PLGD
MCID: PLS030
MIFTS: 52

Plasminogen Deficiency, Type I (PLGD)

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

Aliases & Classifications for Plasminogen Deficiency, Type I

MalaCards integrated aliases for Plasminogen Deficiency, Type I:

Name: Plasminogen Deficiency, Type I 57 29 6 44 70
Hypoplasminogenemia 12 20 58 72 70
Dysplasminogenemia 57 72 29 6
Plasminogen Deficiency Type I 12 72 15
Ligneous Conjunctivitis 72 70
Plasminogen Deficiency 72 36
Congenital Plasminogen Deficiency 44
Deficiency, Plasminogen, Type I 39
Plasminogen Deficiency Type Ii 72
Type 1 Plasminogen Deficiency 20
Plasminogen Deficiency Type 1 58
Plgd 72

Characteristics:

Orphanet epidemiological data:

58
hypoplasminogenemia
Inheritance: Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset usually in infancy or early childhood
adult onset of symptoms has been reported
slightly increased female:male ratio (1.4:1 to 2:1)
pseudomembrane formation triggered by injury, infection, irritation, surgery
estimated prevalence of 1.6 in 1,000,000 individuals in the u.k.
increased prevalence in individuals of turkish descent


HPO:

31
plasminogen deficiency, type i:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare eye diseases
Rare systemic and rhumatological diseases


External Ids:

Disease Ontology 12 DOID:0111592
OMIM® 57 217090
KEGG 36 H01206
SNOMED-CT 67 95840007 95844003
ICD10 32 E88.02
ICD10 via Orphanet 33 L90.5
UMLS via Orphanet 71 C0398621 C1968804
Orphanet 58 ORPHA722
UMLS 70 C0398621 C1274789 C1968804

Summaries for Plasminogen Deficiency, Type I

OMIM® : 57 Congenital plasminogen deficiency is a rare autosomal recessive disorder characterized clinically by chronic mucosal pseudomembranous lesions consisting of subepithelial fibrin deposition and inflammation. The most common clinical manifestation is ligneous ('wood-like') conjunctivitis, a redness and subsequent formation of pseudomembranes mostly on the palpebral surfaces of the eye that progress to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa. The lesions may be triggered by local injury and/or infection and often recur after local excision. Pseudomembranous lesions of other mucous membranes often occur in the mouth, nasopharynx, trachea, and female genital tract. Some affected children also have congenital occlusive hydrocephalus. A slightly increased female:male ratio has been observed (1.4:1 to 2:1) (Schuster and Seregard, 2003; Tefs et al., 2006). Type I plasminogen deficiency is characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and clinical symptoms, whereas type II plasminogen deficiency, also known as 'dysplasminogenemia,' is characterized by decreased plasminogen activity with normal or slightly reduced antigen levels. Patients with type II deficiency are usually asymptomatic. Ligneous conjunctivitis and pseudomembranous formation has only been associated with type I plasminogen deficiency. Presumably, normal amounts of plasminogen antigen with decreased activity, as seen in type II, is sufficient for normal wound healing (Schuster and Seregard, 2003). (217090) (Updated 20-May-2021)

MalaCards based summary : Plasminogen Deficiency, Type I, also known as hypoplasminogenemia, is related to ligneous conjunctivitis and thrombophlebitis. An important gene associated with Plasminogen Deficiency, Type I is PLG (Plasminogen), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Complement and coagulation cascades. The drugs Ophthalmic Solutions and Fibrinolytic Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, trachea and ovary, and related phenotypes are abnormality of vision and decreased level of plasminogen

Disease Ontology : 12 A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has material basis in homozygous or compound heterozygous mutation in PLG on chromosome 6q26.

GARD : 20 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.

KEGG : 36 Plasminogen deficiency is characterized by decreased serum plasminogen activity. Two forms of the disorder are distinguished. Type 1, also called hypoplasminogenemia, is associated with pseudomembrane disease. Ligneous conjunctivitis is the most common of the clinical syndromes associated with plasminogen deficiency, although numerous other organs have been reported to be affected. Type 2, also known as dysplasminogenemia, is characterized by normal, or slightly reduced antigen levels, and absence of clinical manifestations.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Plasmin is an important enzyme (EC 3.4.21.7) present in blood that degrades many blood plasma proteins,... more...

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 top 50) (show all 159)
# Related Disease Score Top Affiliating Genes
1 ligneous conjunctivitis 30.6 PLG PLAT
2 thrombophlebitis 29.6 SERPINF2 PLG PLAT
3 thrombophilia 29.5 SERPINF2 PLAT HRG
4 pulmonary embolism 29.5 SERPINF2 PLAT
5 stroke, ischemic 29.2 SERPINF2 PLG PLAT
6 thrombosis 29.0 SERPINF2 PLG PLAT HRG
7 congenital plasminogen deficiency 11.3
8 pseudomembranous conjunctivitis 10.4
9 congenital hydrocephalus 10.4
10 conjunctivitis 10.3
11 yemenite deaf-blind hypopigmentation syndrome 10.2
12 autosomal recessive disease 10.2
13 strabismus 10.2
14 otitis media 10.2
15 ptosis 10.2
16 mechanical strabismus 10.2
17 basal ganglia cerebrovascular disease 10.1 PLG PLAT
18 cerebral falx meningioma 10.1 PLG PLAT
19 basilar artery insufficiency 10.1 PLG PLAT
20 basilar artery occlusion 10.1 PLG PLAT
21 acute pulmonary heart disease 10.1 PLG PLAT
22 acute cor pulmonale 10.1 PLG PLAT
23 posterior cerebral artery infarction 10.1 PLG PLAT
24 livedoid vasculitis 10.1 SERPINF2 PLG
25 brain stem infarction 10.1 PLG PLAT
26 vertebral artery occlusion 10.1 PLG PLAT
27 inferior myocardial infarction 10.1 PLG PLAT
28 septicemic plague 10.1 SERPINF2 PLG
29 conversion disorder 10.1 PLG PLAT
30 anterior cerebral artery infarction 10.1 PLG PLAT
31 hereditary angioedema 10.1 PLG PLAT
32 hereditary angioedema with normal c1inh 10.1 PLG PLAT
33 angioedema 10.1 PLG PLAT
34 central retinal artery occlusion 10.1 PLG PLAT
35 pneumonic plague 10.1 SERPINF2 PLG
36 alpha-2-plasmin inhibitor deficiency 10.1 SERPINF2 PLG
37 middle cerebral artery infarction 10.1 PLG PLAT
38 occlusion precerebral artery 10.1 PLG PLAT
39 carotid artery thrombosis 10.1 PLG PLAT
40 cardiac tamponade 10.0 PLG PLAT
41 bubonic plague 10.0 SERPINF2 PLG
42 plasminogen activator inhibitor-1 deficiency 10.0 SERPINF2 PLAT
43 post-thrombotic syndrome 10.0 PLG PLAT
44 platelet aggregation, spontaneous 10.0 SERPINF2 PLAT
45 intracranial thrombosis 10.0 PLG PLAT
46 acute poststreptococcal glomerulonephritis 10.0 SERPINF2 PLG
47 dandy-walker syndrome 10.0
48 factor xii deficiency 10.0
49 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.0
50 familial mediterranean fever 10.0

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

Human phenotypes related to Plasminogen Deficiency, Type I:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of vision 58 31 hallmark (90%) Very frequent (99-80%) HP:0000504
2 decreased level of plasminogen 58 31 hallmark (90%) Very frequent (99-80%) HP:0040228
3 gingival overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0000212
4 gingivitis 58 31 frequent (33%) Frequent (79-30%) HP:0000230
5 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
6 abnormality of the ovary 58 31 occasional (7.5%) Occasional (29-5%) HP:0000137
7 dandy-walker malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001305
8 periodontitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000704
9 nephrolithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000787
10 abnormality of the respiratory system 58 31 occasional (7.5%) Occasional (29-5%) HP:0002086
11 abnormality of the middle ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000370
12 abnormality of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000951
13 duodenal ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0002588
14 cervicitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0030160
15 nephritis 31 occasional (7.5%) HP:0000123
16 abnormal fallopian tube morphology 31 occasional (7.5%) HP:0011027
17 macrocephaly 31 HP:0000256
18 blindness 31 HP:0000618
19 recurrent upper respiratory tract infections 31 HP:0002788
20 abnormality of the eye 58 Very frequent (99-80%)
21 conjunctivitis 31 HP:0000509
22 cerebellar hypoplasia 31 HP:0001321
23 abnormality of metabolism/homeostasis 31 HP:0001939
24 abnormality of the larynx 31 HP:0001600
25 abnormality of the ear 31 HP:0000598
26 abnormality of the fallopian tube 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
macrocephaly

Neurologic Central Nervous System:
dandy-walker malformation
cerebellar hypoplasia
occlusive hydrocephalus, congenital

Abdomen Gastrointestinal:
duodenal ulcer
pseudomembranous inflammation of the gastrointestinal mucosa

Genitourinary Kidneys:
renal calculi (rare)
pseudomembranous, calcified plaques in the renal collecting system (rare)
acute nephritis (rare)

Respiratory:
upper respiratory tract infections
pseudomembranous inflammation of the sinuses

Cardiovascular Vascular:
no increased risk of thrombotic vascular events

Respiratory Larynx:
pseudomembranous inflammation of the larynx

Genitourinary Internal Genitalia Female:
pseudomembranous inflammation of the vaginal mucosa or cervix

Laboratory Abnormalities:
decreased plasminogen antigen
decreased plasminogen activity
subepithelial fibrin deposition with inflammation (pseudomembranous inflammation) of mucosal tissues

Head And Neck Eyes:
visual impairment
blindness
ligneous conjunctivitis
chronic tearing
redness of the conjunctivae
more
Head And Neck Mouth:
periodontitis
gingival hyperplasia
ligneous gingivitis
pseudomembranous inflammation of the oral mucosa

Respiratory Airways:
airway obstruction
pseudomembranous inflammation of the bronchi

Head And Neck Teeth:
tooth loss
gingivitis, severe

Head And Neck Ears:
pseudomembranous inflammation of the middle ear

Respiratory Nasopharynx:
pseudomembranous inflammation of the nasopharynx

Respiratory Lung:
pseudomembranous inflammation of the lung

Skin Nails Hair Skin:
juvenile colloid milium
small papules on sun-exposed areas

Clinical features from OMIM®:

217090 (Updated 20-May-2021)

Drugs & Therapeutics for Plasminogen Deficiency, Type I

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ophthalmic Solutions Phase 3
2 Fibrinolytic Agents
3 Plasminogen

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Historically Controlled Phase II/III Study to Evaluate Efficacy and Safety of Kedrion Human Plasminogen Eye Drop Preparation in Patients Diagnosed With Ligneous Conjunctivitis Completed NCT01554956 Phase 2, Phase 3
2 A Phase 2/3, Open-Label, Repeat-Dose Study of the Pharmacokinetics, Efficacy, and Safety of Prometic Plasminogen Intravenous Infusion in Subjects With Hypoplasminogenemia Completed NCT02690714 Phase 2, Phase 3
3 The Use of Allogenic Plasma Aliquots as a Source of Plasminogen in the Treatment of Ligneous Conjunctivitis, Clinical Trial of One Case Enrolling by invitation NCT04275232 Phase 3
4 A Phase 1, Dose Escalation, and Pharmacokinetic Study of ProMetic Plasminogen Administered as Intravenous Infusion in Adults and Children With Hypoplasminogenemia Completed NCT02312180 Phase 1
5 Hypoplasminogenemia: An International RetroSpecTive and PrOspective CohoRt StudY (HISTORY) Recruiting NCT03797495
6 Sponsor Initiated Expanded Access Protocol, Intermediate-Size Patient Population Available NCT04586062 Plasminogen
7 A Treatment Protocol for Extended Administration of Prometic Plasminogen (Human) by Intravenous Infusion in Subjects With Hypoplasminogenemia Requiring Plasminogen Replacement Therapy No longer available NCT03642691
8 A Single-patient Study of Repeat-dose Administration of ProMetic Plasminogen (Human) Intravenous Infusion in an Adult With Hypoplasminogenemia No longer available NCT03265171

Search NIH Clinical Center for Plasminogen Deficiency, Type I

Cochrane evidence based reviews: plasminogen deficiency, type i

Genetic Tests for Plasminogen Deficiency, Type I

Genetic tests related to Plasminogen Deficiency, Type I:

# Genetic test Affiliating Genes
1 Plasminogen Deficiency, Type I 29 PLG
2 Dysplasminogenemia 29

Anatomical Context for Plasminogen Deficiency, Type I

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

40
Eye, Trachea, Ovary, Heart, Cervix, Bone Marrow, Bone

Publications for Plasminogen Deficiency, Type I

Articles related to Plasminogen Deficiency, Type I:

(show top 50) (show all 57)
# Title Authors PMID Year
1
Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients. 57 6
16849641 2006
2
Ligneous conjunctivitis. 6 57
12850227 2003
3
Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis. 6 57
10233898 1999
4
Therapy with a purified plasminogen concentrate in an infant with ligneous conjunctivitis and homozygous plasminogen deficiency. 6 57
9834305 1998
5
Homozygous mutations in the plasminogen gene of two unrelated girls with ligneous conjunctivitis. 6 57
9242524 1997
6
Ligneous conjunctivitis: an autosomal recessive disorder. 6 57
3723296 1986
7
Abnormal plasminogen. A hereditary molecular abnormality found in a patient with recurrent thrombosis. 57 6
659588 1978
8
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 6
31064749 2019
9
Plasminogen Kanagawa-I, a novel missense mutation, is caused by the amino acid substitution G732R. 6
9858247 1998
10
Healing of corneal epithelial defects in plasminogen- and fibrinogen-deficient mice. 57
9501859 1998
11
Ligneous conjunctivitis in plasminogen-deficient mice. 57
9473227 1998
12
Ala601-Thr type dysplasminogenaemia genetically diagnosed in patients with retinochoroidal vascular disorders. 6
9375744 1997
13
Homozygous type I plasminogen deficiency. 57
9255907 1997
14
Isolated familial plasminogen deficiency may not be a risk factor for thrombosis. 57
8972025 1996
15
Ligneous conjunctivitis in four Doberman pinschers. 57
8875361 1996
16
Ligneous conjunctivitis. Ten years follow-up. 57
8115121 1993
17
Congenital plasminogen deficiency caused by a Ser572 to Pro mutation. 6
8392398 1993
18
Plasminogen with type-I mutation is polymorphic in the Japanese population. 6
1427790 1992
19
Type I congenital plasminogen deficiency is not a risk factor for thrombosis. 57
1621238 1992
20
Two types of abnormal genes for plasminogen in families with a predisposition for thrombosis. 6
1986355 1991
21
Ligneous conjunctivitis: an ophthalmic disease with potentially fatal tracheobronchial obstruction. Laryngeal and tracheobronchial features. 57
2195957 1990
22
Ligneous conjunctivitis with ear involvement. 57
2138884 1990
23
Thrombovascular disease and familial plasminogen deficiency: a report of three kindreds. 57
3219292 1988
24
Plasminogens Tochigi II and Nagoya: two additional molecular defects with Ala-600----Thr replacement found in plasmin light chain variants. 6
6238949 1984
25
Plasminogen Tochigi: inactive plasmin resulting from replacement of alanine-600 by threonine in the active site. 6
6216475 1982
26
Gingival swelling associated with hypoplasminogenemia. 61
27521869 2016
27
A puzzling case: hypoplasminogenemia, ligneous conjunctivitis and hydrocephalus. 61
25006691 2015
28
Root dentin anomaly and a PLG mutation. 61
25281489 2014
29
Estrogen modulates plasminogen promoter activity. 61
23872150 2013
30
Management of ligneous conjunctivitis in a child with plasminogen deficiency. 61
21625933 2011
31
Isoelectric focusing pattern of plasminogen mutants of patients with hypoplasminogenemia: correlation of in-vitro data with computer-predicted isoelectric points (pI). 61
21537161 2011
32
Pseudomembranous disease (ligneous inflammation) of the female genital tract, peritoneum, gingiva, and paranasal sinuses associated with plasminogen deficiency. 61
19302964 2009
33
Plasminogen deficiency. 61
17900274 2007
34
Difficulties in mutation screening of the plasminogen (PLG) gene in patients with ligneous conjunctivitis and severe hypoplasminogenemia. 61
17846386 2007
35
Hypoplasminogenemia with ligneous periodontitis: a failed local therapeutic approach. 61
17539733 2007
36
Juvenile colloid milium and ligneous conjunctivitis are caused by severe hypoplasminogenemia--no evidence for causal relationship to non-Hodgkin's lymphoma. 61
17062083 2006
37
Characterization of plasminogen variants in healthy subjects and plasminogen mutants in patients with inherited plasminogen deficiency by isoelectric focusing gel electrophoresis. 61
15269832 2004
38
Ligneous (pseudomembranous) inflammation involving the female genital tract associated with type-1 plasminogen deficiency. 61
15213608 2004
39
Recurrent recalcitrant gingival hyperplasia and plasminogen deficiency: a case report. 61
14653398 2003
40
Contraceptive pills induce an improvement in congenital hypoplasminogenemia in two unrelated patients with ligneous conjunctivitis. 61
12876630 2003
41
Oral lesions indicative of plasminogen deficiency (hypoplasminogenemia). 61
11250632 2001
42
Combined heterozygous plasminogen deficiency and factor V Leiden defect in the same kindred. 61
10726047 2000
43
Familial association of hypoplasminogenemia and heterozygous factor V deficiency. 61
10726026 1999
44
[Congenital hypoplasminogenemia and dysplasminogenemia (type I and type II congenital plasminogen deficiency)]. 61
9851072 1998
45
Fibrinogen heterogeneity in homozygous plasminogen deficiency type I: further evidence that plasmin is not involved in formation of LMW- and LMW'-fibrinogen. 61
9184396 1997
46
Age-related differences in a clot lysis assay after adding different plasminogen activators in a plasma milieu in vitro. 61
7620925 1995
47
Fibrinolytic pattern in recurrent spontaneous abortions: no relationship between hypofibrinolysis and anti-phospholipid antibodies. 61
7977298 1994
48
Symptomatic versus asymptomatic patients in congenital hypoplasminogenemia: a statistical analysis. 61
7890263 1994
49
Unusual thrombotic-like retinopathy (Coats' disease) associated with congenital plasminogen deficiency type I. 61
8258756 1993
50
Danazol therapy in hypoplasminogenemia. 61
1412174 1992

