MCID: CNJ014
MIFTS: 30

Conjunctivitis Ligneous malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases categories

Summaries for Conjunctivitis Ligneous

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Sources:
44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 structural anomalies of middle ear/ossicles/tympanic cavity, structural anomalies of the respiratory system and diaphragm and anomalies of skin, subcutaneous tissue and mucosae. An important gene associated with Conjunctivitis Ligneous is PLG (plasminogen). Affiliated tissues include trachea, eye and kidney.

Wikipedia:66 Ligneous conjunctivitis is a rare form of chronic conjunctivitis characterized by recurrent, fibrin-rich... more...

Description from OMIM:48 217090

Aliases & Classifications for Conjunctivitis Ligneous

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Sources:
44NIH Rare Diseases, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
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 44
conjunctivitis, ligneous 48 46
ligneous conjunctivitis 50 63
hypoplasminogenemia 50 63
plasminogen deficiency type 1 50
conjunctivitis lignosa 50


External Ids:

OMIM48 217090
SNOMED-CT via Orphanet60 95840007, 403435005
UMLS via Orphanet64 C0398621, C1274789
ICD10 via Orphanet27 H10.4

Related Diseases for Conjunctivitis Ligneous

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Conjunctivitis Ligneous via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1conjunctivitis10.5
2crohn's disease10.2
3hydrocele10.2
4hydrocephalus10.2
5periodontitis10.2
6type 1 plasminogen deficiency10.2
7congenital plasminogen deficiency10.2
8factor v deficiency10.0

Graphical network of diseases related to Conjunctivitis Ligneous:



Diseases related to conjunctivitis ligneous

Symptoms for Conjunctivitis Ligneous

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

217090

Clinical features from OMIM:

217090

Symptoms:

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

Drugs & Therapeutics for Conjunctivitis Ligneous

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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34MalaCards
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MalaCards organs/tissues related to Conjunctivitis Ligneous:

34
Trachea, Eye, Kidney, Cervix, Uterus, Colon, Ovary, Bone, Tongue, Skin

Animal Models for Conjunctivitis Ligneous or affiliated genes

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Publications for Conjunctivitis Ligneous

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Variations for Conjunctivitis Ligneous

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Sources:
65UniProtKB/Swiss-Prot, 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Conjunctivitis Ligneous:

65
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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Sources:
2BioGPS, 16Gene 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

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Compounds for genes affiliated with Conjunctivitis Ligneous

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GO Terms for genes affiliated with Conjunctivitis Ligneous

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Products for genes affiliated with Conjunctivitis Ligneous

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Conjunctivitis Ligneous

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet