MCID: PLS030
MIFTS: 44

Plasminogen Deficiency, Type I malady

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

Aliases & Classifications for Plasminogen Deficiency, Type I

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Sources:
12diseasecard, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Plasminogen Deficiency, Type I:

Name: Plasminogen Deficiency, Type I 51 67
Hypoplasminogenemia 47 53 69 67
Conjunctivitis, Ligneous 24 12 49
Ligneous Conjunctivitis 53 69 67
Dysplasminogenemia 51 24 69
Plasminogen Deficiency Type 1 24 53
Plasminogen Deficiency Type I 69 26
 
Plasminogen Deficiency, Type I Ligneous Conjunctivitis, Included 51
Plasminogen Deficiency Type Ii 69
Type 1 Plasminogen Deficiency 47
Ligneous Congunctivitis 24
Plasminogen Deficiency 69
Conjunctivitis Lignosa 53
Plgd 69

Characteristics:

Orphanet epidemiological data:

53
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:

63
plasminogen deficiency, type i:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM51 217090
UMLS via Orphanet68 C0398621, C1274789
ICD10 via Orphanet30 L90.5, H10.4
MeSH38 D003231

Summaries for Plasminogen Deficiency, Type I

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OMIM:51 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 abnormality of the eye, abnormality of the oral cavity and polycystic ovaries. 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:47 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:69 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 14)
idRelated DiseaseScoreTop Affiliating Genes
1ligneous conjunctivitis12.5
2congenital plasminogen deficiency11.4
3conjunctivitis10.6
4hydrocephalus10.0
5aplastic anemia9.7
6paroxysmal nocturnal hemoglobinuria9.7
7choroiditis9.7
8hemolytic-uremic syndrome9.7
9retinitis9.7
10protein c deficiency9.7
11hemoglobinuria9.7
12pulmonary embolism9.7
13coats disease9.7
14microcytic anemia9.5ELANE, PLG

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



Diseases related to plasminogen deficiency, type i

Symptoms 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:

 63 53 (show all 47)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the eye63 53 hallmark (90%) Very frequent (99-80%) HP:0000478
2 abnormality of the oral cavity63 typical (50%) HP:0000163
3 polycystic ovaries63 occasional (7.5%) HP:0000147
4 hydrocephalus63 53 occasional (7.5%) Occasional (29-5%) HP:0000238
5 abnormality of the middle ear63 53 occasional (7.5%) Occasional (29-5%) HP:0000370
6 nephrolithiasis63 53 occasional (7.5%) Occasional (29-5%) HP:0000787
7 dandy-walker malformation63 53 occasional (7.5%) Occasional (29-5%) HP:0001305
8 abnormality of the respiratory system63 53 occasional (7.5%) Occasional (29-5%) HP:0002086
9 abnormality of the intestine63 occasional (7.5%) HP:0002242
10 nephritis63 53 rare (5%) Occasional (29-5%) HP:0000123
11 gingival overgrowth63 53 Frequent (79-30%) HP:0000212
12 gingivitis63 53 Frequent (79-30%) HP:0000230
13 macrocephaly63 53 Very frequent (99-80%) HP:0000256
14 conjunctivitis63 53 Very frequent (99-80%) HP:0000509
15 abnormality of the ear63 HP:0000598
16 blindness63 53 Occasional (29-5%) HP:0000618
17 periodontitis63 53 Occasional (29-5%) HP:0000704
18 abnormality of the skin63 53 Occasional (29-5%) HP:0000951
19 cerebellar hypoplasia63 53 Very frequent (99-80%) HP:0001321
20 abnormality of the larynx63 53 Frequent (79-30%) HP:0001600
21 abnormality of the cardiovascular system63 HP:0001626
22 abnormality of metabolism/homeostasis63 HP:0001939
23 duodenal ulcer63 53 Occasional (29-5%) HP:0002588
24 recurrent upper respiratory tract infections63 53 Frequent (79-30%) HP:0002788
25 abnormality of the ovary53 Occasional (29-5%)
26 abnormality of vision53 Very frequent (99-80%)
27 abnormality of the fallopian tube53 Occasional (29-5%)
28 cervicitis53 Occasional (29-5%)
29 recurrent otitis media53 Frequent (79-30%)
30 global developmental delay53 Very frequent (99-80%)
31 poor wound healing53 Very frequent (99-80%)
32 keratoconjunctivitis53 Frequent (79-30%)
33 recurrent bronchitis53 Frequent (79-30%)
34 gastrointestinal inflammation53 Frequent (79-30%)
35 abnormality of the gallbladder53 Occasional (29-5%)
36 premature loss of teeth53 Frequent (79-30%)
37 recurrent pneumonia53 Frequent (79-30%)
38 hyperreflexia53 Occasional (29-5%)
39 chronic irritative conjunctivitis53 Very frequent (99-80%)
40 increased lacrimation53 Very frequent (99-80%)
41 stomatitis53 Frequent (79-30%)
42 abnormality of fontanelles53 Occasional (29-5%)
43 vaginitis53 Occasional (29-5%)
44 abnormality of the mediastinum53 Occasional (29-5%)
45 hypercoagulability53 Excluded (0%)
46 recurrent pharyngitis53 Frequent (79-30%)
47 papule53 Occasional (29-5%)

UMLS symptoms related to Plasminogen Deficiency, Type I:


conjunctival hyperemia

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 459910102-43-9145068
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
AcetylcysteineapprovedPhase 4316616-91-112035
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-alpha-acetamido-beta-Mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
3N-monoacetylcystinePhase 4316
4Neurotransmitter AgentsPhase 417734
5Peripheral Nervous System AgentsPhase 422776
6Vasodilator AgentsPhase 43438
7Respiratory System AgentsPhase 44818
8Protective AgentsPhase 47190
9Endothelium-Dependent Relaxing FactorsPhase 4272
10ExpectorantsPhase 4388
11Bronchodilator AgentsPhase 42856
12AntidotesPhase 41038
13Anti-Asthmatic AgentsPhase 43369
14AntioxidantsPhase 42928
15Anti-Infective AgentsPhase 421402
16Antiviral AgentsPhase 49732
17Autonomic AgentsPhase 49774
18arginineNutraceuticalPhase 4408
19
Coal tarapprovedPhase 2, Phase 31918007-45-2
Synonyms:
 
Coal tars
Tar, coal
20PlasminogenPhase 2, Phase 3, Phase 1236
21Fibrinolytic AgentsPhase 2, Phase 3, Phase 12317

Interventional clinical trials:

idNameStatusNCT IDPhase
1N-Acetylcysteine and Arginine Administration in Diabetic PatientsTerminatedNCT00569465Phase 4
2A Study of ProMetic Plasminogen IV Infusion in Subjects With HypoplasminogenemiaRecruitingNCT02690714Phase 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 I26
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:

35
Eye, Trachea, Ovary, Skin, Bone

Animal Models for Plasminogen Deficiency, Type I or affiliated genes

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MGI Mouse Phenotypes related to Plasminogen Deficiency, Type I:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1ELANE, PLG

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:

69
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:00226179.5ELANE, PLG
2proteolysisGO:00065089.1ELANE, PLG

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

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:00042529.1ELANE, PLG

Sources for Plasminogen Deficiency, Type I

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet