MCID: PLS030
MIFTS: 43

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 54 29 69
Hypoplasminogenemia 50 56 71 69
Conjunctivitis, Ligneous 24 13 52
Ligneous Conjunctivitis 56 71 69
Dysplasminogenemia 54 24 71
Plasminogen Deficiency Type 1 24 56
Plasminogen Deficiency Type Ii 71
Type 1 Plasminogen Deficiency 50
Plasminogen Deficiency Type I 71
Ligneous Congunctivitis 24
Conjunctivitis Lignosa 56
Plasminogen Deficiency 71
Plgd 71

Characteristics:

Orphanet epidemiological data:

56
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:

54
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 : 54
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 nephrolithiasis, hydrocephalus and cerebellar hypoplasia. An important gene associated with Plasminogen Deficiency, Type I is PLG (Plasminogen), and among its related pathways/superpathways are Degradation of the extracellular matrix and Matrix Metalloproteinases. The drugs Fibrinolytic Agents and Plasminogen have been mentioned in the context of this disorder. Affiliated tissues include eye, trachea and lung, and related phenotype is neoplasm.

NIH Rare Diseases : 50 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

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.

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)
id Related Disease Score Top Affiliating Genes
1 ligneous conjunctivitis 12.5
2 congenital plasminogen deficiency 11.3
3 conjunctivitis 10.6
4 hydrocephalus 10.0
5 thrombosis 9.9
6 pulmonary embolism 9.7
7 aplastic anemia 9.7
8 paroxysmal nocturnal hemoglobinuria 9.7
9 choroiditis 9.7
10 hemolytic-uremic syndrome 9.7
11 retinitis 9.7
12 protein c deficiency 9.7
13 hemoglobinuria 9.7
14 coats disease 9.7
15 lubani-al saleh-teebi syndrome 9.5 ELANE PLG
16 deafness, autosomal recessive 38 9.4 ELANE PLG
17 brill-zinsser disease 9.2 ELANE PLG

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:

54

Head And Neck- Eyes:
visual impairment
blindness
ligneous conjunctivitis
chronic tearing
redness of the conjunctivae
more
Head And Neck- Head:
macrocephaly

Head And Neck- Mouth:
gingival hyperplasia
ligneous gingivitis
pseudomembranous inflammation of the oral mucosa
periodontitis

Head And Neck- Ears:
pseudomembranous inflammation of the middle ear

Cardiovascular- Vascular:
no increased risk of thrombotic vascular events

Respiratory- Larynx:
pseudomembranous inflammation of the larynx

Respiratory- Lung:
pseudomembranous inflammation of the lung

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

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

Respiratory:
upper respiratory tract infections
pseudomembranous inflammation of the sinuses

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

Head And Neck- Teeth:
tooth loss
gingivitis, severe

Respiratory- Nasopharynx:
pseudomembranous inflammation of the nasopharynx

Respiratory- Airways:
pseudomembranous inflammation of the bronchi
airway obstruction

Abdomen- Gastroin testinal:
pseudomembranous inflammation of the gastrointestinal mucosa
duodenal ulcer

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:

56 32 (show all 43)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrolithiasis 56 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000787
2 hydrocephalus 56 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000238
3 cerebellar hypoplasia 56 32 Very frequent (99-80%) HP:0001321
4 macrocephaly 56 32 Very frequent (99-80%) HP:0000256
5 blindness 56 32 Occasional (29-5%) HP:0000618
6 nephritis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000123
7 dandy-walker malformation 56 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001305
8 gingivitis 56 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000230
9 conjunctivitis 56 32 Very frequent (99-80%) HP:0000509
10 periodontitis 56 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0000704
11 duodenal ulcer 56 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002588
12 recurrent upper respiratory tract infections 56 32 Frequent (79-30%) HP:0002788
13 gingival overgrowth 56 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000212
14 abnormality of vision 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000504
15 abnormality of the ovary 56 32 occasional (7.5%) Occasional (29-5%) HP:0000137
16 abnormality of the respiratory system 56 32 occasional (7.5%) Occasional (29-5%) HP:0002086
17 abnormality of the middle ear 56 32 occasional (7.5%) Occasional (29-5%) HP:0000370
18 abnormality of the skin 56 32 occasional (7.5%) Occasional (29-5%) HP:0000951
19 abnormality of the larynx 56 32 Frequent (79-30%) HP:0001600
20 abnormality of the fallopian tube 56 32 occasional (7.5%) Occasional (29-5%) HP:0011027
21 cervicitis 56 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0030160
22 hyperreflexia 56 Occasional (29-5%)
23 global developmental delay 56 Very frequent (99-80%)
24 recurrent pneumonia 56 Frequent (79-30%)
25 poor wound healing 56 Very frequent (99-80%)
26 recurrent otitis media 56 Frequent (79-30%)
27 premature loss of teeth 56 Frequent (79-30%)
28 stomatitis 56 Frequent (79-30%)
29 recurrent bronchitis 56 Frequent (79-30%)
30 keratoconjunctivitis 56 Frequent (79-30%)
31 abnormality of the eye 56 Very frequent (99-80%)
32 abnormality of the gallbladder 56 Occasional (29-5%)
33 abnormality of metabolism/homeostasis 32 HP:0001939
34 hypercoagulability 56 Excluded (0%)
35 recurrent pharyngitis 56 Frequent (79-30%)
36 papule 56 Occasional (29-5%)
37 gastrointestinal inflammation 56 Frequent (79-30%)
38 abnormality of fontanelles 56 Occasional (29-5%)
39 increased lacrimation 56 Very frequent (99-80%)
40 abnormality of the mediastinum 56 Occasional (29-5%)
41 abnormality of the ear 32 HP:0000598
42 chronic irritative conjunctivitis 56 Very frequent (99-80%)
43 vaginitis 56 Occasional (29-5%)

MGI Mouse Phenotypes related to Plasminogen Deficiency, Type I:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.62 ELANE PLG

Drugs & Therapeutics for Plasminogen Deficiency, Type I

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Fibrinolytic Agents Phase 1
2 Plasminogen Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 A Phase 1 Study of ProMetic Plasminogen (Human) Intravenous in Adults and Children With Plasminogen Deficiency Completed NCT02312180 Phase 1

Search NIH Clinical Center for Plasminogen Deficiency, Type I

Genetic Tests for Plasminogen Deficiency, Type I

Genetic tests related to Plasminogen Deficiency, Type I:

id Genetic test Affiliating Genes
1 Plasminogen Deficiency, Type I 29
2 Plasminogen Deficiency Type 1 24 PLG

Anatomical Context for Plasminogen Deficiency, Type I

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

39
Eye, Trachea, Lung, Bone, Skin, Ovary, Cervix

Publications for Plasminogen Deficiency, Type I

Articles related to Plasminogen Deficiency, Type I:

id 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
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 PLG NM_000301.3(PLG): c.691_693delAAG (p.Lys231del) deletion Pathogenic rs121918034 GRCh38 Chromosome 6, 160716667: 160716669
2 PLG NM_000301.3(PLG): c.2125+1delG deletion Pathogenic rs606231210 GRCh38 Chromosome 6, 160741418: 160741418
3 PLG NM_000301.3(PLG): c.2251G> A (p.Gly751Arg) single nucleotide variant Pathogenic rs121918033 GRCh37 Chromosome 6, 161173272: 161173272
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.1771T> C (p.Ser591Pro) single nucleotide variant Pathogenic rs121918029 GRCh37 Chromosome 6, 161158008: 161158008
6 PLG NM_000301.3(PLG): c.704G> A (p.Arg235His) single nucleotide variant Pathogenic rs121918030 GRCh37 Chromosome 6, 161137712: 161137712
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.1435G> T (p.Glu479Ter) single nucleotide variant Pathogenic rs121918032 GRCh37 Chromosome 6, 161152261: 161152261
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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.91 ELANE PLG
2
Show member pathways
11.15 ELANE PLG
3 10.64 ELANE PLG
4 10.21 ELANE PLG

GO Terms for Plasminogen Deficiency, Type I

Cellular components related to Plasminogen Deficiency, Type I according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 8.62 ELANE PLG

Biological processes related to Plasminogen Deficiency, Type I according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 8.96 ELANE PLG
2 extracellular matrix disassembly GO:0022617 8.62 ELANE PLG

Molecular functions related to Plasminogen Deficiency, Type I according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.26 ELANE PLG
2 serine-type endopeptidase activity GO:0004252 9.16 ELANE PLG
3 serine-type peptidase activity GO:0008236 8.96 ELANE PLG
4 endopeptidase activity GO:0004175 8.62 ELANE PLG

Sources for Plasminogen Deficiency, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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