MCID: PTR004
MIFTS: 43

Pterygium malady

Genetic diseases (common), Eye diseases categories

Summaries for Pterygium

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34MalaCards
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MalaCards: Pterygium is related to popliteal pterygium syndrome and multiple pterygium syndrome lethal type. An important gene associated with Pterygium is CHRNG (cholinergic receptor, nicotinic, gamma (muscle)), and among its related pathways are NF-kappaB Signaling and Agrin Interactions at Neuromuscular Junction. The compounds acetylcholine and galantamine have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and testes, and related mouse phenotypes are integument and respiratory system.

Aliases & Classifications for Pterygium

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Sources:
9Disease Ontology, 63UMLS, 36MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Eye diseases


Aliases & Descriptions:

pterygium 9 63


External Ids:

Disease Ontology9 DOID:0002116
MeSH36 D011625

Related Diseases for Pterygium

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18GeneCards, 19GeneDecks
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Diseases in the Central Pterygium family:

pterygium Multiple Pterygium Syndrome, Dominant

Diseases related to Pterygium via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 152)
idRelated DiseaseScoreTop Affiliating Genes
1popliteal pterygium syndrome31.3IRF6
2multiple pterygium syndrome lethal type30.7CHRND, CHRNG, CHRNA1
3fetal akinesia deformation sequence30.1RAPSN
4multiple pterygium syndrome escobar type10.6
5pinguecula10.5
6antecubital pterygium10.4
7scleritis10.4
8endotheliitis10.4
9popliteal pterygium syndrome lethal type10.3
10van der woude syndrome10.3
11popliteal pterygium syndrome 2, lethal type10.3
12astigmatism10.2
13multiple pterygium syndrome aslan type10.2
14cataract10.2
15multiple pterygium syndrome x-linked10.2
16pterygium of the conjunctiva and cornea10.2
17progressive peripheral pterygium10.2
18pterygium of the conjunctiva, familial form10.2
19pterygium colli - intellectual disability - digital anomalies10.2
20autosomal dominant multiple pterygium syndrome10.2
21burns10.1
22double pterygium10.1
23central pterygium10.1
24keratitis10.1
25pterygium colli mental retardation digital anomalies10.1
26spondylohypoplasia, arthrogryposis and popliteal pterygium10.1
27popliteal pterygium syndrome 110.1
28x-linked lethal multiple pterygium syndrome10.1
29congenital myasthenic syndrome10.1CHRNA1, CHRNG
30nicotine dependence10.1CHRNB1
31myasthenic syndrome, fast-channel congenital10.0CHRND, CHRNA1
32myasthenia gravis10.0RAPSN, CHRNA1
33cystic lymphangioma10.0CHRNG, CHRND
34congenital myasthenic syndrome associated with acetylcholine receptor deficiency10.0CHRNB1, RAPSN
35nail-patella syndrome10.0
36cleft lip10.0
37conjunctivochalasis10.0
38xeroderma pigmentosum10.0
39achondrogenesis type ib10.0
40endophthalmitis10.0
41esotropia10.0
42leprosy10.0
43turner syndrome10.0
44noonan syndrome 110.0
45multiple pterygium syndrome, dominant10.0
46chrna1-related multiple pterygium syndrome, lethal type10.0
47chrnd-related multiple pterygium syndrome, lethal type10.0
48onychomatricoma10.0
49slow-channel congenital myasthenic syndrome10.0CHRNB1, CHRNA1, CHRND
50hymenolepiasis10.0KRT4, KRT3

Graphical network of the top 20 diseases related to Pterygium:



Diseases related to pterygium

Symptoms for Pterygium

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Drugs & Therapeutics for Pterygium

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Pterygium

Drug clinical trials:

Search ClinicalTrials for Pterygium

Search NIH Clinical Center for Pterygium

Search CenterWatch for Pterygium

Genetic Tests for Pterygium

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Anatomical Context for Pterygium

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34MalaCards
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MalaCards organs/tissues related to Pterygium:

34
Eye, Endothelial, Testes, Kidney, Lung, Thyroid, Myeloid

Animal Models for Pterygium or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Pterygium:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.0RIPK4, KRT4, CHRNG, IRF6
2MP:00053888.6AQP5, CHRNG, RAPSN, RIPK4
3MP:00053818.3AQP5, IRF6, KRT4, RIPK4
4MP:00107687.5RIPK4, AQP5, IRF6, CHRNA1, CHRNG, RAPSN

Publications for Pterygium

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53PubMed
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Articles related to Pterygium:

(show top 50)    (show all 608)
idTitleAuthorsYear
1
Peroxiredoxin I and II in Human Eyes: Cellular Distribution and Association with Pterygium and DNA Damage. (24152995)
2014
2
Sutureless and glue free limbal conjunctival auto graft for primary pterygium surgery. (23584665)
2013
3
Investigation of trace elements in pterygium tissue. (23432702)
2013
4
Comparison of wide conjunctival flap and conjunctival autografting techniques in pterygium surgery. (23533701)
2013
5
The association of Klinefelter syndrome and multiple pterygium syndrome: an unusual presentation. (24382544)
2013
6
Prevalence of pterygium in a population in Northern Japan: the Locomotive Syndrome and Health Outcome in Aizu Cohort Study. (23552021)
2013
7
Ocular demodicosis as a risk factor of pterygium recurrence. (23664471)
2013
8
Preoperative factors influencing success in pterygium surgery. (22873737)
2012
9
Effects of pterygium surgery on front and back corneal astigmatism. (23036543)
2012
10
New approach for pterygium removal using 20A % ethanol. (22717949)
2012
11
Randomized trial of pterygium surgery with mitomycin C application using conjunctival autograft versus conjunctival-limbal autograft. (22153864)
2012
12
Randomized controlled trial of subconjunctival bevacizumab injection in impending recurrent pterygium: a pilot study. (22081150)
2012
13
Anesthetic management of a pregnant patient with multiple pterygium syndrome (Escobar type). (22325835)
2012
14
Topical dobesilate eye drops for ophthalmic primary pterygium. (22605609)
2012
15
Anesthetic approach to a patient with multiple pterygium (Escobar) syndrome. (22486906)
2012
16
Topical cyclosporine A administration after pterygium surgery. (21725937)
2012
17
Effects of pterygium surgery on front and back corneal surfaces and anterior segment parameters. (22484701)
2012
18
Comparison of conjunctival autograft transplantation and amniotic membrane transplantation for pterygium: a meta-analysis. (21935607)
2012
19
Immunohistochemical profile of VEGF, TGF-I^ and PGEa88 in human pterygium and normal conjunctiva: experimental study and review of the literature. (23058011)
2012
20
The effect of topical 0.05% cyclosporine on recurrence following pterygium surgery. (21760716)
2011
21
Small interfering RNA targeting of S phase kinase-interacting protein 2 inhibits cell proliferation of pterygium fibroblasts. (21270971)
2011
22
Prevalence of pinguecula and pterygium in a general population in Spain. (21183945)
2011
23
Subconjunctival bevacizumab injection in treatment of pterygium. (21681707)
2011
24
Cosmesis after pterygium extended removal followed by extended conjunctival transplant as assessed by a new, web-based grading system. (21640383)
2011
25
The nuclear-factor kappaB pathway is activated in pterygium. (20811049)
2011
26
Troglitazone induced apoptosis of human pterygium fibroblasts through a mitochondrial-dependent pathway. (22553629)
2011
27
Long-term follow-up of pterygium surgery using a conjunctival autograft and Tissucol. (20861727)
2011
28
Effects of Pterygium on Ocular Aberrations. (20697274)
2010
29
Comparison of fibrin glue and suture technique in pterygium surgery performed with limbal autograft. (22553582)
2010
30
Endothelial cell loss during pterygium surgery: importance of timing of mitomycin C application. (19654528)
2009
31
The effect of mitomycin C on corneal endothelium in pterygium surgery. (18992871)
2009
32
Pterygium recurrence after excision with conjunctival autograft: a comparison of fibrin tissue adhesive to absorbable sutures. (19092404)
2009
33
Recurrent pterygium surgery using pterygium extended removal followed by extended conjunctival transplant: recurrence rate and cosmesis. (19576496)
2009
34
Invasive squamous cell carcinoma of the conjunctiva first misdiagnosed as a pterygium: a clinicopathologic case report. (18463488)
2008
35
Results of pterygium surgery using a biologic adhesive. (18580257)
2008
36
Nine-year incidence and risk factors for pterygium in the barbados eye studies. (18930552)
2008
37
The prevalence, severity and risk factors for pterygium in central Myanmar: the Meiktila Eye Study. (18055574)
2008
38
Familial multiple pterygium syndrome (MPS) is not associated with CHRNG gene mutation. (17431910)
2007
39
Blood vessel multiply and significance of expression of Cox-2, VEGF in pterygium]. (17444036)
2007
40
Surgical technique for recurrent pterygium. (16877085)
2006
41
Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome. (16160700)
2005
42
Trefoil factor family mRNA and protein expression in pterygium. (16142316)
2005
43
The abnormal expression of interleukine-1 family in pterygium]. (12870354)
2003
44
Gene symbol IRF6. Disease: Van der Woude syndrome and popliteal pterygium. (14640121)
2003
45
Popliteal pterygium associated with neonatal Marfan syndrome: case report. (11446416)
2001
46
Molecular genetic alterations and viral presence in ophthalmic pterygium. (10851263)
2000
47
Antecubital pterygium and cleft lip/palate presenting as signs of the nail-patella syndrome: report of a Brazilian family. (2012138)
1991
48
Lethal multiple pterygium syndrome: report of a new case with hydranencephaly. (3789017)
1986
49
An incomplete form of the popliteal pterygium syndrome? (6595011)
1984
50
Popliteal pterygium syndrome. Evidence for a severe autosomal recessive form. (4339984)
1972

Variations for Pterygium

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Expression for genes affiliated with Pterygium

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pterygium

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Pathways for genes affiliated with Pterygium

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51PathCards, 5Cell Signaling Technology, 54QIAGEN, 56Reactome, 39NCBI BioSystems Database, 31KEGG, 13EMD Millipore
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Pathways related to Pterygium according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8IRF6, RIPK4
29.6CHRNA1, RAPSN
3
Show member pathways
9.5CHRNA1, CHRNB1
4
Show member pathways
9.4CHRND, CHRNA1, CHRNG
5
Show member pathways
9.4CHRNA1, CHRND, CHRNG
6
Show member pathways
9.4CHRNA1, CHRND, CHRNG
7
Show member pathways
8.9CHRNB1, CHRNA1, CHRND, CHRNG
88.9CHRNB1, CHRNA1, CHRND, CHRNG
9
Show member pathways
8.3CHRNG, CHRND, CHRNA1, CHRNB1, AQP5

Compounds for genes affiliated with Pterygium

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46Novoseek, 52PharmGKB, 30IUPHAR, 25HMDB, 12DrugBank
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Compounds related to Pterygium according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acetylcholine46 52 30 25 1213.3RAPSN, CHRND, CHRNA1
2galantamine46 52 1210.6CHRNG, CHRND, CHRNA1, CHRNB1

GO Terms for genes affiliated with Pterygium

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17Gene Ontology
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Cellular components related to Pterygium according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuromuscular junctionGO:0315949.5CHRNA1, RAPSN
2intermediate filamentGO:0058829.1KRT4, KRT3
3acetylcholine-gated channel complexGO:0058929.0CHRNB1, CHRNG, CHRND, CHRNA1
4keratin filamentGO:0450958.8KRT4, KRT3
5postsynaptic membraneGO:0452118.5RAPSN, CHRNG, CHRND, CHRNB1, CHRNA1
6cell junctionGO:0300548.4CHRNB1, CHRNA1, RAPSN, CHRNG, CHRND

Biological processes related to Pterygium according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1skeletal muscle tissue growthGO:04863010.0CHRND, CHRNA1
2musculoskeletal movementGO:0508819.9CHRNA1, CHRND
3neuromuscular processGO:0509059.8CHRND, CHRNA1
4neuromuscular synaptic transmissionGO:0072749.7CHRNA1, CHRNB1
5synaptic transmission, cholinergicGO:0072719.6RAPSN, CHRNB1
6muscle contractionGO:0069369.5CHRNB1, CHRND, CHRNG
7cation transportGO:0068129.5CHRND, CHRNA1, CHRNB1
8transportGO:0068109.4CHRND, CHRNG, CHRNA1
9regulation of membrane potentialGO:0423919.2CHRNG, CHRND, CHRNA1, CHRNB1
10synaptic transmissionGO:0072689.1CHRNA1, CHRND, CHRNG, RAPSN
11transmembrane transportGO:0550859.0CHRNG, CHRNB1, AQP5
12epithelial cell differentiationGO:0308558.8KRT4, KRT3
13signal transductionGO:0071658.8CHRNG, CHRNB1, CHRNA1, CHRND

Molecular functions related to Pterygium according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1channel activityGO:0152679.7CHRNB1, CHRNG
2acetylcholine bindingGO:0421669.1CHRNA1, CHRND, CHRNB1
3acetylcholine receptor activityGO:0154648.9CHRNA1, CHRNB1, CHRNG
4acetylcholine-activated cation-selective channel activityGO:0048898.9CHRNG, CHRND, CHRNA1, CHRNB1

Products for genes affiliated with Pterygium

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  • Antibodies
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Sources for Pterygium

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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