondary to a congenital plasminogen deficiency in a dog. ( 18312178 )
2008
6
Molecular pathogenesis of type I congenital plasminogen deficiency: expression of recombinant human mutant plasminogens in mammalian cells. ( 8978291 )
1997
7
A novel missense mutation in two families with congenital plasminogen deficiency: identification of an Ala675 to Thr675 substitution. ( 8713786 )
1996
8
Unusual thrombotic-like retinopathy (Coats' disease) associated with congenital plasminogen deficiency type I. ( 8258756 )
1993
9
A patient with congenital plasminogen deficiency manifesting primary pulmonary hypertension. ( 8358126 )
1993
10
Congenital plasminogen deficiency caused by a Ser-572 to Pro mutation. ( 8392398 )
1993
11
Type I congenital plasminogen deficiency is not a risk factor for thrombosis. ( 1621238 )
1992
12
Congenital plasminogen deficiency associated with venous thromboembolism: therapeutic trial with stanozolol. ( 3730296 )
1986

Variations for Congenital Plasminogen Deficiency

ClinVar genetic disease variations for Congenital Plasminogen Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLG NM_000301.3(PLG): c.704G> A (p.Arg235His) single nucleotide variant Pathogenic rs121918030 GRCh37 Chromosome 6, 161137712: 161137712
2 PLG NM_000301.3(PLG): c.1848G> A (p.Trp616Ter) single nucleotide variant Pathogenic rs121918031 GRCh37 Chromosome 6, 161159615: 161159615
3 PLG NM_000301.3(PLG): c.1435G> T (p.Glu479Ter) single nucleotide variant Pathogenic rs121918032 GRCh37 Chromosome 6, 161152261: 161152261
4 PLG NM_000301.3(PLG): c.691_693delAAG (p.Lys231del) deletion Pathogenic rs121918034 GRCh37 Chromosome 6, 161137699: 161137701
5 PLG NM_000301.3(PLG): c.2125+1delG deletion Pathogenic rs606231210 GRCh38 Chromosome 6, 160741418: 160741418
6 PLG NM_000301.3(PLG): c.112A> G (p.Lys38Glu) single nucleotide variant Pathogenic rs73015965 GRCh37 Chromosome 6, 161127501: 161127501
7 PLG NM_000301.3(PLG): c.185+1G> T single nucleotide variant Pathogenic rs886042477 GRCh37 Chromosome 6, 161127575: 161127575

Expression for Congenital Plasminogen Deficiency

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

Pathways for Congenital Plasminogen Deficiency

GO Terms for Congenital Plasminogen Deficiency

Sources for Congenital Plasminogen Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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29 HGMD
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