MCID: CNJ014
MIFTS: 30

Conjunctivitis Ligneous malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases categories
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Summaries for Conjunctivitis Ligneous

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Sources:
43NIH Rare Diseases, 65Wikipedia, 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 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:65 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

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Sources:
43NIH Rare Diseases, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 26ICD10 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):

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 62
hypoplasminogenemia 49 62
plasminogen deficiency type 1 49
conjunctivitis lignosa 49


External Ids:

OMIM47 217090
SNOMED-CT via Orphanet59 95840007, 403435005
UMLS via Orphanet63 C0398621, C1274789
ICD10 via Orphanet26 H10.4

Related Diseases for Conjunctivitis Ligneous

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Sources:
17GeneCards, 18GeneDecks
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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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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

217090

Clinical features from OMIM:

217090

Symptoms:

49 (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:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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33MalaCards
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MalaCards organs/tissues related to Conjunctivitis Ligneous:

33
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:
64UniProtKB/Swiss-Prot, 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Conjunctivitis Ligneous:

64
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, 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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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
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet