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

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Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Plasminogen Deficiency, Type I:

Name: Plasminogen Deficiency, Type I 52 68
Hypoplasminogenemia 48 54 70 68
Conjunctivitis, Ligneous 24 12 50
Ligneous Conjunctivitis 54 70 68
Dysplasminogenemia 52 24 70
Plasminogen Deficiency Type 1 24 54
Plasminogen Deficiency Type I 70 27
 
Plasminogen Deficiency, Type I Ligneous Conjunctivitis, Included 52
Plasminogen Deficiency Type Ii 70
Type 1 Plasminogen Deficiency 48
Ligneous Congunctivitis 24
Plasminogen Deficiency 70
Conjunctivitis Lignosa 54
Plgd 70

Characteristics:

Orphanet epidemiological data:

54
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:

64
plasminogen deficiency, type i:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 217090
UMLS via Orphanet69 C0398621, C1274789
ICD10 via Orphanet31 L90.5, H10.4
MeSH39 D003231

Summaries for Plasminogen Deficiency, Type I

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OMIM:52 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 Array, Array and Array. An important gene associated with Plasminogen Deficiency, Type I is PLG (Plasminogen), and among its related pathways are Degradation of the extracellular matrix and Matrix Metalloproteinases. Affiliated tissues include eye, trachea and ovary, and related mouse phenotype neoplasm.

NIH Rare Diseases:48 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:70 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

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

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1ligneous conjunctivitis12.5
2congenital plasminogen deficiency11.4
3conjunctivitis10.6
4hydrocephalus10.0
5thrombosis9.9
6sydenham chorea9.8ELANE, PLG
7mental retardation, autosomal recessive 289.7ELANE, PLG
8aplastic anemia9.7
9paroxysmal nocturnal hemoglobinuria9.7
10choroiditis9.7
11hemolytic-uremic syndrome9.7
12retinitis9.7
13protein c deficiency9.7
14hemoglobinuria9.7
15pulmonary embolism9.7
16coats disease9.7

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



Diseases related to plasminogen deficiency, type i

Symptoms & Phenotypes for Plasminogen Deficiency, Type I

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Symptoms by clinical synopsis from OMIM:

217090

Clinical features from OMIM:

217090

Human phenotypes related to Plasminogen Deficiency, Type I:

 54 64 (show all 43)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the ovary64 54 Occasional (29-5%) HP:0000137
2 gingival overgrowth64 54 Frequent (79-30%) HP:0000212
3 gingivitis64 54 Frequent (79-30%) HP:0000230
4 hydrocephalus64 54 Occasional (29-5%) HP:0000238
5 abnormality of the middle ear64 54 Occasional (29-5%) HP:0000370
6 abnormality of the eye54 Very frequent (99-80%)
7 abnormality of vision64 54 Very frequent (99-80%) HP:0000504
8 periodontitis64 54 Occasional (29-5%) HP:0000704
9 nephrolithiasis64 54 Occasional (29-5%) HP:0000787
10 abnormality of the skin64 54 Occasional (29-5%) HP:0000951
11 dandy-walker malformation64 54 Occasional (29-5%) HP:0001305
12 abnormality of the respiratory system64 54 Occasional (29-5%) HP:0002086
13 duodenal ulcer64 54 Occasional (29-5%) HP:0002588
14 abnormality of the fallopian tube64 54 Occasional (29-5%) HP:0011027
15 cervicitis64 54 Occasional (29-5%) HP:0030160
16 nephritis64 54 Occasional (29-5%) HP:0000123
17 macrocephaly64 54 Very frequent (99-80%) HP:0000256
18 recurrent otitis media54 Frequent (79-30%)
19 conjunctivitis64 54 Very frequent (99-80%) HP:0000509
20 blindness64 54 Occasional (29-5%) HP:0000618
21 global developmental delay54 Very frequent (99-80%)
22 poor wound healing54 Very frequent (99-80%)
23 keratoconjunctivitis54 Frequent (79-30%)
24 cerebellar hypoplasia64 54 Very frequent (99-80%) HP:0001321
25 abnormality of the larynx64 54 Frequent (79-30%) HP:0001600
26 recurrent upper respiratory tract infections64 54 Frequent (79-30%) HP:0002788
27 recurrent bronchitis54 Frequent (79-30%)
28 gastrointestinal inflammation54 Frequent (79-30%)
29 abnormality of the gallbladder54 Occasional (29-5%)
30 premature loss of teeth54 Frequent (79-30%)
31 recurrent pneumonia54 Frequent (79-30%)
32 hyperreflexia54 Occasional (29-5%)
33 chronic irritative conjunctivitis54 Very frequent (99-80%)
34 increased lacrimation54 Very frequent (99-80%)
35 stomatitis54 Frequent (79-30%)
36 abnormality of fontanelles54 Occasional (29-5%)
37 vaginitis54 Occasional (29-5%)
38 abnormality of the mediastinum54 Occasional (29-5%)
39 hypercoagulability54 Excluded (0%)
40 recurrent pharyngitis54 Frequent (79-30%)
41 papule54 Occasional (29-5%)
42 abnormality of the ear64 HP:0000598
43 abnormality of metabolism/homeostasis64 HP:0001939

MGI Mouse Phenotypes related to Plasminogen Deficiency, Type I according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1ELANE, PLG

Drugs & Therapeutics for Plasminogen Deficiency, Type I

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

(show all 21)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Nitric OxideapprovedPhase 461710102-43-9145068
Synonyms:
(.)NO
(NO)(.)
10102-43-9
14332-28-6
295566_ALDRICH
51005-20-0
51005-21-1
53851-19-7
90452-29-2
AC1L1ADQ
AC1L3QHF
AC1Q6QZ0
AR-1K7463
Bioxyde d'azote
Bioxyde d'azote [French]
C00533
CCRIS 4319
CHEMBL1200689
CHEMBL1234765
CID145068
CID945
D00074
D009569
DB00435
EDRF
EINECS 233-271-0
Endogenous Nitrate Vasodilator
Endothelium-Derived Nitric Oxide
HNO
HSDB 1246
INOmax
INOmax (TN)
LS-192158
LS-7547
MolPort-003-929-452
Mononitrogen monoxide
Monoxide, Mononitrogen
Monoxide, Nitrogen
Monoxido de nitrogeno
Monoxyde d'azote
NITRIC-OXIDE
NO
NO(.)
Nitrate Vasodilator, Endogenous
Nitric Oxide, Endothelium Derived
 
Nitric Oxide, Endothelium-Derived
Nitric oxide
Nitric oxide (JAN)
Nitric oxide 10% by volume or more
Nitric oxide trimer
Nitric oxide, compressed [UN1660] [Poison gas]
Nitric oxide, compressed [UN1660] [Poison gas]
Nitrogen monoxide
Nitrogen oxide
Nitrogen oxide (NO)
Nitrogen protoxide
Nitrosyl
Nitrosyl hydride
Nitrosyl hydride ((NO)H)
Nitrosyl radical
Nitroxide radical
Nitroxyl
OHM 11771
Oxide, Nitric
Oxido de nitrogeno(ii)
Oxido nitrico
Oxyde azotique
Oxyde nitrique
Oxyde nitrique [French]
RCRA waste no. P076
Stickmonoxyd
Stickmonoxyd [German]
Stickstoff(II)-oxid
Stickstoff(ii)-oxid
Stickstoffmonoxid
UN 1660
UN1660
UNII-31C4KY9ESH
Vasodilator, Endogenous Nitrate
[NO]
endothelium-derived relaxing factor
monoxido de nitrogeno
monoxyde d'azote
nitric oxide
nitrogen monooxide
nitrogen monoxide
nitrosyl
oxido de nitrogeno(II)
oxido nitrico
oxidonitrogen(.)
oxoazanyl
oxyde azotique
2
Acetylcysteineapproved, investigationalPhase 4330616-91-112035
Synonyms:
(2R)-2-acetylamino-3-sulfanylpropanoic acid
(R)-2-acetylamino-3-mercaptopropanoic acid
(R)-mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
Fluprowit
 
L-Acetylcysteine
L-acetylcysteine
L-α-acetamido-β-mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetyl-L-(+)-cysteine
N-acetyl-L-cysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
3N-monoacetylcystinePhase 4330
4Neurotransmitter AgentsPhase 418340
5Peripheral Nervous System AgentsPhase 423689
6Vasodilator AgentsPhase 43543
7Respiratory System AgentsPhase 44997
8Protective AgentsPhase 47443
9Endothelium-Dependent Relaxing FactorsPhase 4281
10ExpectorantsPhase 4404
11Bronchodilator AgentsPhase 42965
12AntidotesPhase 41071
13Anti-Asthmatic AgentsPhase 43488
14AntioxidantsPhase 43050
15Anti-Infective AgentsPhase 422062
16Antiviral AgentsPhase 49967
17Autonomic AgentsPhase 410150
18arginineNutraceuticalPhase 4425
19
Coal tarapprovedPhase 2, Phase 32028007-45-2
Synonyms:
 
Coal tars
Tar, coal
20PlasminogenPhase 2, Phase 3, Phase 1242
21Fibrinolytic AgentsPhase 2, Phase 3, Phase 12388

Interventional clinical trials:

idNameStatusNCT IDPhase
1N-Acetylcysteine and Arginine Administration in Diabetic PatientsTerminatedNCT00569465Phase 4
2A Study of ProMetic Plasminogen IV Infusion in Subjects With HypoplasminogenemiaEnrolling by invitationNCT02690714Phase 2, Phase 3
3A Phase 1 Study of ProMetic Plasminogen (Human) Intravenous in Adults and Children With Plasminogen DeficiencyCompletedNCT02312180Phase 1
4Evaluating an Exercise Program to Reduce Cardiovascular Risk Factors in Children Infected With HIVCompletedNCT00908284

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Genetic Tests for Plasminogen Deficiency, Type I

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Genetic tests related to Plasminogen Deficiency, Type I:

id Genetic test Affiliating Genes
1 Plasminogen Deficiency, Type I27
2 Plasminogen Deficiency Type 124 PLG

Anatomical Context for Plasminogen Deficiency, Type I

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

36
Eye, Trachea, Ovary, Skin, Bone

Publications for Plasminogen Deficiency, Type I

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Articles related to Plasminogen Deficiency, Type I:

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

Variations for Plasminogen Deficiency, Type I

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

70
id Symbol AA change Variation ID SNP ID
1PLGp.Val374PheVAR_006627rs121918028
2PLGp.Ser591ProVAR_006628rs121918029
3PLGp.Ala620ThrVAR_006629rs121918027
4PLGp.Gly751ArgVAR_006630rs121918033
5PLGp.Lys38GluVAR_018657rs73015965
6PLGp.Leu147ProVAR_018658rs770198253
7PLGp.Arg235HisVAR_018659rs121918030
8PLGp.Arg532HisVAR_018660

Clinvar genetic disease variations for Plasminogen Deficiency, Type I:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PLGNM_ 000301.3(PLG): c.704G> A (p.Arg235His)SNVPathogenicrs121918030GRCh37Chr 6, 161137712: 161137712
2PLGNM_ 000301.3(PLG): c.1848G> A (p.Trp616Ter)SNVPathogenicrs121918031GRCh37Chr 6, 161159615: 161159615
3PLGNM_ 000301.3(PLG): c.1435G> T (p.Glu479Ter)SNVPathogenicrs121918032GRCh37Chr 6, 161152261: 161152261
4PLGNM_ 000301.3(PLG): c.691_ 693delAAG (p.Lys231del)deletionPathogenicrs121918034GRCh37Chr 6, 161137699: 161137701
5PLGNM_ 000301.3(PLG): c.2125+1delGdeletionPathogenicrs606231210GRCh38Chr 6, 160741418: 160741418
6PLGNM_ 000301.3(PLG): c.112A> G (p.Lys38Glu)SNVPathogenicrs73015965GRCh37Chr 6, 161127501: 161127501
7PLGNM_ 000301.3(PLG): c.185+1G> TSNVPathogenicrs886042477GRCh37Chr 6, 161127575: 161127575

Expression for genes affiliated with Plasminogen Deficiency, Type I

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

Pathways for genes affiliated with Plasminogen Deficiency, Type I

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1ELANE, PLG
2
Show member pathways
9.1ELANE, PLG
39.1ELANE, PLG
49.1ELANE, PLG

GO Terms for genes affiliated with Plasminogen Deficiency, Type I

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

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:00099869.1ELANE, PLG

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix disassemblyGO:00226179.8ELANE, PLG
2proteolysisGO:00065089.1ELANE, PLG

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

idNameGO IDScoreTop Affiliating Genes
1endopeptidase activityGO:00041759.8ELANE, PLG
2peptidase activityGO:00082339.8ELANE, PLG
3serine-type endopeptidase activityGO:00042529.7ELANE, PLG
4serine-type peptidase activityGO:00082369.1ELANE, PLG

Sources for Plasminogen Deficiency, Type I

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet