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 53 28 69
Hypoplasminogenemia 49 55 71 69
Ligneous Conjunctivitis 55 71 69
Plasminogen Deficiency 71 36
Dysplasminogenemia 53 71
Plasminogen Deficiency Type Ii 71
Type 1 Plasminogen Deficiency 49
Plasminogen Deficiency Type 1 55
Plasminogen Deficiency Type I 71
Conjunctivitis Lignosa 55
Plgd 71

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:

31
plasminogen deficiency, type i:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Plasminogen Deficiency, Type I

OMIM : 53 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, and has symptoms including macrocephaly, hydrocephalus and gingival overgrowth. 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.

UniProtKB/Swiss-Prot : 71 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.

NIH Rare Diseases : 49 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. Last updated: 6/13/2016

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 18)
# Related Disease Score Top Affiliating Genes
1 ligneous conjunctivitis 12.7
2 congenital plasminogen deficiency 11.5
3 conjunctivitis 10.7
4 hydrocephalus 10.1
5 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 10.0
6 thrombosis 10.0
7 varicose veins 9.8
8 hemolytic uremic syndrome, atypical 1 9.8
9 aplastic anemia 9.8
10 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.8
11 paroxysmal nocturnal hemoglobinuria 9.8
12 choroiditis 9.8
13 hemolytic-uremic syndrome 9.8
14 retinitis 9.8
15 protein c deficiency 9.8
16 hemoglobinuria 9.8
17 pulmonary embolism 9.8
18 coats disease 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:

53
Head And Neck Head:
macrocephaly

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

Abdomen Gastroin testinal:
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:

55 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 55 31 Very frequent (99-80%) HP:0000256
2 hydrocephalus 55 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000238
3 gingival overgrowth 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000212
4 blindness 55 31 Occasional (29-5%) HP:0000618
5 abnormality of vision 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000504
6 recurrent upper respiratory tract infections 55 31 Frequent (79-30%) HP:0002788
7 abnormality of the ovary 55 31 occasional (7.5%) Occasional (29-5%) HP:0000137
8 cerebellar hypoplasia 55 31 Very frequent (99-80%) HP:0001321
9 gingivitis 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000230
10 periodontitis 55 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0000704
11 nephrolithiasis 55 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000787
12 conjunctivitis 55 31 Very frequent (99-80%) HP:0000509
13 abnormality of the respiratory system 55 31 occasional (7.5%) Occasional (29-5%) HP:0002086
14 dandy-walker malformation 55 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001305
15 abnormality of the middle ear 55 31 occasional (7.5%) Occasional (29-5%) HP:0000370
16 abnormality of the skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0000951
17 abnormality of the larynx 55 31 Frequent (79-30%) HP:0001600
18 abnormality of the fallopian tube 55 31 occasional (7.5%) Occasional (29-5%) HP:0011027
19 duodenal ulcer 55 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002588
20 nephritis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000123
21 decreased level of plasminogen 55 31 hallmark (90%) Very frequent (99-80%) HP:0040228
22 cervicitis 55 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0030160
23 recurrent pharyngitis 55 Frequent (79-30%)
24 hyperreflexia 55 Occasional (29-5%)
25 global developmental delay 55 Very frequent (99-80%)
26 abnormality of the eye 55 Very frequent (99-80%)
27 abnormality of the gallbladder 55 Occasional (29-5%)
28 abnormality of metabolism/homeostasis 31 HP:0001939
29 hypercoagulability 55 Excluded (0%)
30 recurrent otitis media 55 Frequent (79-30%)
31 gastrointestinal inflammation 55 Frequent (79-30%)
32 recurrent pneumonia 55 Frequent (79-30%)
33 papule 55 Occasional (29-5%)
34 poor wound healing 55 Very frequent (99-80%)
35 abnormality of fontanelles 55 Occasional (29-5%)
36 abnormality of the mediastinum 55 Occasional (29-5%)
37 increased lacrimation 55 Very frequent (99-80%)
38 premature loss of teeth 55 Frequent (79-30%)
39 abnormality of the ear 31 HP:0000598
40 keratoconjunctivitis 55 Frequent (79-30%)
41 recurrent bronchitis 55 Frequent (79-30%)
42 stomatitis 55 Frequent (79-30%)
43 chronic irritative conjunctivitis 55 Very frequent (99-80%)
44 vaginitis 55 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 28 PLG

Anatomical Context for Plasminogen Deficiency, Type I

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

38
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:

71
# 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
# 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.1120G> T (p.Val374Phe) single nucleotide variant Pathogenic rs121918028 GRCh37 Chromosome 6, 161143463: 161143463
3 PLG NM_000301.3(PLG): c.704G> A (p.Arg235His) single nucleotide variant Pathogenic rs121918030 GRCh37 Chromosome 6, 161137712: 161137712
4 PLG NM_000301.3(PLG): c.1848G> A (p.Trp616Ter) single nucleotide variant Pathogenic rs121918031 GRCh37 Chromosome 6, 161159615: 161159615
5 PLG NM_000301.3(PLG): c.1435G> T (p.Glu479Ter) single nucleotide variant Pathogenic rs121918032 GRCh37 Chromosome 6, 161152261: 161152261
6 PLG NM_000301.3(PLG): c.2251G> A (p.Gly751Arg) single nucleotide variant Pathogenic rs121918033 GRCh37 Chromosome 6, 161173272: 161173272
7 PLG NM_000301.3(PLG): c.691_693delAAG (p.Lys231del) deletion Pathogenic rs121918034 GRCh37 Chromosome 6, 161137699: 161137701
8 PLG NM_000301.3(PLG): c.2125+1delG deletion Pathogenic rs606231210 GRCh38 Chromosome 6, 160741418: 160741418
9 PLG NM_000301.3(PLG): c.112A> G (p.Lys38Glu) single nucleotide variant Pathogenic rs73015965 GRCh37 Chromosome 6, 161127501: 161127501
10 PLG NM_000301.3(PLG): c.185+1G> T single nucleotide variant Pathogenic rs886042477 GRCh37 Chromosome 6, 161127575: 161127575

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:

36
# 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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