MCID: EXF001
MIFTS: 51

Exfoliation Syndrome malady

Summaries for Exfoliation Syndrome

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 Crosslinking of collagen fibrils and Aflatoxin B1 metabolism. The compounds estrogen and bpde have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and retina, and related mouse phenotype homeostasis/metabolism.

Description from OMIM:46 177650

Aliases & Classifications for Exfoliation Syndrome

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8Disease Ontology, 9diseasecard, 46OMIM, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH, 56SNOMED-CT, 27ICD9CM
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Aliases & Descriptions:

exfoliation syndrome 8 46 10 60
pseudoexfoliation glaucoma 8 44
pseudoexfoliation syndrome 8 44
exfoliation syndrome, susceptibility to 9


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Disease Ontology8 DOID:13641
MeSH34 D017889
SNOMED-CT56 111514006, 44219007
OMIM46 177650
ICD9CM27 365.52

Related Diseases for Exfoliation Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Exfoliation Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 129)
idRelated DiseaseScoreTop Affiliating Genes
1glaucoma31.1LOXL1, TIMP2, NUDT6, GSTP1, ELN
2cataract30.8GSTT1, NUDT6, CAT
3open-angle glaucoma30.5LOXL1, GSTM1, GSTT1, ELN
4hypertension30.4APOE
5primary open angle glaucoma30.3ELN, GSTM1
6senile cataract30.2CAT, GSTM1, GSTT1
7pancreatitis30.2MPO, GSTP1
8hyperhomocysteinemia30.2ELN, APOE
9vascular disease30.0LOX, TIMP2, CAT, APOE, ELN
10abdominal aortic aneurysm29.8APOE
11diabetes mellitus29.8APOE, CAT
12melanoma29.8LOX, TIMP2, CAT, NUDT6, GSTT1
13alzheimer's disease29.8LOX, CAT, APOE, CHRNA4, NUDT6, GSTM1
14retinitis10.3
15ocular hypertension10.2
16retinoschisis10.1
17sensorineural hearing loss10.1
18lattice corneal dystrophy10.0
19bullous keratopathy10.0
20mature cataract10.0
21astigmatism10.0
22corneal dystrophy10.0
23motor neuron disease10.0GSTT1
24ehlers-danlos syndrome10.0ELN
25astrocytoma10.0GSTT1
26psoriasis10.0LOX
27liver cirrhosis10.0LOX
28proliferative diabetic retinopathy10.0TIMP2
29acute pancreatitis10.0MPO
30age related macular degeneration10.0APOE
31cleft palate10.0GSTM1
32inflammatory bowel disease10.0MPO
33esophageal cancer10.0GSTP1
34cleft lip10.0GSTM1
35nephrotic syndrome10.0APOE
36down syndrome10.0APOE
37oral submucous fibrosis10.0LOX
38pituitary tumors10.0NUDT6
39occipital horn syndrome10.0LOX
40graves' disease10.0MPO
41peritonitis10.0MPO
42osteomalacia10.0PHEX
43esophagitis10.0CAT
44galactosemia10.0CAT
45vitiligo10.0CAT
46familial adenomatous polyposis10.0GSTP1
47hepatitis c10.0GSTM1
48amyotrophic lateral sclerosis10.0NUDT6, LOX
49gastritis10.0CAT
50hellp syndrome10.0GSTP1

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



Diseases related to exfoliation syndrome

Clinical Features for Exfoliation Syndrome

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46OMIM
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Clinical features from OMIM:

177650

Clinical synopsis from OMIM:

177650

Drugs & Therapeutics for Exfoliation Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Exfoliation Syndrome

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Genetic Tests for Exfoliation Syndrome

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Anatomical Context for Exfoliation Syndrome

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32MalaCards
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MalaCards organs/tissues related to Exfoliation Syndrome:

32
Eye, Skin, Retina, Lung, Endothelial

Animal Models for Exfoliation Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Exfoliation Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053769.0ELN, GSTT1, LYST, CHRNA4, PHEX, APOE

