PLGD
MCID: PLS030
MIFTS: 44

Plasminogen Deficiency, Type I (PLGD) malady

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

Aliases & Classifications for Plasminogen Deficiency, Type I

Aliases & Descriptions for Plasminogen Deficiency, Type I:

Name: Plasminogen Deficiency, Type I 54 69
Hypoplasminogenemia 50 56 66 69
Conjunctivitis, Ligneous 24 13 52
Ligneous Conjunctivitis 56 66 69
Dysplasminogenemia 54 24 66
Plasminogen Deficiency Type 1 24 56
Plasminogen Deficiency Type I 66 29
Plasminogen Deficiency, Type I Ligneous Conjunctivitis, Included 54
Plasminogen Deficiency Type Ii 66
Type 1 Plasminogen Deficiency 50
Ligneous Congunctivitis 24
Conjunctivitis Lignosa 56
Plasminogen Deficiency 66
Plgd 66

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;

HPO:

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


Classifications:



External Ids:

OMIM 54 217090
UMLS via Orphanet 70 C0398621 C1274789
ICD10 via Orphanet 34 L90.5 H10.4
MeSH 42 D003231

Summaries for Plasminogen Deficiency, Type I

OMIM : 54 Congenital plasminogen deficiency is a rare autosomal recessive disorder characterized clinically by chronic muscosal... (217090) more...

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 Degradation of the extracellular matrix and Matrix Metalloproteinases. The drugs Acetylcysteine and Nitric Oxide have been mentioned in the context of this disorder. Affiliated tissues include eye, trachea and bone, 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 : 66 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 16)
id Related Disease Score Top Affiliating Genes
1 ligneous conjunctivitis 12.5
2 congenital plasminogen deficiency 11.4
3 conjunctivitis 10.6
4 hydrocephalus 10.0
5 thrombosis 9.9
6 sydenham chorea 9.8 ELANE PLG
7 mental retardation, autosomal recessive 28 9.7 ELANE PLG
8 pulmonary embolism 9.7
9 aplastic anemia 9.7
10 paroxysmal nocturnal hemoglobinuria 9.7
11 choroiditis 9.7
12 hemolytic-uremic syndrome 9.7
13 retinitis 9.7
14 protein c deficiency 9.7
15 hemoglobinuria 9.7
16 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 by clinical synopsis from OMIM:

217090

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

(show all 21)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
2
Nitric Oxide Approved Phase 4 10102-43-9 145068
3 Anti-Asthmatic Agents Phase 4
4 Antidotes Phase 4
5 Anti-Infective Agents Phase 4
6 Antioxidants Phase 4
7 Antiviral Agents Phase 4
8 Autonomic Agents Phase 4
9 Bronchodilator Agents Phase 4
10 Endothelium-Dependent Relaxing Factors Phase 4
11 Expectorants Phase 4
12 Neurotransmitter Agents Phase 4
13 N-monoacetylcystine Phase 4
14 Peripheral Nervous System Agents Phase 4
15 Protective Agents Phase 4
16 Respiratory System Agents Phase 4
17 Vasodilator Agents Phase 4
18 arginine Nutraceutical Phase 4
19
Coal tar Approved Phase 2, Phase 3 8007-45-2
20 Fibrinolytic Agents Phase 2, Phase 3,Phase 1
21 Plasminogen Phase 2, Phase 3,Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 N-Acetylcysteine and Arginine Administration in Diabetic Patients Terminated NCT00569465 Phase 4
2 A Study of ProMetic Plasminogen IV Infusion in Subjects With Hypoplasminogenemia Enrolling by invitation NCT02690714 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 Evaluating an Exercise Program to Reduce Cardiovascular Risk Factors in Children Infected With HIV Completed NCT00908284

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, Bone, Skin, Ovary

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:

66
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 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 PLG NM_000301.3(PLG): c.1858G> A (p.Ala620Thr) single nucleotide variant Pathogenic rs121918027 GRCh37 Chromosome 6, 161159625: 161159625
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.1771T> C (p.Ser591Pro) single nucleotide variant Pathogenic rs121918029 GRCh37 Chromosome 6, 161158008: 161158008
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.1848G> A (p.Trp616Ter) single nucleotide variant Pathogenic rs121918031 GRCh37 Chromosome 6, 161159615: 161159615
6 PLG NM_000301.3(PLG): c.1435G> T (p.Glu479Ter) single nucleotide variant Pathogenic rs121918032 GRCh37 Chromosome 6, 161152261: 161152261
7 PLG NM_000301.3(PLG): c.2251G> A (p.Gly751Arg) single nucleotide variant Pathogenic rs121918033 GRCh37 Chromosome 6, 161173272: 161173272
8 PLG NM_000301.3(PLG): c.691_693delAAG (p.Lys231del) deletion Pathogenic rs121918034 GRCh37 Chromosome 6, 161137699: 161137701
9 PLG NM_000301.3(PLG): c.2125+1delG deletion Pathogenic rs606231210 GRCh38 Chromosome 6, 160741418: 160741418
10 PLG NM_000301.3(PLG): c.112A> G (p.Lys38Glu) single nucleotide variant Pathogenic rs73015965 GRCh37 Chromosome 6, 161127501: 161127501
11 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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