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, 46OMIM, 10DISEASES, 60UMLS, 44Novoseek, 9diseasecard, 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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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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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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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
Exfoliation syndrome: new genetic and pathophysiologic insights. (23299249)
2013
2
Serum vitamin D deficiency and its association with systemic disease in exfoliation syndrome. (23564611)
2013
3
Response to the comments of Gatzioufas Z. & Seitz B. on the article entitled: "Ocular response analyser to assess corneal biomechanical properties in exfoliation syndrome and exfoliative glaucoma". (22527323)
2013
4
Exfoliation syndrome in Nigeria. (23248543)
2012
5
Ocular response analyzer to assess corneal biomechanical properties in exfoliation syndrome and exfoliative glaucoma. (21863256)
2012
6
Association of Cogan-Reese syndrome, exfoliation syndrome, and secondary open-angle glaucoma. (22167551)
2012
7
The relationship between diabetes mellitus and exfoliation syndrome in a United States Veterans Affairs population: a case-control study. (20577098)
2011
8
Review: The role of LOXL1 in exfoliation syndrome/glaucoma. (23960948)
2011
9
Geographic and climatic factors associated with exfoliation syndrome. (21825188)
2011
10
Association of LOXL1 gene with Finnish exfoliation syndrome patients. (19343041)
2009
11
Aqueous humor dynamics in exfoliation syndrome. (18625936)
2008
12
LOXL1 variants in elderly Japanese patients with exfoliation syndrome/glaucoma, primary open-angle glaucoma, normal tension glaucoma, and cataract. (18958304)
2008
13
Exfoliation syndrome: beyond glaucoma. (18541854)
2008
14
Exfoliation syndrome and exfoliation glaucoma-associated LOXL1 variations are not involved in pigment dispersion syndrome and pigmentary glaucoma. (18618003)
2008
15
LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States. (18036875)
2007
16
The enigma of exfoliation syndrome. (17655609)
2007
17
24-h IOP control with latanoprost, travoprost, and bimatoprost in subjects with exfoliation syndrome and ocular hypertension. (16543930)
2007
18
Increase of carotid artery stiffness and decrease of baroreflex sensitivity in exfoliation syndrome and glaucoma. (16488931)
2006
19
Early diagnosis of exfoliation syndrome in the offspring of affected patients. (16879573)
2006
20
Survey of genes encoding staphylococcal enterotoxins, toxic shock syndrome toxin 1, and exfoliative toxins in members of the Staphylococcus sciuri group. (16145164)
2005
21
Endothelin-1 concentration is increased in the aqueous humour of patients with exfoliation syndrome. (15031170)
2004
22
Peripapillary atrophy in the unilateral exfoliation syndrome. (14747950)
2004
23
Microvascular blood flow of the optic nerve head and peripapillary retina in unilateral exfoliation syndrome. (14982047)
2004
24
Exfoliation syndrome in black South Africans. (12796260)
2003
25
8-Isoprostaglandin F2a and ascorbic acid concentration in the aqueous humour of patients with exfoliation syndrome. (12598453)
2003
26
Ascorbic acid concentration is reduced in the aqueous humor of patients with exfoliation syndrome. (12470757)
2002
27
Exfoliation syndrome: more than meets the eye. (12390155)
2002
28
Exfoliation syndrome: frequency, gender distribution and association with climatically induced alterations of the cornea and conjunctiva. (12390157)
2002
29
Electron microscopic study on the development of precapsular layer in eyes with exfoliation syndrome. (10698019)
2000
30
Epidemiology of the pseudo-exfoliation syndrome. (10463402)
1999
31
Profiling of the eye aqueous humor in exfoliation syndrome by high-performance liquid chromatographic analysis of hyaluronan and galactosaminoglycans. (9657213)
1998
32
Exfoliation syndrome in a 17-year-old girl. (9258230)
1997
33
Association of toxic shock syndrome toxin-secreting and exfoliative toxin-secreting Staphylococcus aureus with Kawasaki syndrome complicated by coronary artery disease. (9284264)
1997
34
Exfoliation syndrome and occludable angles. (7886885)
1994
35
The HNK-1 epitope in the inner connective tissue layer of the human ciliary body in exfoliation syndrome and various types of glaucoma. (7509767)
1994
36
The cornea in exfoliation syndrome. (1473448)
1992
37
Intraocular pressure in exfoliation syndrome. (2853921)
1988
38
The prevalence of exfoliation syndrome in different areas of France. (2853926)
1988
39
The Middle-Norway eye-screening study. I. Epidemiology of the pseudo-exfoliation syndrome. (3232507)
1988
40
Our experiences in planned extracapsular cataract extraction in the exfoliation syndrome. (2853910)
1988
41
Exfoliation syndrome prevalence in the glaucoma population of South Louisiana. (2853928)
1988
42
Alteration of microfibrils in the conjunctiva of patients with exfoliation syndrome. (3606459)
1987
43
Exfoliation syndrome in enucleated haemorrhagic and absolute glaucoma. (3618156)
1987
44
Influence of exfoliation syndrome on prognosis in ocular hypertension greater than or equal to 25 mm. A long-term follow-up. (3962617)
1986
45
Exfoliation syndrome. (3492068)
1986
46
The iris vessels in the exfoliation syndrome: ultrastructural changes. (4085575)
1985
47
The association of ocular hypertension with the exfoliation syndrome, the pigmentary dispersion syndrome and myopia. (7008227)
1980
48
On the occurrence of pseudo-exfoliation material in extrabulbar tissue from patients with pseudo-exfoliation syndrome of the eye. (4800604)
1973
49
Exfoliation syndrome. (10949594)
1973
50
Pseudoexfoliation of the lens capsule. II. Development of the exfoliation syndrome. (5819822)
1969

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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  • Antibodies
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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