Publications for Exfoliation Syndrome

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50PubMed
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Articles related to Exfoliation Syndrome:

(show top 50)    (show all 256)
idTitleAuthorsYear
1
Circumferential iris transillumination defects in exfoliation syndrome. (22525123)
2013
2
Prevalence of high-risk alleles in the LOXL1 gene and its association with pseudoexfoliation syndrome and exfoliation glaucoma in a Latin American population. (21970694)
2012
3
LOXL1 promoter haplotypes are associated with exfoliation syndrome in a U.S. Caucasian population. (21212179)
2011
4
Prevalence of exfoliation syndrome in Estonia. (20544671)
2010
5
Exfoliation syndrome in the Reykjavik Eye Study: risk factors for baseline prevalence and 5-year incidence. (19833615)
2010
6
Scanning laser ophthalmoscopic parameters of eyes with exfoliation syndrome. (20700797)
2010
7
Retinal vascular occlusions occur more frequently in the more affected eye in exfoliation syndrome. (19557023)
2010
8
Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population. (19936304)
2009
9
Directed Therapy: An Approach to the Improved Treatment of Exfoliation syndrome. (20142958)
2009
10
Epidemiology of exfoliation syndrome in the Reykjavik Eye Study. (20017735)
2009
11
Exfoliation syndrome: effects of cataract surgery on glaucoma. (19006713)
2008
12
Lysyl oxidase-like 1 gene polymorphisms in Japanese patients with primary open angle glaucoma and exfoliation syndrome. (18636115)
2008
13
Exfoliation syndrome: prevalence and inheritance in a subisolate of the Finnish population. (17655611)
2007
14
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
15
Topical latanoprost causes posterior movement of lens in a patient with exfoliation syndrome and subluxated lens: a case report. (18053229)
2007
16
Exfoliation syndrome as a risk factor for corneal endothelial cell loss in cataract surgery. (18025655)
2007
17
Current concepts in the pathogenesis and management of exfoliation syndrome and exfoliative glaucoma. (16882401)
2006
18
Exfoliation syndrome among Azerbaijani. (12796278)
2003
19
Unilateral exfoliation syndrome: conversion to bilateral exfoliation and to glaucoma: a prospective 10-year follow-up study. (12483098)
2002
20
Evaluation of the clinical association between exfoliation syndrome and abdominal aortic aneurysm. (12485282)
2002
21
Exfoliation syndrome. (11224719)
2001
22
Perspective on exfoliation syndrome. (11890270)
2001
23
Increased aqueous humor basic fibroblast growth factor and hyaluronan levels in relation to the exfoliation syndrome and exfoliative glaucoma. (11782221)
2001
24
Exfoliation syndrome and exfoliation glaucoma. (10749381)
2000
25
Optic disc changes in normotensive persons with unilateral exfoliation syndrome: a 3-year follow-up study. (10379604)
1999
26
Autopsy analysis of clinically unilateral exfoliation syndrome. (9331264)
1997
27
Hyaluronan in the exfoliation syndrome. (9253969)
1997
28
Histopathological and lectin histochemical study of exfoliation syndrome. (8883563)
1996
29
The amount of lens exfoliation and chamber-angle pigmentation in exfoliation syndrome with or without glaucoma. (7493233)
1995
30
Lectin and immunohistochemical comparison of glycoconjugates in the conjunctiva of patients with and without exfoliation syndrome. (7542024)
1995
31
The impact of exfoliation syndrome on therapeutic efficacy in open-angle glaucoma. (10150850)
1995
32
Interocular differences in optic disc configuration in the unilateral exfoliation syndrome. (8079619)
1994
33
Incidence of posterior capsule opacification in eyes with exfoliation syndrome and heparin-surface-modified intraocular lenses. (8501628)
1993
34
Aqueous dynamics in exfoliation syndrome. (1415459)
1992
35
Exfoliation syndrome in patients scheduled for cataract surgery. (1414287)
1992
36
Climatic droplet keratopathy, exfoliation syndrome, and cataract. (1768663)
1991
37
Nanophthalmos in sisters, one with exfoliation syndrome. (2696577)
1989
38
Glycoconjugates in exfoliation syndrome. A lectin histochemical study of the ciliary body and lens. (2763817)
1989
39
Prevalence of exfoliation syndrome in Finland. (2853908)
1988
40
Light microscopy of the exfoliation syndrome. (2853920)
1988
41
Exfoliation syndrome. Sigrid Juselius Foundation international workshop. 29 September-2 October, 1987, Espoo, Finland. Proceedings. (2853903)
1988
42
The relationship between the fluoroangiographic aspect of the optic disk and the visual field in patients with the exfoliation syndrome with and without intraocular hypertension. Part I: Bilateral cases. (2853923)
1988
43
The initial stage of the exfoliation syndrome. (3002107)
1985
44
Evidence for chromosome instability in vivo in Bloom syndrome: increased numbers of micronuclei in exfoliated cells. (4065890)
1985
45
Laser trabeculoplasty in the pseudo-exfoliation syndrome. (6592860)
1983
46
The trabecular meshwork of a non-glaucomatous eye with the exfoliation syndrome. Electronmicroscopic study. (160125)
1979
47
Exfoliation syndrome. (4421811)
1974
48
Light and electron microscopy of the wall of iris vessels in eyes with and without exfoliation syndrome (pseudoexfoliation of the lens capsule). (5309200)
1970
49
Lyell's disease, the Stevens-Johnson Syndrome, and exfoliative dermatitis. (4250164)
1970
50
Four hereditary mucosal syndromes: comparative histology and exfoliative cytology of Darier-White's disease, hereditary benign intraepithelial dyskeratosis, white sponge nevus, and pachyonychia congenita. (14007732)
1961

Genetic Variations for Exfoliation Syndrome

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Expression for genes affiliated with Exfoliation Syndrome

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1BioGPS, 15Gene 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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53Reactome, 37NCBI BioSystems Database, 12EMD Millipore, 49PharmGKB, 29KEGG
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Compounds for genes affiliated with Exfoliation Syndrome

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44Novoseek, 11DrugBank, 59Tocris Bioscience, 28IUPHAR, 49PharmGKB, 24HMDB
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Compounds related to Exfoliation Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 111)
idCompoundScoreTop Affiliating Genes
1estrogen4410.7ELN
2bpde4410.5GSTP1
3alpha tocopherol4410.4GSTM1
4methylchloride4410.3GSTT1, GSTM1, GSTP1
5s-phenylmercapturic acid4410.3GSTT1, GSTM1, GSTP1
6cumene hydroperoxide4410.3GSTP1, GSTT1, GSTM1
71,3-butadiene4410.3GSTM1, GSTT1, GSTP1
8bleomycin44 1111.3LOX, APOE, ELN
9indomethacin44 59 28 1113.3ELN, LOX
10styrene4410.2GSTM1, GSTP1, GSTT1
111-hydroxypyrene4410.2GSTM1, GSTT1, GSTP1
12suramin44 28 1112.2NUDT6, APOE
13trichloroethylene4410.2GSTM1, GSTT1, GSTP1
14chi 24410.2GSTM1, GSTT1, TIMP2
15chlorambucil44 1111.2MGST1, GSTP1
16glutathion4410.2CAT, GSTM1, GSTP1
17(9r,10r)-9-(S-Glutathionyl)-10-Hydroxy-9,10-Dihydrophenanthrene1110.1GSTP1, GSTM1
18oxaliplatin44 49 1112.0GSTP1, GSTM1, MPO, GSTT1
19d penicillamine4410.0CAT, MPO, LOX, ELN
208-oxo-dg4410.0CAT, GSTT1, GSTM1
21cysteamine44 11 2412.0CAT, APOE, MPO
22isoniazid49 44 1112.0CAT, GSTT1, GSTM1
23quinone44 2411.0GSTT1, CAT, LOX, GSTM1
241-chloro-24-dinitrobenzene4410.0GSTT1, GSTP1, GSTM1, MGST1
25noradrenochrome44 2411.0GSTM1, MGST1, GSTT1, GSTP1
26hydrochloric acid44 2411.0GSTT1, GSTM1, MGST1, GSTP1
27adrenochrome44 2411.0GSTP1, MGST1, GSTM1, GSTT1
28benzene4410.0GSTT1, ELN, GSTM1
29carboplatin44 49 1112.0GSTP1, GSTT1, GSTM1, MPO
30gsts449.9GSTP1, GSTT1, GSTM1, MGST1
31Glutathione11 2410.9GSTM1, MGST1, GSTP1, GSTT1
32manganese superoxide449.9CAT, GSTP1, GSTT1, GSTM1
33epoxide449.9GSTM1, GSTP1, MGST1, GSTT1
34malondialdehyde449.9GSTT1, GSTM1, MPO, CAT
35acetone449.9GSTM1, GSTT1, GSTP1
36betacarotene449.9CAT, ELN, APOE, GSTM1
374-aminobenzoic acid hydrazide449.9CAT, MPO
38dmso449.8CAT, MPO, NUDT6, GSTP1, ELN
39dcnb449.8GSTP1, GSTM1
404-hydroxynonenal44 2410.7GSTP1, GSTM1, MPO, APOE, CAT
41paraffin449.6LOX, TIMP2, APOE, MPO, ELN, GSTP1
42n acetylcysteine449.6ELN, GSTP1, MPO, APOE, CAT, LOX
43h2o2449.5LOX, MPO, CAT, ELN, MGST1, TIMP2
44valine449.5APOE, ELN, MPO, GSTM1, GSTT1, GSTP1
45creatinine449.5APOE, GSTM1, ELN, TIMP2, GSTT1, MPO
46lactate449.3CAT, TIMP2, GSTP1, ELN, GSTM1, MPO
47vegf449.2TIMP2, APOE, MGST1, LOX, NUDT6, GSTP1
48arginine449.1ELN, MGST1, GSTP1, APOE, GSTT1, GSTM1
49ascorbic acid44 2410.0GSTM1, ELN, GSTP1, GSTT1, MPO, APOE
50cysteine448.9ELN, GSTP1, GSTM1, MGST1, APOE, CAT

GO Terms for genes affiliated with Exfoliation Syndrome

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16Gene Ontology
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Biological processes related to Exfoliation Syndrome according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1low-density lipoprotein particle remodelingGO:03437410.0MPO, APOE
2response to reactive oxygen speciesGO:0003029.9GSTP1, APOE, CAT
3synaptic transmission, cholinergicGO:0072719.8CHRNA4, APOE
4oxidation-reduction processGO:0551149.8MPO, MGST1, LOXL1
5glutathione derivative biosynthetic processGO:19016879.7GSTP1, GSTT1, GSTM1, MGST1
6glutathione metabolic processGO:0067499.7MGST1, GSTM1, GSTT1, GSTP1
7extracellular matrix organizationGO:0301989.7LOXL1, LOX, TIMP2, ELN
8xenobiotic metabolic processGO:0068059.6MGST1, GSTM1, GSTT1, GSTP1
9response to drugGO:0424939.5LOX, TIMP2, MGST1, LYST, GSTT1

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

idNameGO IDScoreTop Affiliating Genes
1glutathione bindingGO:0432959.6MGST1, GSTM1
2glutathione transferase activityGO:0043649.4GSTP1, GSTT1, GSTM1, MGST1
3enzyme bindingGO:0198999.4GSTM1, AKAP2, CTNNBL1, CAT

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet