PLGD
MCID: PLS030
MIFTS: 39

Plasminogen Deficiency, Type I (PLGD)

Categories: Blood diseases, Bone diseases, Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Plasminogen Deficiency, Type I

MalaCards integrated aliases for Plasminogen Deficiency, Type I:

Name: Plasminogen Deficiency, Type I 58 30 6 74
Hypoplasminogenemia 54 60 76 74
Ligneous Conjunctivitis 60 76 74
Dysplasminogenemia 58 76 6
Plasminogen Deficiency 76 38
Deficiency, Plasminogen, Type I 41
Plasminogen Deficiency Type Ii 76
Type 1 Plasminogen Deficiency 54
Plasminogen Deficiency Type 1 60
Plasminogen Deficiency Type I 76
Conjunctivitis Lignosa 60
Plgd 76

Characteristics:

Orphanet epidemiological data:

60
hypoplasminogenemia
Inheritance: Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages;
ligneous conjunctivitis
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset usually in infancy or early childhood
adult onset of symptoms has been reported
slightly increased female:male ratio (1.4:1 to 2:1)
pseudomembrane formation triggered by injury, infection, irritation, surgery
estimated prevalence of 1.6 in 1,000,000 individuals in the u.k.
increased prevalence in individuals of turkish descent


HPO:

33
plasminogen deficiency, type i:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Plasminogen Deficiency, Type I

OMIM : 58 Congenital plasminogen deficiency is a rare autosomal recessive disorder characterized clinically by chronic mucosal pseudomembranous lesions consisting of subepithelial fibrin deposition and inflammation. The most common clinical manifestation is ligneous ('wood-like') conjunctivitis, a redness and subsequent formation of pseudomembranes mostly on the palpebral surfaces of the eye that progress to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa. The lesions may be triggered by local injury and/or infection and often recur after local excision. Pseudomembranous lesions of other mucous membranes often occur in the mouth, nasopharynx, trachea, and female genital tract. Some affected children also have congenital occlusive hydrocephalus. A slightly increased female:male ratio has been observed (1.4:1 to 2:1) (Schuster and Seregard, 2003; Tefs et al., 2006). Type I plasminogen deficiency is characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and clinical symptoms, whereas type II plasminogen deficiency, also known as 'dysplasminogenemia,' is characterized by decreased plasminogen activity with normal or slightly reduced antigen levels. Patients with type II deficiency are usually asymptomatic. Ligneous conjunctivitis and pseudomembranous formation has only been associated with type I plasminogen deficiency. Presumably, normal amounts of plasminogen antigen with decreased activity, as seen in type II, is sufficient for normal wound healing (Schuster and Seregard, 2003). (217090)

MalaCards based summary : Plasminogen Deficiency, Type I, also known as hypoplasminogenemia, is related to ligneous conjunctivitis and congenital plasminogen deficiency. An important gene associated with Plasminogen Deficiency, Type I is PLG (Plasminogen), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Complement and coagulation cascades. The drugs Fibrinolytic Agents and Ophthalmic Solutions have been mentioned in the context of this disorder. Affiliated tissues include eye, trachea and skin, and related phenotypes are abnormality of vision and decreased level of plasminogen

NIH Rare Diseases : 54 Type 1 plasminogen deficiency is a genetic condition associated with inflammed growths on the mucous membranes, the moist tissues that line body openings such as the eye, mouth, nasopharynx, trachea, and female genital tract. The growths may be triggered by local injury and/or infection and often recur after removal. The growths are caused by the deposition of fibrin (a protein involved in blood clotting) and by inflammation. The most common clinical finding is ligneous ('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. This can lead to vision loss. Growths in other areas can also lead to medical problems; those that occur in the gastrointestinal tract can cause ulcers, and growth in the windpipe can lead to breathing problems. Hydrocephalus may be present at birth in a small number of individuals. Type 1 plasminogen deficiency is caused by mutations in the PLG gene. It is inherited in an autosomal recessive pattern. Management depends upon the sites involved, but mainly focuses on managing the ligneous conjunctivitis.

UniProtKB/Swiss-Prot : 76 Plasminogen deficiency: A disorder characterized by decreased serum plasminogen activity. Two forms of the disorder are distinguished: type 1 deficiency is additionally characterized by decreased plasminogen antigen levels and clinical symptoms, whereas type 2 deficiency, also known as dysplasminogenemia, is characterized by normal, or slightly reduced antigen levels, and absence of clinical manifestations. Plasminogen deficiency type 1 results in markedly impaired extracellular fibrinolysis and chronic mucosal pseudomembranous lesions due to subepithelial fibrin deposition and inflammation. The most common clinical manifestation of type 1 deficiency is ligneous conjunctivitis in which pseudomembranes formation on the palpebral surfaces of the eye progresses to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa.