Variations for Plasminogen Deficiency, Type I

ClinVar genetic disease variations for Plasminogen Deficiency, Type I:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLG NM_000301.3(PLG):c.704G>A (p.Arg235His) SNV Pathogenic 13577 rs121918030 GRCh37: 6:161137712-161137712
GRCh38: 6:160716680-160716680
2 PLG NM_000301.3(PLG):c.1848G>A (p.Trp616Ter) SNV Pathogenic 13578 rs121918031 GRCh37: 6:161159615-161159615
GRCh38: 6:160738583-160738583
3 PLG NM_000301.3(PLG):c.1435G>T (p.Glu479Ter) SNV Pathogenic 13579 rs121918032 GRCh37: 6:161152261-161152261
GRCh38: 6:160731229-160731229
4 PLG NM_000301.3(PLG):c.687_689GAA[2] (p.Lys231del) Microsatellite Pathogenic 13581 rs121918034 GRCh37: 6:161137695-161137697
GRCh38: 6:160716663-160716665
5 PLG NM_000301.3(PLG):c.2125+1del Deletion Pathogenic 13582 rs606231210 GRCh37: 6:161162449-161162449
GRCh38: 6:160741417-160741417
6 PLG NM_000301.5(PLG):c.886T>G (p.Cys296Gly) SNV Pathogenic 830236 GRCh37: 6:161139424-161139424
GRCh38: 6:160718392-160718392
7 PLG NM_000301.3(PLG):c.1858G>A (p.Ala620Thr) SNV Pathogenic 13574 rs121918027 GRCh37: 6:161159625-161159625
GRCh38: 6:160738593-160738593
8 PLG NM_000301.3(PLG):c.1120G>T (p.Val374Phe) SNV Pathogenic 13575 rs121918028 GRCh37: 6:161143463-161143463
GRCh38: 6:160722431-160722431
9 PLG NM_000301.3(PLG):c.1771T>C (p.Ser591Pro) SNV Pathogenic 13576 rs121918029 GRCh37: 6:161158008-161158008
GRCh38: 6:160736976-160736976
10 PLG NM_000301.3(PLG):c.2251G>A (p.Gly751Arg) SNV Pathogenic 13580 rs121918033 GRCh37: 6:161173272-161173272
GRCh38: 6:160752240-160752240
11 PLG NM_001168338.1(PLG):c.112A>G (p.Lys38Glu) SNV Pathogenic/Likely pathogenic 13583 rs73015965 GRCh37: 6:161127501-161127501
GRCh38: 6:160706469-160706469
12 PLG NM_000301.3(PLG):c.1858G>A (p.Ala620Thr) SNV Conflicting interpretations of pathogenicity 13574 rs121918027 GRCh37: 6:161159625-161159625
GRCh38: 6:160738593-160738593
13 PLG NM_000301.3(PLG):c.1217C>A (p.Pro406Gln) SNV Uncertain significance 626982 rs1582940083 GRCh37: 6:161143560-161143560
GRCh38: 6:160722528-160722528
14 PLG NM_000301.3(PLG):c.950+4A>G SNV Uncertain significance 627160 rs1582937995 GRCh37: 6:161139492-161139492
GRCh38: 6:160718460-160718460
15 PLG NM_000301.3(PLG):c.2278A>G (p.Ser760Gly) SNV Uncertain significance 627281 rs1582955692 GRCh37: 6:161173938-161173938
GRCh38: 6:160752906-160752906
16 PLG NM_000301.5(PLG):c.2263A>G (p.Ser755Gly) SNV Uncertain significance 930467 GRCh37: 6:161173284-161173284
GRCh38: 6:160752252-160752252
17 PLG NM_000301.5(PLG):c.266G>C (p.Arg89Thr) SNV Uncertain significance 1032300 GRCh37: 6:161128812-161128812
GRCh38: 6:160707780-160707780
18 PLG NM_000301.5(PLG):c.1469G>A (p.Arg490Gln) SNV Uncertain significance 76224 rs140537724 GRCh37: 6:161152807-161152807
GRCh38: 6:160731775-160731775
19 PLG NM_000301.3(PLG):c.2045T>A (p.Ile682Asn) SNV Uncertain significance 692203 rs147175166 GRCh37: 6:161162369-161162369
GRCh38: 6:160741337-160741337
20 PLG NM_000301.5(PLG):c.466G>A (p.Asp156Asn) SNV Uncertain significance 1029782 GRCh37: 6:161134076-161134076
GRCh38: 6:160713044-160713044

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

72
# 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

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 KEGG:

36
# Name Kegg Source Accession
1 Neuroactive ligand-receptor interaction hsa04080
2 Complement and coagulation cascades hsa04610

GO Terms for Plasminogen Deficiency, Type I

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.72 SPINK13 SERPINF2 PLG PLAT HRG
2 cell surface GO:0009986 9.56 SERPINF2 PLG PLAT HRG
3 blood microparticle GO:0072562 9.33 SERPINF2 PLG HRG
4 collagen-containing extracellular matrix GO:0062023 9.26 SERPINF2 PLG PLAT HRG
5 platelet alpha granule lumen GO:0031093 8.8 SERPINF2 PLG HRG

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

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.5 PLG PLAT HRG
2 negative regulation of endopeptidase activity GO:0010951 9.43 SPINK13 SERPINF2 HRG
3 negative regulation of peptidase activity GO:0010466 9.4 SPINK13 SERPINF2
4 hemostasis GO:0007599 9.37 PLG HRG
5 platelet degranulation GO:0002576 9.33 SERPINF2 PLG HRG
6 negative regulation of fibrinolysis GO:0051918 9.13 SERPINF2 PLG HRG
7 fibrinolysis GO:0042730 8.92 SERPINF2 PLG PLAT HRG

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.33 PLG PLAT HRG
2 peptidase inhibitor activity GO:0030414 9.26 SPINK13 SERPINF2
3 endopeptidase inhibitor activity GO:0004866 8.96 SERPINF2 HRG
4 serine-type endopeptidase inhibitor activity GO:0004867 8.8 SPINK13 SERPINF2 HRG

Sources for Plasminogen Deficiency, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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