MCID: PLS030
MIFTS: 33

Plasminogen Deficiency, Type I

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

Aliases & Classifications for Plasminogen Deficiency, Type I

MalaCards integrated aliases for Plasminogen Deficiency, Type I:

Name: Plasminogen Deficiency, Type I 57 29 6 73
Hypoplasminogenemia 53 59 75 73
Ligneous Conjunctivitis 59 75 73
Dysplasminogenemia 57 75 6
Plasminogen Deficiency 75 37
Deficiency, Plasminogen, Type I 40
Plasminogen Deficiency Type Ii 75
Type 1 Plasminogen Deficiency 53
Plasminogen Deficiency Type 1 59
Plasminogen Deficiency Type I 75
Conjunctivitis Lignosa 59
Plgd 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
plasminogen deficiency, type i:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Plasminogen Deficiency, Type I

OMIM : 57 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. Affiliated tissues include eye, trachea and lung, and related phenotypes are macrocephaly and hydrocephalus

NIH Rare Diseases : 53 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 : 75 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.

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 17)
# Related Disease Score Top Affiliating Genes
1 ligneous conjunctivitis 12.7
2 congenital plasminogen deficiency 11.4
3 conjunctivitis 10.7
4 thrombosis 10.0
5 varicose veins 9.8
6 hemolytic uremic syndrome, atypical 1 9.8
7 aplastic anemia 9.8
8 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.8
9 paroxysmal nocturnal hemoglobinuria 9.8
10 choroiditis 9.8
11 hemolytic-uremic syndrome 9.8
12 retinitis 9.8
13 protein c deficiency 9.8
14 hemoglobinuria 9.8
15 pulmonary embolism 9.8
16 coats disease 9.7
17 type i 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Plasminogen Deficiency, Type I:

59 32 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 Very frequent (99-80%) HP:0000256
2 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000238
3 gingival overgrowth 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000212
4 blindness 59 32 Occasional (29-5%) HP:0000618
5 abnormality of vision 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000504
6 recurrent upper respiratory tract infections 59 32 Frequent (79-30%) HP:0002788
7 abnormality of the ovary 59 32 occasional (7.5%) Occasional (29-5%) HP:0000137
8 cerebellar hypoplasia 59 32 Very frequent (99-80%) HP:0001321
9 gingivitis 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000230
10 periodontitis 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0000704
11 nephrolithiasis 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000787
12 conjunctivitis 59 32 Very frequent (99-80%) HP:0000509
13 abnormality of the respiratory system 59 32 occasional (7.5%) Occasional (29-5%) HP:0002086
14 dandy-walker malformation 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001305
15 abnormality of the middle ear 59 32 occasional (7.5%) Occasional (29-5%) HP:0000370
16 abnormality of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000951
17 abnormality of the larynx 59 32 Frequent (79-30%) HP:0001600
18 abnormality of the fallopian tube 59 32 occasional (7.5%) Occasional (29-5%) HP:0011027
19 duodenal ulcer 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002588
20 nephritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000123
21 decreased level of plasminogen 59 32 hallmark (90%) Very frequent (99-80%) HP:0040228
22 cervicitis 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0030160
23 hyperreflexia 59 Occasional (29-5%)
24 global developmental delay 59 Very frequent (99-80%)
25 abnormality of the eye 59 Very frequent (99-80%)
26 abnormality of the gallbladder 59 Occasional (29-5%)
27 abnormality of metabolism/homeostasis 32 HP:0001939
28 hypercoagulability 59 Excluded (0%)
29 recurrent otitis media 59 Frequent (79-30%)
30 gastrointestinal inflammation 59 Frequent (79-30%)
31 recurrent pharyngitis 59 Frequent (79-30%)
32 recurrent pneumonia 59 Frequent (79-30%)
33 papule 59 Occasional (29-5%)
34 poor wound healing 59 Very frequent (99-80%)
35 abnormality of fontanelles 59 Occasional (29-5%)
36 abnormality of the mediastinum 59 Occasional (29-5%)
37 increased lacrimation 59 Very frequent (99-80%)
38 abnormality of the ear 32 HP:0000598
39 keratoconjunctivitis 59 Frequent (79-30%)
40 premature loss of teeth 59 Frequent (79-30%)
41 recurrent bronchitis 59 Frequent (79-30%)
42 stomatitis 59 Frequent (79-30%)
43 chronic irritative conjunctivitis 59 Very frequent (99-80%)
44 vaginitis 59 Occasional (29-5%)

Drugs & Therapeutics for Plasminogen Deficiency, Type I

Search Clinical Trials , 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 29 PLG

Anatomical Context for Plasminogen Deficiency, Type I

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

41
Eye, Trachea, Lung, Skin, Bone, Ovary, Cervix

Publications for Plasminogen Deficiency, Type I

Articles related to Plasminogen Deficiency, Type I:

# Title Authors Year
1
Unusual thrombotic-like retinopathy (Coats' disease) associated with congenital plasminogen deficiency type I. ( 8258756 )
1993

Variations for Plasminogen Deficiency, Type I

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

75
# 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 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLG NM_000301.3(PLG): c.1771T> C (p.Ser591Pro) single nucleotide variant Pathogenic rs121918029 GRCh38 Chromosome 6, 160736976: 160736976
2 PLG NM_000301.3(PLG): c.704G> A (p.Arg235His) single nucleotide variant Pathogenic rs121918030 GRCh37 Chromosome 6, 161137712: 161137712
3 PLG NM_000301.3(PLG): c.1771T> C (p.Ser591Pro) single nucleotide variant Pathogenic rs121918029 GRCh37 Chromosome 6, 161158008: 161158008
4 PLG NM_000301.3(PLG): c.1120G> T (p.Val374Phe) single nucleotide variant Pathogenic rs121918028 GRCh37 Chromosome 6, 161143463: 161143463
5 PLG NM_000301.3(PLG): c.1120G> T (p.Val374Phe) single nucleotide variant Pathogenic rs121918028 GRCh38 Chromosome 6, 160722431: 160722431
6 PLG NM_000301.3(PLG): c.704G> A (p.Arg235His) single nucleotide variant Pathogenic rs121918030 GRCh38 Chromosome 6, 160716680: 160716680
7 PLG NM_000301.3(PLG): c.1848G> A (p.Trp616Ter) single nucleotide variant Pathogenic rs121918031 GRCh37 Chromosome 6, 161159615: 161159615
8 PLG NM_000301.3(PLG): c.1848G> A (p.Trp616Ter) single nucleotide variant Pathogenic rs121918031 GRCh38 Chromosome 6, 160738583: 160738583
9 PLG NM_000301.3(PLG): c.1435G> T (p.Glu479Ter) single nucleotide variant Pathogenic rs121918032 GRCh37 Chromosome 6, 161152261: 161152261
10 PLG NM_000301.3(PLG): c.1435G> T (p.Glu479Ter) single nucleotide variant Pathogenic rs121918032 GRCh38 Chromosome 6, 160731229: 160731229
11 PLG NM_000301.3(PLG): c.2251G> A (p.Gly751Arg) single nucleotide variant Pathogenic rs121918033 GRCh37 Chromosome 6, 161173272: 161173272
12 PLG NM_000301.3(PLG): c.2251G> A (p.Gly751Arg) single nucleotide variant Pathogenic rs121918033 GRCh38 Chromosome 6, 160752240: 160752240
13 PLG NM_000301.3(PLG): c.691_693delAAG (p.Lys231del) deletion Pathogenic rs121918034 GRCh37 Chromosome 6, 161137699: 161137701
14 PLG NM_000301.3(PLG): c.691_693delAAG (p.Lys231del) deletion Pathogenic rs121918034 GRCh38 Chromosome 6, 160716667: 160716669
15 PLG NM_000301.3(PLG): c.2125+1delG deletion Pathogenic rs606231210 GRCh38 Chromosome 6, 160741418: 160741418
16 PLG NM_000301.3(PLG): c.2125+1delG deletion Pathogenic rs606231210 GRCh37 Chromosome 6, 161162450: 161162450
17 PLG NM_000301.3(PLG): c.112A> G (p.Lys38Glu) single nucleotide variant Pathogenic rs73015965 GRCh37 Chromosome 6, 161127501: 161127501
18 PLG NM_000301.3(PLG): c.112A> G (p.Lys38Glu) single nucleotide variant Pathogenic rs73015965 GRCh38 Chromosome 6, 160706469: 160706469
19 PLG NM_000301.3(PLG): c.185+1G> T single nucleotide variant Pathogenic rs886042477 GRCh37 Chromosome 6, 161127575: 161127575
20 PLG NM_000301.3(PLG): c.185+1G> T single nucleotide variant Pathogenic rs886042477 GRCh38 Chromosome 6, 160706543: 160706543

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:

37
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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