Wikipedia : 77 Plasmin is an important enzyme (EC 3.4.21.7) present in blood that degrades many blood plasma proteins,... more...

Related Diseases for Plasminogen Deficiency, Type I

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 ligneous conjunctivitis 12.9
2 congenital plasminogen deficiency 11.6
3 conjunctivitis 11.1
4 hydrocephalus 10.4
5 thrombosis 10.2
6 lymphoma 10.2
7 congenital hydrocephalus 10.2
8 cataract 10.2
9 strabismus 10.1
10 dandy-walker syndrome 10.1
11 crohn's disease 10.1
12 autosomal recessive disease 10.1
13 igg4-related disease 10.1
14 periodontitis 10.1
15 mechanical strabismus 10.1
16 hydrocele 10.1
17 factor v deficiency 10.0
18 pulmonary hypertension 10.0
19 varicose veins 10.0
20 hemolytic uremic syndrome, atypical 1 10.0
21 aplastic anemia 10.0
22 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.0
23 paroxysmal nocturnal hemoglobinuria 10.0
24 hemolytic-uremic syndrome 10.0
25 protein c deficiency 10.0
26 hemoglobinuria 10.0
27 pulmonary embolism 10.0
28 gingivitis 10.0
29 coats disease 9.8
30 cervicitis 9.8
31 otitis media 9.7
32 rheumatoid arthritis 9.7
33 factor xi deficiency 9.7
34 arthritis 9.7
35 mucositis 9.7
36 endometritis 9.7
37 vaginitis 9.7
38 arteriosclerosis 9.7

Graphical network of the top 20 diseases related to Plasminogen Deficiency, Type I:



Diseases related to Plasminogen Deficiency, Type I

Symptoms & Phenotypes for Plasminogen Deficiency, Type I

Human phenotypes related to Plasminogen Deficiency, Type I:

60 33 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of vision 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000504
2 decreased level of plasminogen 60 33 hallmark (90%) Very frequent (99-80%) HP:0040228
3 gingival overgrowth 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000212
4 gingivitis 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000230
5 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000238
6 abnormality of the ovary 60 33 occasional (7.5%) Occasional (29-5%) HP:0000137
7 periodontitis 60 33 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0000704
8 nephrolithiasis 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000787
9 abnormality of the respiratory system 60 33 occasional (7.5%) Occasional (29-5%) HP:0002086
10 dandy-walker malformation 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001305
11 abnormality of the middle ear 60 33 occasional (7.5%) Occasional (29-5%) HP:0000370
12 abnormality of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0000951
13 abnormality of the fallopian tube 60 33 occasional (7.5%) Occasional (29-5%) HP:0011027
14 duodenal ulcer 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002588
15 nephritis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000123
16 cervicitis 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0030160
17 macrocephaly 60 33 Very frequent (99-80%) HP:0000256
18 blindness 60 33 Occasional (29-5%) HP:0000618
19 recurrent upper respiratory tract infections 60 33 Frequent (79-30%) HP:0002788
20 cerebellar hypoplasia 60 33 Very frequent (99-80%) HP:0001321
21 conjunctivitis 60 33 Very frequent (99-80%) HP:0000509
22 abnormality of the larynx 60 33 Frequent (79-30%) HP:0001600
23 hyperreflexia 60 Occasional (29-5%)
24 global developmental delay 60 Very frequent (99-80%)
25 abnormality of the eye 60 Very frequent (99-80%)
26 abnormality of the gallbladder 60 Occasional (29-5%)
27 abnormality of metabolism/homeostasis 33 HP:0001939
28 hypercoagulability 60 Excluded (0%)
29 recurrent otitis media 60 Frequent (79-30%)
30 gastrointestinal inflammation 60 Frequent (79-30%)
31 recurrent pharyngitis 60 Frequent (79-30%)
32 recurrent pneumonia 60 Frequent (79-30%)
33 papule 60 Occasional (29-5%)
34 poor wound healing 60 Very frequent (99-80%)
35 abnormality of fontanelles 60 Occasional (29-5%)
36 abnormality of the mediastinum 60 Occasional (29-5%)
37 increased lacrimation 60 Very frequent (99-80%)
38 abnormality of the ear 33 HP:0000598
39 keratoconjunctivitis 60 Frequent (79-30%)
40 premature loss of teeth 60 Frequent (79-30%)
41 recurrent bronchitis 60 Frequent (79-30%)
42 stomatitis 60 Frequent (79-30%)
43 chronic irritative conjunctivitis 60 Very frequent (99-80%)
44 vaginitis 60 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly

Neurologic Central Nervous System:
cerebellar hypoplasia
dandy-walker malformation
occlusive hydrocephalus, congenital

Abdomen Gastrointestinal:
duodenal ulcer
pseudomembranous inflammation of the gastrointestinal mucosa

Head And Neck Teeth:
tooth loss
gingivitis, severe

Head And Neck Ears:
pseudomembranous inflammation of the middle ear

Respiratory Nasopharynx:
pseudomembranous inflammation of the nasopharynx

Respiratory Airways:
pseudomembranous inflammation of the bronchi
airway obstruction

Genitourinary Internal Genitalia Female:
pseudomembranous inflammation of the vaginal mucosa or cervix

Laboratory Abnormalities:
decreased plasminogen antigen
decreased plasminogen activity
subepithelial fibrin deposition with inflammation (pseudomembranous inflammation) of mucosal tissues

Head And Neck Eyes:
visual impairment
blindness
ligneous conjunctivitis
chronic tearing
redness of the conjunctivae
more
Head And Neck Mouth:
periodontitis
gingival hyperplasia
ligneous gingivitis
pseudomembranous inflammation of the oral mucosa

Genitourinary Kidneys:
renal calculi (rare)
pseudomembranous, calcified plaques in the renal collecting system (rare)
acute nephritis (rare)

Respiratory:
upper respiratory tract infections
pseudomembranous inflammation of the sinuses

Cardiovascular Vascular:
no increased risk of thrombotic vascular events

Respiratory Larynx:
pseudomembranous inflammation of the larynx

Respiratory Lung:
pseudomembranous inflammation of the lung

Skin Nails Hair Skin:
juvenile colloid milium
small papules on sun-exposed areas

Clinical features from OMIM:

217090

Drugs & Therapeutics for Plasminogen Deficiency, Type I

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Fibrinolytic Agents Phase 2, Phase 3
2 Ophthalmic Solutions Phase 2, Phase 3
3 Plasminogen Phase 2, Phase 3
4 Pharmaceutical Solutions Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy/Safety of Human Plasminogen Eye Drop in Ligneous Conjunctivitis Patients Unknown status NCT01554956 Phase 2, Phase 3

Search NIH Clinical Center for Plasminogen Deficiency, Type I

Genetic Tests for Plasminogen Deficiency, Type I

Genetic tests related to Plasminogen Deficiency, Type I:

# Genetic test Affiliating Genes
1 Plasminogen Deficiency, Type I 30 PLG

Anatomical Context for Plasminogen Deficiency, Type I

MalaCards organs/tissues related to Plasminogen Deficiency, Type I:

42
Eye, Trachea, Skin, Lung, Bone, Ovary, Cervix

Publications for Plasminogen Deficiency, Type I

Articles related to Plasminogen Deficiency, Type I:

# Title Authors Year
1
Gingival swelling associated with hypoplasminogenemia. ( 27521869 )
2016
2
Isoelectric focusing pattern of plasminogen mutants of patients with hypoplasminogenemia: correlation of in-vitro data with computer-predicted isoelectric points (pI). ( 21537161 )
2011
3
Hypoplasminogenemia with ligneous periodontitis: a failed local therapeutic approach. ( 17539733 )
2007
4
Juvenile colloid milium and ligneous conjunctivitis are caused by severe hypoplasminogenemia--no evidence for causal relationship to non-Hodgkin's lymphoma. ( 17062083 )
2006
5
Oral lesions indicative of plasminogen deficiency (hypoplasminogenemia). ( 11250632 )
2001
6
Unusual thrombotic-like retinopathy (Coats' disease) associated with congenital plasminogen deficiency type I. ( 8258756 )
1993
7
Danazol therapy in hypoplasminogenemia. ( 1412174 )
1992
8
Recurring thromboembolic disease and pulmonary hypertension associated with severe hypoplasminogenemia. ( 4003389 )
1985

Variations for Plasminogen Deficiency, Type I

UniProtKB/Swiss-Prot genetic disease variations for Plasminogen Deficiency, Type I:

76
# Symbol AA change Variation ID SNP ID
1 PLG p.Val374Phe VAR_006627 rs121918028
2 PLG p.Ser591Pro VAR_006628 rs121918029
3 PLG p.Ala620Thr VAR_006629 rs121918027
4 PLG p.Gly751Arg VAR_006630 rs121918033
5 PLG p.Lys38Glu VAR_018657 rs73015965
6 PLG p.Leu147Pro VAR_018658 rs770198253
7 PLG p.Arg235His VAR_018659 rs121918030
8 PLG p.Arg532His VAR_018660

ClinVar genetic disease variations for Plasminogen Deficiency, Type I:

6 (show all 23)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLG NM_000301.3(PLG): c.1771T> C (p.Ser591Pro) single nucleotide variant Pathogenic rs121918029 GRCh37 Chromosome 6, 161158008: 161158008
2 PLG NM_000301.3(PLG): c.1120G> T (p.Val374Phe) single nucleotide variant Pathogenic rs121918028 GRCh38 Chromosome 6, 160722431: 160722431
3 PLG NM_000301.3(PLG): c.1771T> C (p.Ser591Pro) single nucleotide variant Pathogenic rs121918029 GRCh38 Chromosome 6, 160736976: 160736976
4 PLG NM_000301.3(PLG): c.704G> A (p.Arg235His) single nucleotide variant Pathogenic rs121918030 GRCh37 Chromosome 6, 161137712: 161137712
5 PLG NM_000301.3(PLG): c.1858G> A (p.Ala620Thr) single nucleotide variant Uncertain significance rs121918027 GRCh37 Chromosome 6, 161159625: 161159625
6 PLG NM_000301.3(PLG): c.1858G> A (p.Ala620Thr) single nucleotide variant Uncertain significance rs121918027 GRCh38 Chromosome 6, 160738593: 160738593
7 PLG NM_000301.3(PLG): c.1120G> T (p.Val374Phe) single nucleotide variant Pathogenic rs121918028 GRCh37 Chromosome 6, 161143463: 161143463
8 PLG NM_000301.3(PLG): c.704G> A (p.Arg235His) single nucleotide variant Pathogenic rs121918030 GRCh38 Chromosome 6, 160716680: 160716680
9 PLG NM_000301.3(PLG): c.1848G> A (p.Trp616Ter) single nucleotide variant Pathogenic rs121918031 GRCh37 Chromosome 6, 161159615: 161159615
10 PLG NM_000301.3(PLG): c.1848G> A (p.Trp616Ter) single nucleotide variant Pathogenic rs121918031 GRCh38 Chromosome 6, 160738583: 160738583
11 PLG NM_000301.3(PLG): c.1435G> T (p.Glu479Ter) single nucleotide variant Pathogenic rs121918032 GRCh37 Chromosome 6, 161152261: 161152261
12 PLG NM_000301.3(PLG): c.1435G> T (p.Glu479Ter) single nucleotide variant Pathogenic rs121918032 GRCh38 Chromosome 6, 160731229: 160731229
13 PLG NM_000301.3(PLG): c.2251G> A (p.Gly751Arg) single nucleotide variant Pathogenic rs121918033 GRCh37 Chromosome 6, 161173272: 161173272
14 PLG NM_000301.3(PLG): c.2251G> A (p.Gly751Arg) single nucleotide variant Pathogenic rs121918033 GRCh38 Chromosome 6, 160752240: 160752240
15 PLG NM_000301.3(PLG): c.691_693delAAG (p.Lys231del) deletion Pathogenic rs121918034 GRCh37 Chromosome 6, 161137699: 161137701
16 PLG NM_000301.3(PLG): c.691_693delAAG (p.Lys231del) deletion Pathogenic rs121918034 GRCh38 Chromosome 6, 160716667: 160716669
17 PLG NM_000301.3(PLG): c.2125+1delG deletion Pathogenic rs606231210 GRCh38 Chromosome 6, 160741418: 160741418
18 PLG NM_000301.3(PLG): c.2125+1delG deletion Pathogenic rs606231210 GRCh37 Chromosome 6, 161162450: 161162450
19 PLG NM_000301.3(PLG): c.112A> G (p.Lys38Glu) single nucleotide variant Pathogenic rs73015965 GRCh37 Chromosome 6, 161127501: 161127501
20 PLG NM_000301.3(PLG): c.112A> G (p.Lys38Glu) single nucleotide variant Pathogenic rs73015965 GRCh38 Chromosome 6, 160706469: 160706469
21 PLG NM_000301.3(PLG): c.1469G> A (p.Arg490Gln) single nucleotide variant Uncertain significance rs140537724 GRCh37 Chromosome 6, 161152807: 161152807
22 PLG NM_000301.3(PLG): c.1469G> A (p.Arg490Gln) single nucleotide variant Uncertain significance rs140537724 GRCh38 Chromosome 6, 160731775: 160731775
23 PLG NM_000301.3(PLG): c.1469G> A (p.Arg490Gln) single nucleotide variant Uncertain significance rs140537724 NCBI36 Chromosome 6, 161072797: 161072797

Expression for Plasminogen Deficiency, Type I

Search GEO for disease gene expression data for Plasminogen Deficiency, Type I.

Pathways for Plasminogen Deficiency, Type I

Pathways related to Plasminogen Deficiency, Type I according to KEGG:

38
# Name Kegg Source Accession
1 Neuroactive ligand-receptor interaction hsa04080
2 Complement and coagulation cascades hsa04610

GO Terms for Plasminogen Deficiency, Type I

Sources for Plasminogen Deficiency, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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