MCID: CNJ014
MIFTS: 35

Conjunctivitis Ligneous malady

Eye, Bone categories

Summaries for Conjunctivitis Ligneous

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Ligneous conjunctivitis is a rare disorder characterized by the buildup of a protein called fibrin which causes inflammation of the conjunctiva (conjunctivitis) and leads to thick, woody (ligneous), inflamed growths that are yellow, white, or red. ligneous conjunctivitis most often occurs on the inside of the eyelids, but may also affect the sclera, cornea and pupil, leading to vision loss. a systemic form of the condition may occur, affecting the mucous membranes of the larynx, vocal chords, nose, trachea, bronchi, vagina, cervix, and gingiva. the cause of ligneous conjunctivitis is unknown. autosomal recessive inheritance has been suggested in some cases. ligneous conjunctivitis is sometimes associated with a condition known as congenital plasminogen deficiency. last updated: 4/29/2013

MalaCards: Conjunctivitis Ligneous, also known as conjunctivitis, ligneous, is related to type 1 plasminogen deficiency and congenital plasminogen deficiency, and has symptoms including anomalies of eyes and vision, anomalies of tongue, gingiva and oral mucosa and structural anomalies of middle ear/ossicles/tympanic cavity. An important gene associated with Conjunctivitis Ligneous is PLG (plasminogen), and among its related pathways are amb2 Integrin signaling and Cell adhesion Cell-matrix glycoconjugates. The compounds benzamidine and epsilon aminocaproic acid have been mentioned in the context of this disorder. Affiliated tissues include kidney, cervix and trachea.

Wikipedia:64 Ligneous conjunctivitis is a rare form of chronic conjunctivitis characterized by recurrent, fibrin-rich... more...

Description from OMIM:47 217090

Aliases & Classifications for Conjunctivitis Ligneous

Sources:
43NIH Rare Diseases, 49Orphanet, 61UMLS, 47OMIM, 45Novoseek, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye, Bone


Characteristics (Orphanet epidemiological data):

49
hypoplasminogenemia:
Inheritance: Autosomal recessive,Sporadic; Prevalence: 1-9/1000000; Age of onset: Variable
ligneous conjunctivitis:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: Any age


Aliases & Descriptions:

conjunctivitis ligneous 43
conjunctivitis, ligneous 47 45
ligneous conjunctivitis 49 61
hypoplasminogenemia 49 61
plasminogen deficiency type 1 49
conjunctivitis lignosa 49


External Ids:

OMIM47 217090
SNOMED-CT via Orphanet58 95840007, 403435005
UMLS via Orphanet62 C0398621, C1274789
ICD10 via Orphanet26 H10.4

Related Diseases for Conjunctivitis Ligneous

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Conjunctivitis Ligneous:



Diseases related to conjunctivitis ligneous

Clinical Features for Conjunctivitis Ligneous

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

217090

Clinical synopsis from OMIM:

217090

Symptoms:

49 (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

Drugs & Therapeutics for Conjunctivitis Ligneous

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Conjunctivitis Ligneous

Drug clinical trials:

Search ClinicalTrials for Conjunctivitis Ligneous

Search NIH Clinical Center for Conjunctivitis Ligneous

Search CenterWatch for Conjunctivitis Ligneous

Genetic Tests for Conjunctivitis Ligneous

Anatomical Context for Conjunctivitis Ligneous

Sources:
33MalaCards
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MalaCards organs/tissues related to Conjunctivitis Ligneous:

33
Kidney, Cervix, Trachea

Animal Models for Conjunctivitis Ligneous or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Conjunctivitis Ligneous

Sources:
51PubMed
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Articles related to Conjunctivitis Ligneous:

(show all 27)
idTitleAuthorsYear
1
Ligneous conjunctivitis in a young patient with homozygous K19E plasminogen gene mutation: a diagnostic and therapeutic challenge. (23629776)
2013
2
Conjunctival instillation of plasminogen eliminates ocular lesion in B6.129P2-Plg(tm1Jld) transgenic mice, a model of ligneous conjunctivitis. (23684723)
2013
3
Is the B6.129P2-Plg transgenic mouse an adequate treatment model for patients with ligneous conjunctivitis? (24056190)
2013
4
Topical fresh frozen plasma and heparin treatment of ligneous conjunctivitis in a Canadian hospital setting. (23036559)
2012
5
Treatment of ligneous conjunctivitis with amniotic membrane transplantation and topical cyclosporine. (23202401)
2012
6
Induction of bilateral ligneous conjunctivitis with the use of a prosthetic eye. (20524141)
2011
7
Heparin in the long-term management of ligneous conjunctivitis: a case report and review of literature. (21885957)
2011
8
Management of ligneous conjunctivitis in a child with plasminogen deficiency. (21625933)
2011
9
Ligneous conjunctivitis with plasminogen deficiency. (19006564)
2009
10
Fresh frozen plasma treatment of ligneous conjunctivitis: use of heparin and allogeneic serum. (19092425)
2009
11
Ligneous conjunctivitis in a plasminogen-deficient dog: clinical management and 2-year follow-up. (19604341)
2009
12
Ligneous periodontitis is an analog lesion of ligneous conjunctivitis and described 150 years later. (19782618)
2009
13
Ligneous conjunctivitis with oral mucous membrane involvement and decreased plasminogen level. (19689523)
2009
14
The first two Japanese cases of severe type I congenital plasminogen deficiency with ligneous conjunctivitis: successful treatment with direct thrombin inhibitor and fresh plasma. (19373890)
2009
15
Systemic and topical fresh-frozen plasma treatment in a newborn with ligneous conjunctivitis. (18434858)
2008
16
Ligneous conjunctivitis secondary to a congenital plasminogen deficiency in a dog. (18312178)
2008
17
Long-term efficacy of surgical removal of pseudomembranes in a child with ligneous conjunctivitis treated with plasminogen eyedrops. (19132249)
2008
18
Ligneous conjunctivitis in a patient with Crohn's disease. (19668406)
2008
19
Ligneous conjunctivitis: a clinicopathological, immunohistochemical, and genetic study including the treatment of two sisters with multiorgan involvement. (17701212)
2007
20
Difficulties in mutation screening of the plasminogen (PLG) gene in patients with ligneous conjunctivitis and severe hypoplasminogenemia. (17846386)
2007
21
Ligneous conjunctivitis, hydrocephalus, hydrocele, and pulmonary involvement in a child with homozygous type I plasminogen deficiency. (12719968)
2003
22
Contraceptive pills induce an improvement in congenital hypoplasminogenemia in two unrelated patients with ligneous conjunctivitis. (12876630)
2003
23
Ligneous conjunctivitis: biochemical evidence for hypofibrinolysis. (10704063)
2000
24
Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis. (10233898)
1999
25
Polymorphonuclear elastase in patients with homozygous type I plasminogen deficiency and ligneous conjunctivitis. (10066157)
1998
26
Therapy with a purified plasminogen concentrate in an infant with ligneous conjunctivitis and homozygous plasminogen deficiency. (9834305)
1998
27
Homozygous mutations in the plasminogen gene of two unrelated girls with ligneous conjunctivitis. (9242524)
1997

Genetic Variations for Conjunctivitis Ligneous

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Conjunctivitis Ligneous:

63
id Symbol AA change Variation 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

Expression for genes affiliated with Conjunctivitis Ligneous

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Conjunctivitis Ligneous

Search GEO for disease gene expression data for Conjunctivitis Ligneous.

Pathways for genes affiliated with Conjunctivitis Ligneous

Sources:
38NCBI BioSystems Database, 12EMD Millipore, 54Reactome
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Pathways related to Conjunctivitis Ligneous according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1ELANE, PLG
2
Cell adhesion Cell-matrix glycoconjugates
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9.1ELANE, PLG
3
Hide members
9.1ELANE, PLG

Compounds for genes affiliated with Conjunctivitis Ligneous

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 50PharmGKB, 60Tocris Bioscience, 24HMDB
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Compounds related to Conjunctivitis Ligneous according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1benzamidine45 1110.3ELANE, PLG
2epsilon aminocaproic acid459.3ELANE, PLG
3alginate459.3ELANE, PLG
4leupeptin459.2ELANE, PLG
5captopril45 29 50 60 1113.2PLG, ELANE
6kininogen459.1ELANE, PLG
7heparin45 29 11 2412.1ELANE, PLG
8aprotinin45 1110.0ELANE, PLG
9fibrinogen458.8ELANE, PLG

GO Terms for genes affiliated with Conjunctivitis Ligneous

Sources:
16Gene Ontology
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Cellular components related to Conjunctivitis Ligneous according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:0099869.1ELANE, PLG

Biological processes related to Conjunctivitis Ligneous according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix organizationGO:0301989.1ELANE, PLG
2extracellular matrix disassemblyGO:0226178.8ELANE, PLG

Molecular functions related to Conjunctivitis Ligneous according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:0042529.1ELANE, PLG

Products for genes affiliated with Conjunctivitis Ligneous

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Conjunctivitis Ligneous

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet