MCID: EXF001
MIFTS: 57

Exfoliation Syndrome malady

Eye diseases category
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Summaries for Exfoliation Syndrome

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Wikipedia:65 Pseudoexfoliation syndrome (other names: Exfoliation glaucoma, Pseudoexfoliation glaucoma,... more...

MalaCards based summary: Exfoliation Syndrome, also known as pseudoexfoliation glaucoma, is related to primary open angle glaucoma and open-angle glaucoma, and has symptoms including 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:46 177650

Aliases & Classifications for Exfoliation Syndrome

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Exfoliation Syndrome, Aliases & Descriptions:

Name: Exfoliation Syndrome 8 46 10 62
Pseudoexfoliation Glaucoma 8 44 62
Pseudoexfoliation Syndrome 8 44
 
Exfoliation Syndrome, Susceptibility to 9
Pseudo-Exfoliation Syndrome 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:13641
OMIM46 177650
SNOMED-CT57 111514006, 44219007
MeSH34 D017889
ICD9CM27 365.52

Related Diseases for Exfoliation Syndrome

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

(show top 50)    (show all 125)
idRelated DiseaseScoreTop Affiliating Genes
1primary open angle glaucoma31.0ELN, GSTM1
2open-angle glaucoma30.8GSTT1, GSTM1, ELN, MMP1, LOXL1
3cataract30.6MMP3, CAT, NUDT6, SOD1, GSTT1
4aneurysm30.4ELN, MMP3, TIMP2
5abdominal aortic aneurysm30.3APOE
6vascular disease30.3TIMP2, MMP3, ELN, CAT
7pancreatitis30.2GSTP1, MPO, SOD1
8senile cataract30.1GSTT1, CAT, SOD1, GSTM1
9hyperhomocysteinemia29.9APOE, ELN, MTHFR, SOD1
10melanoma29.7GSTT1, CAT, TIMP2, NUDT6, MMP1
11diabetes mellitus29.2APOE, MMP3, MTHFR, SOD1, CAT
12alzheimer's disease28.9NUDT6, SOD1, CHRNA4, CAT, GSTM1, GSTP1
13moyamoya disease10.5NUDT6
14rheumatic congestive heart failure10.5TIMP2
15aortic disease10.5APOE
16oral submucous fibrosis10.5MMP1
17focal epilepsy10.4CHRNA4
18cerebral aneurysms10.4TIMP2, ELN
19fibromatosis10.4TIMP2
20brain cancer10.4GSTT1, GSTM1
21eclampsia10.4MTHFR
22asbestosis10.4GSTM1, GSTT1
23diabetic cataract10.4CAT
24thoracic aortic aneurysm10.4ELN, MMP1
25epidermolysis bullosa dystrophica10.4MMP1, MMP3
26lung cancer10.4GSTM1, GSTP1
27myelomeningocele10.3MTHFR
28hypertension10.3
29retinitis10.3
30toxic encephalopathy10.3CAT, CHRNA4
31hypertrophic scars10.3MMP1, ELN, NUDT6
32acute myeloid leukemia, adult10.3GSTM1, GSTT1
33oral lichen planus10.3TIMP2, MMP1
34gingival overgrowth10.3MMP3, MMP1, NUDT6
35pulmonary emphysema10.3TIMP2, MMP1, ELN
36chediak-higashi syndrome10.3LYST, MPO
37keloids10.3TIMP2, ELN, MMP1
38hypermethioninemia10.3SOD1
39laryngeal benign neoplasm10.3GSTP1, GSTT1, GSTM1
40conjunctivochalasis10.3MMP3, MMP1, TIMP2
41myeloperoxidase deficiency10.3MPO, CAT
42nasopharynx carcinoma10.3GSTT1, GSTM1, MMP3
43leukoplakia10.3GSTT1, GSTM1
44ocular hypertension10.3
45bladder carcinoma10.3GSTP1, TIMP2, NUDT6
46homocysteinemia10.3ELN, MTHFR
47laryngeal squamous cell carcinoma10.2MMP1, GSTT1, GSTM1
48gastric adenocarcinoma10.2GSTM1, TIMP2, GSTT1
49synovitis10.2MMP1, MMP3, TIMP2
50squamous cell carcinoma of the head and neck10.2GSTP1, GSTM1, GSTT1

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



Diseases related to exfoliation syndrome

Symptoms for Exfoliation Syndrome

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Symptoms by clinical synopsis from OMIM:

177650

Clinical features from OMIM:

177650

HPO human phenotypes related to Exfoliation Syndrome:

(show all 8)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 glaucoma HP:0000501
3 lens subluxation HP:0001132
4 anisocoria HP:0009916
5 phacodonesis HP:0012629
6 pigment deposition in the trabecular meshwork HP:0012631
7 asymmetry of intraocular pressure HP:0012633
8 retinal vein occlusion HP:0012636

Drugs & Therapeutics for Exfoliation Syndrome

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Drug clinical trials:

Search ClinicalTrials for Exfoliation Syndrome

Search NIH Clinical Center for Exfoliation Syndrome

Genetic Tests for Exfoliation Syndrome

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Anatomical Context for Exfoliation Syndrome

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MalaCards organs/tissues related to Exfoliation Syndrome:

32
Eye, Retina, Endothelial

Animal Models for Exfoliation Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Exfoliation Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053877.7LYST, APOE, MPO, TIMP2, SOD1, MMP3
2MP:00107717.4CHRNA4, GSTP1, CNTNAP2, MTHFR, LYST, LOXL1
3MP:00036316.7CNTNAP2, MTHFR, LYST, CHRNA4, MMP3, SOD1
4MP:00053765.9GSTT1, APOE, MPO, TIMP2, SOD1, MMP3

Publications for Exfoliation Syndrome

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Articles related to Exfoliation Syndrome:

(show top 50)    (show all 251)
idTitleAuthorsYear
1
Systemic diseases associated with exfoliation syndrome. (25171641)
2014
2
Oxidative stress in dry age-related macular degeneration and exfoliation syndrome. (25319011)
2014
3
Solar Exposure and Residential Geographic History in Relation to Exfoliation Syndrome in the United States and Israel. (25188364)
2014
4
Circumferential iris transillumination defects in exfoliation syndrome. (22525123)
2013
5
Exfoliation syndrome: new genetic and pathophysiologic insights. (23299249)
2013
6
Serum vitamin D deficiency and its association with systemic disease in exfoliation syndrome. (23564611)
2013
7
Evaluation of LOXL1 polymorphisms in exfoliation syndrome in the Uygur population. (21738402)
2011
8
The relationship between diabetes mellitus and exfoliation syndrome in a United States Veterans Affairs population: a case-control study. (20577098)
2011
9
Review: The role of LOXL1 in exfoliation syndrome/glaucoma. (23960948)
2011
10
Association of lysyl oxidase-like 1 gene polymorphisms with exfoliation syndrome in Koreans. (22128228)
2011
11
Prevalence of exfoliation syndrome in Estonia. (20544671)
2010
12
Exfoliation syndrome in the Reykjavik Eye Study: risk factors for baseline prevalence and 5-year incidence. (19833615)
2010
13
Optic nerve head topography in nonglaucomatous, normotensive patients with unilateral exfoliation syndrome. (19242717)
2009
14
Evaluation of MMP1 and MMP3 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma. (20038976)
2009
15
Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population. (19936304)
2009
16
Biometric characteristics of eyes with exfoliation syndrome and occludable as well as open angles and eyes with primary open-angle glaucoma. (19169317)
2009
17
Antioxidant status in the aqueous humour of patients with glaucoma associated with exfoliation syndrome. (19023334)
2009
18
Directed Therapy: An Approach to the Improved Treatment of Exfoliation syndrome. (20142958)
2009
19
Prooxidant-antioxidant balance, peroxide and catalase activity in the aqueous humour and serum of patients with exfoliation syndrome or exfoliative glaucoma. (18607617)
2008
20
Noncontact in vivo confocal laser scanning microscopy of exfoliation syndrome. (19277220)
2008
21
Intraocular pressure elevation within the first 24 hours after cataract surgery in patients with glaucoma or exfoliation syndrome. (17561259)
2008
22
Exfoliation syndrome: prevalence and inheritance in a subisolate of the Finnish population. (17655611)
2007
23
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
24
Ultrasound biomicroscopic assessment of zonular appearance in exfoliation syndrome. (17590201)
2007
25
Exfoliation syndrome in Nordic countries: a comparative histopathological study of Danish and Finnish eyes with absolute glaucoma and uveal melanoma. (16396649)
2005
26
Endothelin-1 concentration is increased in the aqueous humour of patients with exfoliation syndrome. (15031170)
2004
27
John G. Lindberg and the discovery of exfoliation syndrome. (11952480)
2002
28
Matrix metalloproteinases and their inhibitors in exfoliation syndrome. (12097800)
2002
29
Ascorbic acid concentration is reduced in the aqueous humor of patients with exfoliation syndrome. (12470757)
2002
30
Changes in visual acuity and refraction in the exfoliation syndrome. A five-year follow-up study. (11681503)
2001
31
Exfoliation syndrome as a risk factor for cataract development: five-year follow-up of lens opacities in exfoliation syndrome. (11738916)
2001
32
Electron microscopic study on the development of precapsular layer in eyes with exfoliation syndrome. (10698019)
2000
33
Other aspects of exfoliation syndrome. (9292658)
1997
34
Pseudo-exfoliation syndrome in Chivi District: a disease with no geographical or racial boundaries. (9431761)
1997
35
Exfoliation syndrome in a 17-year-old girl. (9258230)
1997
36
Interocular differences in optic disc configuration in the unilateral exfoliation syndrome. (8079619)
1994
37
Exfoliation syndrome and occludable angles. (7886885)
1994
38
Exfoliation syndrome and cataract extraction. (8116767)
1994
39
Climatic droplet keratopathy, exfoliation syndrome, and cataract. (1768663)
1991
40
Fibrinoid reaction after extracapsular cataract extraction and relationship to exfoliation syndrome. (2810086)
1989
41
Exfoliation syndrome. Prevalence in a southeastern United States population. (3345150)
1988
42
Prevalence of exfoliation syndrome in Finland. (2853908)
1988
43
Prevalence of exfoliation syndrome in the Japanese. (2853906)
1988
44
The ultrastructural changes in the exfoliation syndrome. (2853916)
1988
45
Light microscopy of the exfoliation syndrome. (2853920)
1988
46
Cataracts in the exfoliation syndrome (fibrillopathia epitheliocapsularis). (6964284)
1982
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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Clinvar genetic disease variations for Exfoliation Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1LTBP2NM_000428.2(LTBP2): c.1295C> T (p.Pro432Leu)single nucleotide variantLikely pathogenicrs137854861GRCh37Chr 14, 75018994: 75018994
2LTBP2NM_000428.2(LTBP2): c.1999A> C (p.Ile667Leu)single nucleotide variantLikely pathogenicrs137854859GRCh37Chr 14, 74995814: 74995814
3LTBP2NM_000428.2(LTBP2): c.4699A> G (p.Met1567Val)single nucleotide variantLikely pathogenicrs137854864GRCh37Chr 14, 74970193: 74970193

Expression for genes affiliated with Exfoliation Syndrome

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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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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 I37
glutathione redox reactions I37
glutathione redox reactions II37
4-hydroxy-2-nonenal detoxification37
Glutathione metabolism60
Glutathione metabolism37
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 pathway37
8.5MPO, SOD1, MTHFR, CAT
138.3APOE, SOD1, CNTNAP2, GSTP1
14
Show member pathways
Vitamin B12 Metabolism37
8.1APOE, MPO, SOD1, MTHFR, CAT

Compounds for genes affiliated with Exfoliation Syndrome

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Compounds related to Exfoliation Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 248)
idCompoundScoreTop Affiliating Genes
1methylchloride4410.0GSTT1, GSTP1, GSTM1
2s-phenylmercapturic acid449.9GSTP1, GSTM1, GSTT1
3cumene hydroperoxide449.8GSTT1, GSTP1, GSTM1
4(4-aminophenyl)mercuric acetate449.8TIMP2, ELN, MMP1, MMP3
51,3-butadiene449.7GSTP1, GSTM1, GSTT1
6latanoprost44 1110.6MMP1, MMP3, TIMP2
7chi 2449.5GSTT1, TIMP2, GSTM1, MTHFR
8doxycycline44 1110.5GSTP1, ELN, MMP1, NUDT6, MMP3
9adrenochrome44 2410.4GSTT1, GSTP1, GSTM1, SOD1
10n-(2-mercaptopropionyl)glycine449.3SOD1, MPO, CAT
11gsts449.3MTHFR, GSTM1, GSTP1, GSTT1
12oxypurinol449.3SOD1, MPO, CAT
138-oxo-dg449.2GSTM1, SOD1, CAT, GSTT1
14glutathion449.2CAT, SOD1, GSTM1, GSTP1
15p002449.1GSTM1, MTHFR, MMP3, TIMP2, GSTT1
16hyaluronic acid44 2410.1MMP3, TIMP2, ELN, MMP1, APOE
17sodium azide449.1SOD1, CAT, MMP1, MPO
18gssg449.1GSTP1, SOD1, CAT, GSTM1
19formate449.0APOE, SOD1, ELN, CAT
20pravastatin44 50 28 24 1113.0MMP1, APOE, TIMP2, MMP3, MTHFR
21manganese superoxide448.9SOD1, CAT, GSTM1, GSTT1, GSTP1
22formaldehyde44 249.9MPO, GSTT1, CAT, ELN, MMP1
23malondialdehyde448.9SOD1, CAT, GSTM1, MPO, GSTT1
24methotrexate50 44 1110.8TIMP2, GSTP1, GSTM1, MTHFR, MMP3, MMP1
25guaiacol44 249.7MPO, SOD1, CAT
26cyclophosphamide44 50 1110.7MPO, GSTT1, MTHFR, GSTM1, GSTP1
27paraffin448.6ELN, MMP1, GSTP1, TIMP2, MPO, APOE
28egcg448.6MMP3, TIMP2, SOD1, MMP1, CAT, GSTP1
29folate448.6GSTM1, MTHFR, APOE, GSTT1, GSTP1
30oxaliplatin44 50 1110.5GSTT1, GSTP1, MPO, SOD1, MTHFR, GSTM1
31carboplatin44 50 1110.5MPO, SOD1, MTHFR, GSTM1, GSTP1, GSTT1
32valine448.5MPO, GSTP1, ELN, MTHFR, GSTT1, GSTM1
33vitamin a44 24 1110.5SOD1, APOE, MMP1, GSTM1, ELN, CAT
34dmso448.4SOD1, MPO, GSTP1, MMP3, NUDT6, CAT
35vegf448.4MMP1, MPO, APOE, MMP3, NUDT6, ELN
36testosterone44 61 24 1111.3GSTP1, GSTM1, MTHFR, MMP1, APOE, NUDT6
37alpha tocopherol448.2MMP1, SOD1, MTHFR, CAT, APOE, GSTM1
38arginine448.2ELN, SOD1, APOE, NUDT6, GSTP1, GSTT1
39indomethacin44 28 61 1111.2CAT, APOE, MPO, SOD1, MMP3, MMP1
40retinoic acid44 249.2MPO, ELN, MTHFR, TIMP2, MMP3, MMP1
414-hydroxynonenal44 249.1MMP1, MPO, SOD1, CAT, GSTM1, GSTP1
42betacarotene448.0MMP1, APOE, SOD1, ELN, MTHFR, GSTM1
43estrogen448.0MTHFR, GSTM1, ELN, MMP1, GSTT1, GSTP1
44n acetylcysteine447.9CAT, APOE, MMP1, MMP3, SOD1, ELN
45serine447.6NUDT6, APOE, MPO, TIMP2, MMP1, CHRNA4
46h2o2447.6ELN, MMP1, APOE, SOD1, TIMP2, CAT
47lactate447.5CAT, ELN, MMP1, MMP3, SOD1, TIMP2
48creatinine447.0GSTM1, GSTP1, SOD1, APOE, MPO, GSTT1
49cysteine447.0TIMP2, NUDT6, APOE, SOD1, MMP3, MMP1
50ascorbic acid44 247.6SOD1, TIMP2, MPO, APOE, MMP1, MMP3

GO Terms for genes affiliated with Exfoliation Syndrome

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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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Sources for Exfoliation Syndrome

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet