MCID: PLS030
MIFTS: 35

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:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 67UMLS via Orphanet, 29ICD10 via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Plasminogen Deficiency, Type I:

Name: Plasminogen Deficiency, Type I 50 66
Hypoplasminogenemia 46 52 68 66
Conjunctivitis, Ligneous 23 12 48
Dysplasminogenemia 50 23 68
Plasminogen Deficiency Type 1 23 52
Plasminogen Deficiency Type I 68 25
Ligneous Conjunctivitis 52 68
 
Plasminogen Deficiency, Type I Ligneous Conjunctivitis, Included 50
Plasminogen Deficiency Type Ii 68
Type 1 Plasminogen Deficiency 46
Ligneous Congunctivitis 23
Plasminogen Deficiency 68
Conjunctivitis Lignosa 52
Plgd 68

Characteristics:

Orphanet epidemiological data:

52
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:

62
plasminogen deficiency, type i:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 217090
UMLS via Orphanet67 C0398621, C1274789
ICD10 via Orphanet29 L90.5, H10.4
MeSH37 D003231

Summaries for Plasminogen Deficiency, Type I

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OMIM:50 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). Affiliated tissues include eye, trachea and ovary.

NIH Rare Diseases:46 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:68 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 12)
idRelated DiseaseScoreTop Affiliating Genes
1ligneous conjunctivitis11.5
2congenital plasminogen deficiency11.5
3conjunctivitis10.0
4aplastic anemia9.8
5paroxysmal nocturnal hemoglobinuria9.8
6choroiditis9.8
7hemolytic-uremic syndrome9.8
8retinitis9.8
9protein c deficiency9.8
10hemoglobinuria9.8
11pulmonary embolism9.8
12coats disease9.8

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

Symptoms:

 52 (show all 41)
  • abnormality of the ovary
  • gingival overgrowth
  • gingivitis
  • hydrocephalus
  • abnormality of the middle ear
  • abnormality of the eye
  • abnormality of vision
  • periodontitis
  • nephrolithiasis
  • abnormality of the skin
  • dandy-walker malformation
  • abnormality of the respiratory system
  • duodenal ulcer
  • abnormality of the fallopian tube
  • cervicitis
  • nephritis
  • macrocephaly
  • recurrent otitis media
  • conjunctivitis
  • blindness
  • global developmental delay
  • poor wound healing
  • keratoconjunctivitis
  • cerebellar hypoplasia
  • abnormality of the larynx
  • recurrent upper respiratory tract infections
  • recurrent bronchitis
  • gastrointestinal inflammation
  • abnormality of the gallbladder
  • premature loss of teeth
  • recurrent pneumonia
  • hyperreflexia
  • chronic irritative conjunctivitis
  • increased lacrimation
  • stomatitis
  • abnormality of fontanelles
  • vaginitis
  • abnormality of the mediastinum
  • hypercoagulability
  • recurrent pharyngitis
  • papule

HPO human phenotypes related to Plasminogen Deficiency, Type I:

(show all 27)
id Description Frequency HPO Source Accession
1 abnormality of the eye hallmark (90%) HP:0000478
2 abnormality of the oral cavity typical (50%) HP:0000163
3 polycystic ovaries occasional (7.5%) HP:0000147
4 hydrocephalus occasional (7.5%) HP:0000238
5 abnormality of the middle ear occasional (7.5%) HP:0000370
6 nephrolithiasis occasional (7.5%) HP:0000787
7 dandy-walker malformation occasional (7.5%) HP:0001305
8 abnormality of the respiratory system occasional (7.5%) HP:0002086
9 abnormality of the intestine occasional (7.5%) HP:0002242
10 nephritis rare (5%) HP:0000123
11 gingival overgrowth HP:0000212
12 gingivitis HP:0000230
13 hydrocephalus HP:0000238
14 macrocephaly HP:0000256
15 conjunctivitis HP:0000509
16 abnormality of the ear HP:0000598
17 blindness HP:0000618
18 periodontitis HP:0000704
19 nephrolithiasis HP:0000787
20 abnormality of the skin HP:0000951
21 dandy-walker malformation HP:0001305
22 cerebellar hypoplasia HP:0001321
23 abnormality of the larynx HP:0001600
24 abnormality of the cardiovascular system HP:0001626
25 abnormality of metabolism/homeostasis HP:0001939
26 duodenal ulcer HP:0002588
27 recurrent upper respiratory tract infections HP:0002788

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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcysteinePhase 4304616-91-112035
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
2
Nitric OxidePhase 458510102-43-9145068
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
3arginineNutraceuticalPhase 4393

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

Search NIH Clinical Center for Plasminogen Deficiency, Type I

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 I25
2 Plasminogen Deficiency Type 123 PLG

Anatomical Context for Plasminogen Deficiency, Type I

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

34
Eye, Trachea, Ovary, Skin, Bone

Animal Models for Plasminogen Deficiency, Type I or affiliated genes

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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:

68
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_018658
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)single nucleotide variantPathogenicrs121918030GRCh37Chr 6, 161137712: 161137712
2PLGNM_000301.3(PLG): c.1848G> A (p.Trp616Ter)single nucleotide variantPathogenicrs121918031GRCh37Chr 6, 161159615: 161159615
3PLGNM_000301.3(PLG): c.1435G> T (p.Glu479Ter)single nucleotide variantPathogenicrs121918032GRCh37Chr 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)single nucleotide variantPathogenicrs73015965GRCh37Chr 6, 161127501: 161127501

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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GO Terms for genes affiliated with Plasminogen Deficiency, Type I

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Sources for Plasminogen Deficiency, Type I

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet