MCID: PLS030
MIFTS: 42

Plasminogen Deficiency, Type I malady

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Plasminogen Deficiency, Type I

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Aliases & Descriptions for Plasminogen Deficiency, Type I:

Name: Plasminogen Deficiency, Type I 49 65
Hypoplasminogenemia 45 51 67 65
Dysplasminogenemia 49 22 67
Plasminogen Deficiency Type I 67 24
Plasminogen Deficiency Type 1 22 51
Conjunctivitis, Ligneous 22 47
 
Ligneous Conjunctivitis 67 65
Plasminogen Deficiency Type Ii 67
Type 1 Plasminogen Deficiency 45
Ligneous Congunctivitis 22
Plasminogen Deficiency 67
Plgd 67

Characteristics:

Orphanet epidemiological data:

51
hypoplasminogenemia:
Inheritance: Autosomal recessive,Not applicable; Age of onset: All ages

HPO:

61
plasminogen deficiency, type i:
Onset and clinical course: infantile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 217090
Orphanet51 722
UMLS via Orphanet66 C0398621
MeSH36 D003231
UMLS65 C1968804, C0398621, C1274789

Summaries for Plasminogen Deficiency, Type I

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OMIM:49 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 abnormality of the intestine. 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 skin, and related mouse phenotype tumorigenesis.

NIH Rare Diseases:45 Type 1 plasminogen deficiency is a genetic condition associated with chronic lesions in the pseudomembrane (tough, thick material) of the mucosa of the eye, mouth, nasopharynx, trachea, and female genital tract; decreased serum plasminogen activity; and decreased plasminogen antigen level. the lesions may be triggered by local injury and/or infection and often recur after removal of the lesion; they are caused by the deposition of fibrin (a protein involved in blood clotting) and by inflammation. the most common clinical finding is ligenous ('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. hydrocephalus may be present at birth in a small number of individuals.   last updated: 12/9/2008

UniProtKB/Swiss-Prot:67 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 15)
idRelated DiseaseScoreTop Affiliating Genes
1ligneous conjunctivitis12.5
2congenital plasminogen deficiency11.4
3conjunctivitis10.8
4hydrocephalus10.1
5aplastic anemia9.8
6paroxysmal nocturnal hemoglobinuria9.8
7choroiditis9.8
8hemolytic-uremic syndrome9.8
9retinitis9.8
10protein c deficiency9.8
11hemoglobinuria9.8
12pulmonary embolism9.8
13coats disease9.8
14vitamin k deficiency hemorrhagic disease9.5ELANE, PLG
15deafness, autosomal recessive 389.3ELANE, 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

Symptoms:

 51 (show all 11)
  • anomalies of eyes and vision
  • anomalies of tongue, gingiva and oral mucosa
  • structural anomalies of middle ear/ossicles/tympanic cavity
  • anomalies of skin, subcutaneous tissue and mucosae
  • intestinal/colonic anomaly
  • structural anomalies of the respiratory system and diaphragm
  • urinary/renal lithiasis/kidney stones/nephritic colic
  • uterine/uterus/fallopian tubes anomalies
  • abnormal/polycystic ovaries
  • hydrocephaly
  • dandy-walker anomaly

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

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 13)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcysteineapprovedPhase 4293616-91-112035
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 OxideapprovedPhase 456410102-43-9145068
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)
Inomax
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
3AntioxidantsPhase 42442
4Protective AgentsPhase 45651
5Respiratory System AgentsPhase 43931
6Anti-Infective AgentsPhase 417220
7N-monoacetylcystinePhase 4293
8ExpectorantsPhase 4337
9Antiviral AgentsPhase 48071
10arginineNutraceuticalPhase 4364
11Fibrinolytic AgentsPhase 2, Phase 3, Phase 11567
12PlasminogenPhase 2, Phase 3, Phase 1198
13Coal TarPhase 2, Phase 3165

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 122 PLG

Anatomical Context for Plasminogen Deficiency, Type I

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

33
Eye, Trachea, Skin, Ovary, Bone, Tongue, B cells

Animal Models for Plasminogen Deficiency, Type I or affiliated genes

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MGI Mouse Phenotypes related to Plasminogen Deficiency, Type I:

38
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:

67
id Symbol AA change Variation ID SNP ID
1PLGp.Val374PheVAR_006627rs121918028
2PLGp.Ser591ProVAR_006628
3PLGp.Ala620ThrVAR_006629rs121918027
4PLGp.Gly751ArgVAR_006630
5PLGp.Lys38GluVAR_018657rs73015965
6PLGp.Leu147ProVAR_018658
7PLGp.Arg235HisVAR_018659
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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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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Biological processes related to Plasminogen Deficiency, Type I according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1proteolysisGO:00065089.1ELANE, PLG

Sources for Plasminogen Deficiency, Type I

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet