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MCID: EXF001
MIFTS: 47

Exfoliation Syndrome malady
1 symptom, 26 genes, 3 tissues, 135 related diseases, clinical trials.

Summaries for Exfoliation Syndrome

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64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Pseudoexfoliation syndrome, (other names: Exfoliation glaucoma, Pseudoexfoliation glaucoma,... more...

MalaCards: Exfoliation Syndrome, also known as pseudoexfoliation glaucoma, is related to primary open angle glaucoma and hyperhomocysteinemia. 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 retina, b cells and endothelial, and related mouse phenotype homeostasis/metabolism.

Description from OMIM:47 177650

Aliases & Classifications for Exfoliation Syndrome

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8Disease Ontology, 47OMIM, 10DISEASES, 61UMLS, 45Novoseek, 9diseasecard, 35MeSH, 57SNOMED-CT, 27ICD9CM
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Aliases & Descriptions:

exfoliation syndrome 8 47 10 61
pseudoexfoliation glaucoma 8 45
pseudoexfoliation syndrome 8 45
exfoliation syndrome, susceptibility to 9


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Disease Ontology8 DOID:13641
MeSH35 D017889
SNOMED-CT57 111514006, 44219007
OMIM47 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 135)
idRelated DiseaseScoreTop Affiliating Genes
1primary open angle glaucoma30.4ELN, GSTM1
2hyperhomocysteinemia30.2ELN, APOE
3vascular disease30.1LOX, TIMP2, CAT, APOE, ELN
4abdominal aortic aneurysm29.9APOE
5alzheimer's disease29.8LOX, CAT, APOE, CHRNA4, NUDT6, GSTM1
6n syndrome10.5
7micro syndrome10.5
8ocular hypertension10.2
9german syndrome10.2
10char syndrome10.2
11cataract-glaucoma10.2
12h. pylori infection10.1
13sensorineural hearing loss10.1
14bod syndrome10.1
15pigment-dispersion syndrome10.1
16lattice corneal dystrophy10.0
17bullous keratopathy10.0
18mature cataract10.0
19astigmatism10.0
20motor neuron disease10.0GSTT1
21ehlers-danlos syndrome10.0ELN
22astrocytoma10.0GSTT1
23psoriasis10.0LOX
24liver cirrhosis10.0LOX
25proliferative diabetic retinopathy10.0TIMP2
26acute pancreatitis10.0MPO
27age related macular degeneration10.0APOE
28cleft palate10.0GSTM1
29inflammatory bowel disease10.0MPO
30hypertension10.0APOE
31esophageal cancer10.0GSTP1
32nephrotic syndrome10.0APOE
33cleft lip10.0GSTM1
34down syndrome10.0APOE
35oral submucous fibrosis10.0LOX
36pituitary tumors10.0NUDT6
37occipital horn syndrome10.0LOX
38graves' disease10.0MPO
39osteomalacia10.0PHEX
40peritonitis10.0MPO
41esophagitis10.0CAT
42galactosemia10.0CAT
43vitiligo10.0CAT
44familial adenomatous polyposis10.0GSTP1
45hepatitis c10.0GSTM1
46amyotrophic lateral sclerosis10.0NUDT6, LOX
47skin cancer10.0CAT
48gastritis10.0CAT
49hellp syndrome10.0GSTP1
50hepatitis b10.0GSTT1

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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47OMIM
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Clinical features from OMIM:

177650

Clinical synopsis from OMIM:

177650

Drugs & Therapeutics for Exfoliation Syndrome

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Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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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33MalaCards
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MalaCards organs/tissues related to Exfoliation Syndrome:

33
Retina, B cells, Endothelial

Animal Models for Exfoliation Syndrome or affiliated genes

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37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Exfoliation Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1
homeostasis/metabolism phenotype
MP:00053769.0ELN, GSTT1, LYST, CHRNA4, PHEX, APOE

Publications for Exfoliation Syndrome

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51PubMed
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Articles related to Exfoliation Syndrome:

(show top 50)    (show all 236)
idTitleAuthorsYear
1
Clinical characteristics and surgical outcomes of phacoemulsification in true exfoliation syndrome. (24238944)
2014
2
Evaluation of LOXL1 polymorphisms in exfoliation syndrome in the Uygur population. (21738402)
2011
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
Evaluation of MMP1 and MMP3 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma. (20038976)
2009
6
Antioxidant status in the aqueous humour of patients with glaucoma associated with exfoliation syndrome. (19023334)
2009
7
Detection of early glaucomatous damage in pseudo exfoliation syndrome by assessment of retinal nerve fiber layer thickness. (20142981)
2009
8
Exfoliation syndrome: effects of cataract surgery on glaucoma. (19006713)
2008
9
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
10
Effect of bimatoprost on intraocular pressure after phacoemulsification in eyes with exfoliation syndrome. (17488454)
2007
11
Early diagnosis of exfoliation syndrome in the offspring of affected patients. (16879573)
2006
12
Exfoliation syndrome in Nordic countries: a comparative histopathological study of Danish and Finnish eyes with absolute glaucoma and uveal melanoma. (16396649)
2005
13
Cumulative incidence of converting from clinically unilateral to bilateral exfoliation syndrome. (15118459)
2004
14
Exfoliation syndrome: more than meets the eye. (12390155)
2002
15
Ultrasound biomicroscopic classification of zonules in exfoliation syndrome. (12457908)
2002
16
Evaluation of the clinical association between exfoliation syndrome and abdominal aortic aneurysm. (12485282)
2002
17
Exfoliation syndrome. (11224719)
2001
18
Perspective on exfoliation syndrome. (11890270)
2001
19
Corneal thickness and corneal endothelium in normotensive subjects with unilateral exfoliation syndrome. (11011685)
2000
20
Optic disc changes in normotensive persons with unilateral exfoliation syndrome: a 3-year follow-up study. (10379604)
1999
21
Pseudo-exfoliation syndrome in Chivi District: a disease with no geographical or racial boundaries. (9431761)
1997
22
Autopsy analysis of clinically unilateral exfoliation syndrome. (9331264)
1997
23
Exfoliation syndrome and phacoemulsification. (9100119)
1997
24
Frequency of exfoliation syndrome in Greek cataract patients. (8950398)
1996
25
The amount of lens exfoliation and chamber-angle pigmentation in exfoliation syndrome with or without glaucoma. (7493233)
1995
26
Interocular differences in optic disc configuration in the unilateral exfoliation syndrome. (8079619)
1994
27
Exfoliation syndrome and cataract extraction. (8116767)
1994
28
Co-existence of exfoliation syndrome, previous iris surgery, and heterochromia. (8154266)
1993
29
Exfoliation syndrome and the effect of phenylephrine and pilocarpine on pupil size. (8333261)
1993
30
Exfoliation syndrome after cataract extraction. (1565458)
1992
31
Iris vasculopathy in exfoliation syndrome. An immunocytochemical study. (1750316)
1991
32
Nanophthalmos in sisters, one with exfoliation syndrome. (2696577)
1989
33
Glycoconjugates in exfoliation syndrome. A lectin histochemical study of the ciliary body and lens. (2763817)
1989
34
Exfoliation syndrome. Prevalence in a southeastern United States population. (3345150)
1988
35
The ultrastructural changes in the exfoliation syndrome. (2853916)
1988
36
Exfoliation syndrome. Sigrid Juselius Foundation international workshop. 29 September-2 October, 1987, Espoo, Finland. Proceedings. (2853903)
1988
37
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
38
Exfoliation syndrome in various ethnic populations. (2853925)
1988
39
Clinical experience of exfoliation syndrome. (3241438)
1988
40
The Middle-Norway eye-screening study. I. Epidemiology of the pseudo-exfoliation syndrome. (3232507)
1988
41
Capsule thickness of cataractous lenses with and without exfoliation syndrome. (3661144)
1987
42
Anterior chamber angle in the exfoliation syndrome. (3966996)
1985
43
Laser trabeculoplasty in the exfoliation syndrome. (6575844)
1983
44
Intraocular pressure status in 100 consecutive patients with exfoliation syndrome. (7088504)
1982
45
The trabecular meshwork of a non-glaucomatous eye with the exfoliation syndrome. Electronmicroscopic study. (160125)
1979
46
The exfoliation syndrome. (4825062)
1974
47
Light and electron microscopy of the anterior iris surface in eyes with and without pseudo-exfoliation syndrome. (4543234)
1973
48
Prevalence of pseudo-exfoliation syndrome in an urban South African clinic population. (5075128)
1972
49
Electron microscopy of the trabecular meshwork in eyes with exfoliation syndrome. (Pseudoexfoliation of the lens capsule). (5315310)
1971
50
Light and electron microscopy of the wall of iris vessels in eyes with and without exfoliation syndrome (pseudoexfoliation of the lens capsule). (5309200)
1970

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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54Reactome, 38NCBI BioSystems Database, 12EMD Millipore, 50PharmGKB, 30KEGG
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Pathways related to Exfoliation Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Crosslinking of collagen fibrils54
10.1LOX, LOXL1
2
Aflatoxin B1 metabolism38
10.1GSTM1, GSTT1
3
Elastic fibre formation54
Hide members
9.9ELN, LOX, LOXL1
4
Naphthalene metabolism
Hide members
9.9GSTP1, GSTT1, GSTM1
5
Etoposide Pathway, Pharmacokinetics/Pharmacodynamics50
9.9MPO, GSTT1, GSTP1
6
Platinum Pathway, Pharmacokinetics/Pharmacodynamics50
9.7GSTP1, GSTT1, GSTM1, MPO
7
Drug metabolism - cytochrome P45030
Hide members
9.5MGST1, GSTM1, GSTT1, GSTP1
8
Glutathione metabolism
Hide members
9.5GSTP1, GSTT1, GSTM1, MGST1
9
Biological oxidations54
Hide members
9.5GSTP1, GSTT1, GSTM1, MGST1

Compounds for genes affiliated with Exfoliation Syndrome

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45Novoseek, 11DrugBank, 60Tocris Bioscience, 29IUPHAR, 50PharmGKB, 24HMDB
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Compounds related to Exfoliation Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 111)
idCompoundScoreTop Affiliating Genes
1estrogen4510.7ELN
2bpde4510.5GSTP1
3alpha tocopherol4510.4GSTM1
4methylchloride4510.3GSTP1, GSTT1, GSTM1
5s-phenylmercapturic acid4510.3GSTP1, GSTT1, GSTM1
61,3-butadiene4510.3GSTM1, GSTT1, GSTP1
7cumene hydroperoxide4510.3GSTM1, GSTT1, GSTP1
8bleomycin45 1111.3ELN, APOE, LOX
9indomethacin45 60 29 1113.3ELN, LOX
10styrene4510.2GSTM1, GSTT1, GSTP1
111-hydroxypyrene4510.2GSTM1, GSTT1, GSTP1
12suramin45 29 1112.2NUDT6, APOE
13trichloroethylene4510.2GSTM1, GSTT1, GSTP1
14chi 24510.2TIMP2, GSTM1, GSTT1
15chlorambucil45 1111.2MGST1, GSTP1
16glutathion4510.2GSTP1, GSTM1, CAT
17(9r,10r)-9-(S-Glutathionyl)-10-Hydroxy-9,10-Dihydrophenanthrene1110.1GSTM1, GSTP1
18oxaliplatin45 50 1112.0MPO, GSTM1, GSTT1, GSTP1
19d penicillamine4510.0LOX, CAT, MPO, ELN
208-oxo-dg4510.0GSTT1, GSTM1, CAT
21cysteamine45 11 2412.0CAT, APOE, MPO
22isoniazid50 45 1112.0CAT, GSTM1, GSTT1
23quinone45 2411.0LOX, CAT, GSTM1, GSTT1
241-chloro-24-dinitrobenzene4510.0MGST1, GSTM1, GSTT1, GSTP1
25noradrenochrome45 2411.0MGST1, GSTM1, GSTT1, GSTP1
26hydrochloric acid45 2411.0MGST1, GSTM1, GSTT1, GSTP1
27adrenochrome45 2411.0MGST1, GSTM1, GSTT1, GSTP1
28benzene4510.0GSTM1, GSTT1, ELN
29carboplatin45 50 1112.0MPO, GSTM1, GSTT1, GSTP1
30gsts459.9MGST1, GSTM1, GSTT1, GSTP1
31manganese superoxide459.9CAT, GSTM1, GSTT1, GSTP1
32Glutathione11 2410.9MGST1, GSTM1, GSTT1, GSTP1
33epoxide459.9MGST1, GSTM1, GSTT1, GSTP1
34malondialdehyde459.9GSTT1, GSTM1, MPO, CAT
35acetone459.9GSTP1, GSTT1, GSTM1
36betacarotene459.9CAT, APOE, GSTM1, ELN
374-aminobenzoic acid hydrazide459.9CAT, MPO
38dmso459.8CAT, MPO, NUDT6, GSTP1, ELN
39dcnb459.8GSTM1, GSTP1
404-hydroxynonenal45 2410.7CAT, APOE, MPO, GSTM1, GSTP1
41paraffin459.6LOX, TIMP2, APOE, MPO, GSTP1, ELN
42n acetylcysteine459.6LOX, CAT, APOE, MPO, GSTP1, ELN
43h2o2459.5LOX, TIMP2, CAT, MGST1, MPO, ELN
44valine459.5LOX, APOE, MPO, GSTM1, GSTT1, GSTP1
45creatinine459.5TIMP2, APOE, MPO, GSTM1, GSTT1, GSTP1
46lactate459.3LOX, TIMP2, CAT, MPO, NUDT6, GSTM1
47vegf459.2LOX, TIMP2, APOE, MGST1, MPO, NUDT6
48arginine459.1APOE, MGST1, NUDT6, LYST, GSTM1, GSTT1
49ascorbic acid45 2410.0ELN, LOX, TIMP2, CAT, APOE, MPO
50cysteine458.9LOX, TIMP2, CAT, APOE, MGST1, NUDT6

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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  • Antibodies
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  • Antibodies

Sources for Exfoliation Syndrome

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3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet
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