MCID: CNJ014
MIFTS: 43

Conjunctivitis Ligneous malady

Eye diseases, Bone diseases categories

Summaries for Conjunctivitis Ligneous

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 conjunctivitis and crohn's disease, and has symptoms including dandy-walker anomaly, hydrocephaly and anomalies of tongue, gingiva and oral mucosa. 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 trachea, eye and kidney.

Wikipedia:63 Ligneous conjunctivitis is a rare form of chronic conjunctivitis characterized by recurrent, fibrin-rich... more...

Description from OMIM:46 217090

Aliases & Classifications for Conjunctivitis Ligneous

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Sources:
42NIH Rare Diseases, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42
conjunctivitis, ligneous 46 44
ligneous conjunctivitis 48 60
hypoplasminogenemia 48 60
plasminogen deficiency type 1 48
conjunctivitis lignosa 48


External Ids:

OMIM46 217090
SNOMED-CT via Orphanet57 95840007, 403435005
UMLS via Orphanet61 C0398621, C1274789
ICD10 via Orphanet26 H10.4

Related Diseases for Conjunctivitis Ligneous

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Conjunctivitis Ligneous:



Diseases related to conjunctivitis ligneous

Clinical Features for Conjunctivitis Ligneous

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46OMIM, 48Orphanet
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Clinical features from OMIM:

217090

Clinical synopsis from OMIM:

217090

Symptoms:

48 (show all 11)
  • dandy-walker anomaly
  • hydrocephaly
  • 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
  • anomalies of eyes and vision

Drugs & Therapeutics for Conjunctivitis Ligneous

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Conjunctivitis Ligneous

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Anatomical Context for Conjunctivitis Ligneous

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32MalaCards
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MalaCards organs/tissues related to Conjunctivitis Ligneous:

32
Trachea, Eye, Kidney, Cervix, Uterus, Ovary, Tongue, Colon, Bone, Skin

Animal Models for Conjunctivitis Ligneous or affiliated genes

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Publications for Conjunctivitis Ligneous

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Genetic Variations for Conjunctivitis Ligneous

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Conjunctivitis Ligneous:

62
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

Expression for genes affiliated with Conjunctivitis Ligneous

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

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Pathways for genes affiliated with Conjunctivitis Ligneous

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Sources:
37NCBI BioSystems Database, 12EMD Millipore, 53Reactome
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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
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9.1ELANE, PLG

Compounds for genes affiliated with Conjunctivitis Ligneous

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Sources:
44Novoseek, 11DrugBank, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience, 24HMDB
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Compounds related to Conjunctivitis Ligneous according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1benzamidine44 1110.3PLG, ELANE
2epsilon aminocaproic acid449.3PLG, ELANE
3alginate449.3ELANE, PLG
4leupeptin449.2PLG, ELANE
5captopril44 28 49 59 1113.2ELANE, PLG
6kininogen449.1ELANE, PLG
7heparin44 28 11 2412.1PLG, ELANE
8aprotinin44 1110.0PLG, ELANE
9fibrinogen448.8PLG, ELANE

GO Terms for genes affiliated with Conjunctivitis Ligneous

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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

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  • Antibodies
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Sources for Conjunctivitis Ligneous

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet