MCID: EXF001
MIFTS: 56

Exfoliation Syndrome malady

Eye diseases category

Summaries for Exfoliation Syndrome

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Pseudoexfoliation syndrome, (other names: Exfoliation glaucoma, Pseudoexfoliation glaucoma,... more...

MalaCards: Exfoliation Syndrome, also known as pseudoexfoliation glaucoma, is related to glaucoma and cataract. An important gene associated with Exfoliation Syndrome is LOXL1 (lysyl oxidase-like 1), and among its related pathways are Naphthalene metabolism and Chemical carcinogenesis. The compounds methylchloride and s-phenylmercapturic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and endothelial, and related mouse phenotypes are immune system and integument.

Description from OMIM:48 177650

Aliases & Classifications for Exfoliation Syndrome

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9Disease Ontology, 48OMIM, 11DISEASES, 63UMLS, 46Novoseek, 10diseasecard, 28ICD9CM, 59SNOMED-CT, 36MeSH
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Classifications:

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


Aliases & Descriptions:

exfoliation syndrome 9 48 11 63
pseudoexfoliation glaucoma 9 46
pseudoexfoliation syndrome 9 46
exfoliation syndrome, susceptibility to 10


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Disease Ontology9 DOID:13641
ICD9CM28 365.52
SNOMED-CT59 111514006, 44219007
MeSH36 D017889
OMIM48 177650

Related Diseases for Exfoliation Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Exfoliation Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 124)
idRelated DiseaseScoreTop Affiliating Genes
1glaucoma31.1NUDT6, TIMP2, MMP1, LOXL1, ELN, GSTP1
2cataract30.8NUDT6, SOD1, MMP3, CAT, GSTT1
3open-angle glaucoma30.7MMP1, LOXL1, ELN, GSTM1, GSTT1
4primary open angle glaucoma30.6ELN, GSTM1
5senile cataract30.3SOD1, CAT, GSTM1, GSTT1
6pancreatitis30.2GSTP1, SOD1, MPO
7vascular disease30.2TIMP2, MMP3, ELN, CAT
8hyperhomocysteinemia30.2APOE, SOD1, ELN, MTHFR
9aneurysm30.0TIMP2, MMP3, ELN
10abdominal aortic aneurysm30.0APOE
11melanoma29.9NUDT6, TIMP2, MMP1, CAT, GSTT1
12diabetes mellitus29.7APOE, SOD1, MMP3, MTHFR, CAT
13alzheimer's disease29.7NUDT6, APOE, SOD1, CHRNA4, CAT, GSTM1
14hypertension10.3
15retinitis10.3
16ocular hypertension10.2
17retinoschisis10.2
18rheumatic congestive heart failure10.1TIMP2
19moyamoya disease10.1NUDT6
20aortic disease10.1APOE
21oral submucous fibrosis10.1MMP1
22focal epilepsy10.1CHRNA4
23cerebral aneurysms10.1TIMP2, ELN
24brain cancer10.1GSTM1, GSTT1
25fibromatosis10.1TIMP2
26eclampsia10.1MTHFR
27asbestosis10.1GSTM1, GSTT1
28diabetic cataract10.1CAT
29thoracic aortic aneurysm10.1MMP1, ELN
30sensorineural hearing loss10.1
31lung cancer10.1GSTP1, GSTM1
32epidermolysis bullosa dystrophica10.1MMP3, MMP1
33myelomeningocele10.1MTHFR
34toxic encephalopathy10.1CAT, CHRNA4
35hypertrophic scars10.1ELN, MMP1, NUDT6
36oral lichen planus10.1TIMP2, MMP1
37acute myeloid leukemia, adult10.1GSTM1, GSTT1
38gingival overgrowth10.1MMP1, MMP3, NUDT6
39pulmonary emphysema10.1TIMP2, MMP1, ELN
40chediak-higashi syndrome10.1MPO, LYST
41keloids10.1TIMP2, MMP1, ELN
42laryngeal benign neoplasm10.1GSTT1, GSTP1, GSTM1
43hypermethioninemia10.1SOD1
44conjunctivochalasis10.1MMP1, MMP3, TIMP2
45myeloperoxidase deficiency10.1MPO, CAT
46nasopharynx carcinoma10.1MMP3, GSTM1, GSTT1
47leukoplakia10.1GSTT1, GSTM1
48homocysteinemia10.1MTHFR, ELN
49bladder carcinoma10.1NUDT6, TIMP2, GSTP1
50laryngeal squamous cell carcinoma10.1GSTT1, GSTM1, MMP1

Graphical network of the top 20 diseases related to Exfoliation Syndrome:



Diseases related to exfoliation syndrome

Symptoms for Exfoliation Syndrome

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48OMIM
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Symptoms by clinical synopsis from OMIM:

177650

Clinical features from OMIM:

177650

Drugs & Therapeutics for Exfoliation Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Exfoliation Syndrome

Drug clinical trials:

Search ClinicalTrials for Exfoliation Syndrome

Search NIH Clinical Center for Exfoliation Syndrome

Search CenterWatch for Exfoliation Syndrome

Genetic Tests for Exfoliation Syndrome

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Anatomical Context for Exfoliation Syndrome

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34MalaCards
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MalaCards organs/tissues related to Exfoliation Syndrome:

34
Eye, Retina, Endothelial

Animal Models for Exfoliation Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Exfoliation Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053877.7MPO, TIMP2, SOD1, MMP3, MMP1, CHRNA4
2MP:00107717.4APOE, CHRNA4, LOXL1, LYST, MTHFR, CNTNAP2
3MP:00036316.7APOE, TIMP2, SOD1, MMP3, CHRNA4, LYST
4MP:00053765.9GSTT1, APOE, MPO, TIMP2, SOD1, MMP3

Publications for Exfoliation Syndrome

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53PubMed
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Articles related to Exfoliation Syndrome:

(show top 50)    (show all 231)
idTitleAuthorsYear
1
Circumferential iris transillumination defects in exfoliation syndrome. (22525123)
2013
2
Exfoliation syndrome: new genetic and pathophysiologic insights. (23299249)
2013
3
Serum vitamin D deficiency and its association with systemic disease in exfoliation syndrome. (23564611)
2013
4
Evaluation of LOXL1 polymorphisms in exfoliation syndrome in the Uygur population. (21738402)
2011
5
The relationship between diabetes mellitus and exfoliation syndrome in a United States Veterans Affairs population: a case-control study. (20577098)
2011
6
Review: The role of LOXL1 in exfoliation syndrome/glaucoma. (23960948)
2011
7
Association of lysyl oxidase-like 1 gene polymorphisms with exfoliation syndrome in Koreans. (22128228)
2011
8
Prevalence of exfoliation syndrome in Estonia. (20544671)
2010
9
Exfoliation syndrome in the Reykjavik Eye Study: risk factors for baseline prevalence and 5-year incidence. (19833615)
2010
10
Optic nerve head topography in nonglaucomatous, normotensive patients with unilateral exfoliation syndrome. (19242717)
2009
11
Evaluation of MMP1 and MMP3 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma. (20038976)
2009
12
Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population. (19936304)
2009
13
Biometric characteristics of eyes with exfoliation syndrome and occludable as well as open angles and eyes with primary open-angle glaucoma. (19169317)
2009
14
Antioxidant status in the aqueous humour of patients with glaucoma associated with exfoliation syndrome. (19023334)
2009
15
Directed Therapy: An Approach to the Improved Treatment of Exfoliation syndrome. (20142958)
2009
16
Prooxidant-antioxidant balance, peroxide and catalase activity in the aqueous humour and serum of patients with exfoliation syndrome or exfoliative glaucoma. (18607617)
2008
17
Noncontact in vivo confocal laser scanning microscopy of exfoliation syndrome. (19277220)
2008
18
Intraocular pressure elevation within the first 24 hours after cataract surgery in patients with glaucoma or exfoliation syndrome. (17561259)
2008
19
Exfoliation syndrome: prevalence and inheritance in a subisolate of the Finnish population. (17655611)
2007
20
Effects of APOE and CHRNA4 genotypes on retinal nerve fibre layer thickness at the optic disc and on risk for developing exfoliation syndrome. (17488453)
2007
21
Ultrasound biomicroscopic assessment of zonular appearance in exfoliation syndrome. (17590201)
2007
22
Exfoliation syndrome in Nordic countries: a comparative histopathological study of Danish and Finnish eyes with absolute glaucoma and uveal melanoma. (16396649)
2005
23
Endothelin-1 concentration is increased in the aqueous humour of patients with exfoliation syndrome. (15031170)
2004
24
Why is glaucoma associated with exfoliation syndrome? (12852486)
2003
25
John G. Lindberg and the discovery of exfoliation syndrome. (11952480)
2002
26
Matrix metalloproteinases and their inhibitors in exfoliation syndrome. (12097800)
2002
27
Ascorbic acid concentration is reduced in the aqueous humor of patients with exfoliation syndrome. (12470757)
2002
28
Changes in visual acuity and refraction in the exfoliation syndrome. A five-year follow-up study. (11681503)
2001
29
Exfoliation syndrome as a risk factor for cataract development: five-year follow-up of lens opacities in exfoliation syndrome. (11738916)
2001
30
Electron microscopic study on the development of precapsular layer in eyes with exfoliation syndrome. (10698019)
2000
31
Other aspects of exfoliation syndrome. (9292658)
1997
32
Pseudo-exfoliation syndrome in Chivi District: a disease with no geographical or racial boundaries. (9431761)
1997
33
Exfoliation syndrome in a 17-year-old girl. (9258230)
1997
34
Interocular differences in optic disc configuration in the unilateral exfoliation syndrome. (8079619)
1994
35
Exfoliation syndrome and occludable angles. (7886885)
1994
36
Exfoliation syndrome and cataract extraction. (8116767)
1994
37
Climatic droplet keratopathy, exfoliation syndrome, and cataract. (1768663)
1991
38
Fibrinoid reaction after extracapsular cataract extraction and relationship to exfoliation syndrome. (2810086)
1989
39
Exfoliation syndrome. Prevalence in a southeastern United States population. (3345150)
1988
40
Prevalence of exfoliation syndrome in Finland. (2853908)
1988
41
Prevalence of exfoliation syndrome in the Japanese. (2853906)
1988
42
The ultrastructural changes in the exfoliation syndrome. (2853916)
1988
43
Light microscopy of the exfoliation syndrome. (2853920)
1988
44
Exfoliation syndrome immunological aspects. (2853917)
1988
45
Cataracts in the exfoliation syndrome (fibrillopathia epitheliocapsularis). (6964284)
1982
46
The pseudo-exfoliation syndrome. A scanning electron microscopic study. II. The posterior chamber region. (1243229)
1975
47
On the occurrence of pseudo-exfoliation material in extrabulbar tissue from patients with pseudo-exfoliation syndrome of the eye. (4800604)
1973
48
Light and electron microscopy of the anterior iris surface in eyes with and without pseudo-exfoliation syndrome. (4543234)
1973
49
Pseudoexfoliation of the lens capsule. II. Development of the exfoliation syndrome. (5819822)
1969
50
Exfoliation syndrome. Incidence and prognosis of glaucoma capsulare in Massachusetts. (5928139)
1966

Variations for Exfoliation Syndrome

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Expression for genes affiliated with Exfoliation Syndrome

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

Search GEO for disease gene expression data for Exfoliation Syndrome.

Pathways for genes affiliated with Exfoliation Syndrome

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Sources:
51PathCards, 61Thomson Reuters, 31KEGG, 52PharmGKB, 39NCBI BioSystems Database, 56Reactome, 54QIAGEN, 13EMD Millipore, 5Cell Signaling Technology
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Pathways related to Exfoliation Syndrome according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6GSTT1, GSTP1, GSTM1
2
Show member pathways
9.6GSTT1, GSTP1, GSTM1
3
Show member pathways
glutathione-mediated detoxification I39
glutathione redox reactions I39
glutathione redox reactions II39
4-hydroxy-2-nonenal detoxification39
Glutathione metabolism61
Glutathione metabolism39
9.6GSTM1, GSTP1, GSTT1
4
Show member pathways
9.6MMP1, MMP3, TIMP2
59.5GSTT1, GSTP1, MPO
69.4CAT, SOD1
79.3TIMP2, MMP3, MMP1, ELN
8
Show member pathways
9.3ELN, MMP1, MMP3, TIMP2
9
Show member pathways
9.2TIMP2, MMP3, MMP1, LOXL1, ELN
10
Show member pathways
9.1SOD1, CAT, GSTP1
118.6GSTT1, GSTP1, GSTM1, SOD1, MPO
12
Show member pathways
thioredoxin pathway39
8.5MPO, SOD1, MTHFR, CAT
138.3APOE, SOD1, CNTNAP2, GSTP1
14
Show member pathways
Vitamin B12 Metabolism39
8.1APOE, MPO, SOD1, MTHFR, CAT

Compounds for genes affiliated with Exfoliation Syndrome

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46Novoseek, 12DrugBank, 25HMDB, 52PharmGKB, 30IUPHAR, 62Tocris Bioscience
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Compounds related to Exfoliation Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 248)
idCompoundScoreTop Affiliating Genes
1methylchloride4610.0GSTT1, GSTP1, GSTM1
2s-phenylmercapturic acid469.9GSTP1, GSTM1, GSTT1
3cumene hydroperoxide469.8GSTT1, GSTP1, GSTM1
4(4-aminophenyl)mercuric acetate469.8TIMP2, ELN, MMP1, MMP3
51,3-butadiene469.7GSTP1, GSTM1, GSTT1
6latanoprost46 1210.6MMP1, MMP3, TIMP2
7chi 2469.5GSTT1, TIMP2, GSTM1, MTHFR
8doxycycline46 1210.5GSTP1, ELN, MMP1, NUDT6, MMP3
9adrenochrome46 2510.4GSTT1, GSTP1, GSTM1, SOD1
10n-(2-mercaptopropionyl)glycine469.3SOD1, MPO, CAT
11gsts469.3MTHFR, GSTM1, GSTP1, GSTT1
12oxypurinol469.3SOD1, MPO, CAT
138-oxo-dg469.2GSTM1, SOD1, CAT, GSTT1
14glutathion469.2CAT, SOD1, GSTM1, GSTP1
15p002469.1GSTM1, MTHFR, MMP3, TIMP2, GSTT1
16hyaluronic acid46 2510.1MMP3, TIMP2, ELN, MMP1, APOE
17sodium azide469.1SOD1, CAT, MMP1, MPO
18gssg469.1GSTP1, SOD1, CAT, GSTM1
19formate469.0APOE, SOD1, ELN, CAT
20pravastatin46 52 30 25 1213.0MMP1, APOE, TIMP2, MMP3, MTHFR
21manganese superoxide468.9SOD1, CAT, GSTM1, GSTT1, GSTP1
22formaldehyde46 259.9MPO, GSTT1, CAT, ELN, MMP1
23malondialdehyde468.9SOD1, CAT, GSTM1, MPO, GSTT1
24methotrexate52 46 1210.8TIMP2, GSTP1, GSTM1, MTHFR, MMP3, MMP1
25guaiacol46 259.7MPO, SOD1, CAT
26cyclophosphamide46 52 1210.7MPO, GSTT1, MTHFR, GSTM1, GSTP1
27paraffin468.6ELN, MMP1, GSTP1, TIMP2, MPO, APOE
28egcg468.6MMP3, TIMP2, SOD1, MMP1, CAT, GSTP1
29folate468.6GSTM1, MTHFR, APOE, GSTT1, GSTP1
30oxaliplatin46 52 1210.5GSTT1, GSTP1, MPO, SOD1, MTHFR, GSTM1
31carboplatin46 52 1210.5MPO, SOD1, MTHFR, GSTM1, GSTP1, GSTT1
32valine468.5MPO, GSTP1, ELN, MTHFR, GSTT1, GSTM1
33vitamin a46 25 1210.5SOD1, APOE, MMP1, GSTM1, ELN, CAT
34dmso468.4SOD1, MPO, GSTP1, MMP3, NUDT6, CAT
35vegf468.4MMP1, MPO, APOE, MMP3, NUDT6, ELN
36testosterone46 62 25 1211.3GSTP1, GSTM1, MTHFR, MMP1, APOE, NUDT6
37alpha tocopherol468.2MMP1, SOD1, MTHFR, CAT, APOE, GSTM1
38arginine468.2ELN, SOD1, APOE, NUDT6, GSTP1, GSTT1
39indomethacin46 30 62 1211.2CAT, APOE, MPO, SOD1, MMP3, MMP1
40retinoic acid46 259.2MPO, ELN, MTHFR, TIMP2, MMP3, MMP1
414-hydroxynonenal46 259.1MMP1, MPO, SOD1, CAT, GSTM1, GSTP1
42betacarotene468.0MMP1, APOE, SOD1, ELN, MTHFR, GSTM1
43estrogen468.0MTHFR, GSTM1, ELN, MMP1, GSTT1, GSTP1
44n acetylcysteine467.9CAT, APOE, MMP1, MMP3, SOD1, ELN
45serine467.6NUDT6, APOE, MPO, TIMP2, MMP1, CHRNA4
46h2o2467.6ELN, MMP1, APOE, SOD1, TIMP2, CAT
47lactate467.5CAT, ELN, MMP1, MMP3, SOD1, TIMP2
48creatinine467.0GSTM1, GSTP1, SOD1, APOE, MPO, GSTT1
49cysteine467.0TIMP2, NUDT6, APOE, SOD1, MMP3, MMP1
50ascorbic acid46 257.6SOD1, TIMP2, MPO, APOE, MMP1, MMP3

GO Terms for genes affiliated with Exfoliation Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:0055789.1MMP3, MMP1, LOXL1, ELN
2extracellular regionGO:0055768.1TIMP2, SOD1, MMP3, MMP1, LOXL1, ELN
3neuronal cell bodyGO:0430258.1CNTNAP2, CHRNA4, SOD1, TIMP2, APOE
4extracellular spaceGO:0056157.9APOE, MPO, TIMP2, SOD1, MMP3, LOXL1

Biological processes related to Exfoliation Syndrome according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1synaptic transmission, cholinergicGO:00727110.0APOE, CHRNA4
2low-density lipoprotein particle remodelingGO:0343749.9MPO, APOE
3glutathione derivative biosynthetic processGO:19016879.9GSTT1, GSTP1, GSTM1
4xenobiotic metabolic processGO:0068059.8GSTM1, GSTT1
5positive regulation of superoxide anion generationGO:0329309.8SOD1, GSTP1
6removal of superoxide radicalsGO:0194309.7SOD1, MPO
7negative regulation of cholesterol biosynthetic processGO:0455419.7SOD1, APOE
8oxidation-reduction processGO:0551149.7GSTT1, LOXL1, MPO
9extracellular matrix disassemblyGO:0226179.6TIMP2, MMP3, MMP1, ELN
10response to reactive oxygen speciesGO:0003029.6GSTP1, CAT, APOE
11agingGO:0075689.6APOE, MPO, TIMP2
12extracellular matrix organizationGO:0301989.4TIMP2, MMP3, MMP1, LOXL1, ELN
13hydrogen peroxide catabolic processGO:0427449.3CAT, MPO
14glutathione metabolic processGO:0067499.3GSTT1, GSTP1, GSTM1, SOD1
15response to hypoxiaGO:0016669.3CAT, MTHFR, CHRNA4
16transmission of nerve impulseGO:0192269.1CNTNAP2, SOD1
17response to drugGO:0424938.9TIMP2, SOD1, LYST, MTHFR, GSTT1
18small molecule metabolic processGO:0442818.4GSTT1, GSTP1, GSTM1, CAT, MTHFR, APOE

Molecular functions related to Exfoliation Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1antioxidant activityGO:0162099.6CAT, APOE
2glutathione transferase activityGO:0043649.3GSTT1, GSTP1, GSTM1

Products for genes affiliated with Exfoliation Syndrome

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  • Antibodies
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Sources for Exfoliation Syndrome

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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