MCID: EXF001
MIFTS: 51

Exfoliation Syndrome malady

Genetic diseases (common) category

Aliases & Classifications for Exfoliation Syndrome

About this section

Exfoliation Syndrome, Aliases & Descriptions:

Name: Exfoliation Syndrome 45 9 11 60
Pseudoexfoliation Glaucoma 9 43
 
Pseudoexfoliation Syndrome 9 43
Exfoliation Syndrome, Susceptibility to 10


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 177650
Disease Ontology9 DOID:13641
SNOMED-CT55 111514006, 44219007
MeSH33 D017889
ICD9CM27 365.52

Summaries for Exfoliation Syndrome

About this section


OMIM:45 Exfoliation syndrome (XFS) is a common age-related disorder of the extracellular matrix that is frequently associated... (177650) more...

MalaCards based summary: Exfoliation Syndrome, also known as pseudoexfoliation glaucoma, is related to open-angle glaucoma and cataract, and has symptoms including autosomal dominant inheritance, glaucoma and lens subluxation. 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 testes, and related mouse phenotypes are immune system and integument.

Wikipedia:63 Pseudoexfoliation syndrome (other names: Exfoliation glaucoma, Pseudoexfoliation glaucoma,... more...

Related Diseases for Exfoliation Syndrome

About this section

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

(show top 50)    (show all 127)
idRelated DiseaseScoreTop Affiliating Genes
1open-angle glaucoma30.8MMP1, LOXL1, ELN, GSTM1, GSTT1
2cataract30.6NUDT6, SOD1, MMP3, CAT, GSTT1
3aneurysm30.4TIMP2, MMP3, ELN
4abdominal aortic aneurysm30.3APOE
5vascular disease30.3TIMP2, MMP3, ELN, CAT
6pancreatitis30.2GSTP1, SOD1, MPO
7senile cataract30.1SOD1, CAT, GSTM1, GSTT1
8hyperhomocysteinemia29.9APOE, SOD1, ELN, MTHFR
9melanoma29.7NUDT6, TIMP2, MMP1, CAT, GSTT1
10rheumatic heart disease10.5TIMP2
11moyamoya disease10.5NUDT6
12aortic disease10.5APOE
13oral submucous fibrosis10.5MMP1
14focal epilepsy10.4CHRNA4
15cerebral aneurysms10.4TIMP2, ELN
16brain cancer10.4GSTM1, GSTT1
17fibromatosis10.4TIMP2
18eclampsia10.4MTHFR
19asbestosis10.4GSTM1, GSTT1
20diabetic cataract10.4CAT
21thoracic aortic aneurysm10.4MMP1, ELN
22glaucoma 1, open angle, e10.4ELN, GSTM1
23lung cancer10.4GSTP1, GSTM1
24epidermolysis bullosa dystrophica10.4MMP3, MMP1
25mismatch repair cancer syndrome10.3GSTM1, GSTT1
26retinitis10.3
27myelomeningocele10.3MTHFR
28chronic ulcer of skin10.3TIMP2, MMP1
29toxic encephalopathy10.3CAT, CHRNA4
30hypertrophic scars10.3ELN, MMP1, NUDT6
31oral lichen planus10.3TIMP2, MMP1
32acute myeloid leukemia, adult10.3GSTM1, GSTT1
33gingival overgrowth10.3MMP1, MMP3, NUDT6
34pulmonary emphysema10.3TIMP2, MMP1, ELN
35chediak-higashi syndrome10.3MPO, LYST
36keloids10.3TIMP2, MMP1, ELN
37laryngeal carcinoma10.3GSTT1, GSTP1, GSTM1
38hypermethioninemia10.3SOD1
39myeloperoxidase deficiency10.3MPO, CAT
40conjunctivochalasis10.3MMP1, MMP3, TIMP2
41nasopharyngeal carcinoma10.3MMP3, GSTM1, GSTT1
42ocular hypertension10.3
43leukoplakia10.3GSTT1, GSTM1
44homocysteinemia10.3MTHFR, ELN
45bladder cancer, somatic10.2NUDT6, TIMP2, GSTP1
46laryngeal squamous cell carcinoma10.2GSTT1, GSTM1, MMP1
47gastric adenocarcinoma10.2GSTT1, GSTM1, TIMP2
48synovitis10.2TIMP2, MMP3, MMP1
49squamous cell carcinoma, head and neck10.2GSTT1, GSTP1, GSTM1
50periodontal disease10.2MMP1, MMP3, TIMP2

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



Diseases related to exfoliation syndrome

Symptoms for Exfoliation Syndrome

About this section

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

About this section

Drug clinical trials:

Search ClinicalTrials for Exfoliation Syndrome

Search NIH Clinical Center for Exfoliation Syndrome

Genetic Tests for Exfoliation Syndrome

About this section

Anatomical Context for Exfoliation Syndrome

About this section

MalaCards organs/tissues related to Exfoliation Syndrome:

31
Eye, Retina, Testes, Endothelial

Animal Models for Exfoliation Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Exfoliation Syndrome:

35
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

About this section

Articles related to Exfoliation Syndrome:

(show top 50)    (show all 256)
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
Proceedings of the 20th Annual Think Tank: "Exfoliation Syndrome: What We Know and Where We Need To Go" September 19-21, 2013 New York, NY. (25834846)
2014
5
Circumferential iris transillumination defects in exfoliation syndrome. (22525123)
2013
6
Exfoliation syndrome: new genetic and pathophysiologic insights. (23299249)
2013
7
Serum vitamin D deficiency and its association with systemic disease in exfoliation syndrome. (23564611)
2013
8
Evaluation of LOXL1 polymorphisms in exfoliation syndrome in the Uygur population. (21738402)
2011
9
The relationship between diabetes mellitus and exfoliation syndrome in a United States Veterans Affairs population: a case-control study. (20577098)
2011
10
Review: The role of LOXL1 in exfoliation syndrome/glaucoma. (23960948)
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

About this section

Clinvar genetic disease variations for Exfoliation Syndrome:

6
id Gene Variation 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

About this section
Search GEO for disease gene expression data for Exfoliation Syndrome.

Pathways for genes affiliated with Exfoliation Syndrome

About this section

Pathways related to Exfoliation Syndrome according to GeneCards Suite gene sharing:

(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 I36
glutathione redox reactions I36
glutathione redox reactions II36
4-hydroxy-2-nonenal detoxification36
Glutathione metabolism58
Glutathione metabolism36
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
Metalloproteases in connective tissue degradation
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 pathway36
8.5MPO, SOD1, MTHFR, CAT
138.3APOE, SOD1, CNTNAP2, GSTP1
14
Show member pathways
Vitamin B12 Metabolism36
8.1APOE, MPO, SOD1, MTHFR, CAT

Compounds for genes affiliated with Exfoliation Syndrome

About this section

Compounds related to Exfoliation Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 248)
idCompoundScoreTop Affiliating Genes
1methylchloride4310.0GSTT1, GSTP1, GSTM1
2s-phenylmercapturic acid439.9GSTP1, GSTM1, GSTT1
3cumene hydroperoxide439.8GSTT1, GSTP1, GSTM1
4(4-aminophenyl)mercuric acetate439.8TIMP2, ELN, MMP1, MMP3
51,3-butadiene439.7GSTP1, GSTM1, GSTT1
6latanoprost43 1210.6MMP1, MMP3, TIMP2
7chi 2439.5GSTT1, TIMP2, GSTM1, MTHFR
8doxycycline43 1210.5GSTP1, ELN, MMP1, NUDT6, MMP3
9adrenochrome43 2410.4GSTT1, GSTP1, GSTM1, SOD1
10n-(2-mercaptopropionyl)glycine439.3SOD1, MPO, CAT
11gsts439.3MTHFR, GSTM1, GSTP1, GSTT1
12oxypurinol439.3SOD1, MPO, CAT
138-oxo-dg439.2GSTM1, SOD1, CAT, GSTT1
14glutathion439.2CAT, SOD1, GSTM1, GSTP1
15p002439.1GSTM1, MTHFR, MMP3, TIMP2, GSTT1
16hyaluronic acid43 2410.1MMP3, TIMP2, ELN, MMP1, APOE
17sodium azide439.1SOD1, CAT, MMP1, MPO
18gssg439.1GSTP1, SOD1, CAT, GSTM1
19formate439.0APOE, SOD1, ELN, CAT
20pravastatin43 49 28 24 1213.0MMP1, APOE, TIMP2, MMP3, MTHFR
21manganese superoxide438.9SOD1, CAT, GSTM1, GSTT1, GSTP1
22formaldehyde43 249.9MPO, GSTT1, CAT, ELN, MMP1
23malondialdehyde438.9SOD1, CAT, GSTM1, MPO, GSTT1
24methotrexate49 43 1210.8TIMP2, GSTP1, GSTM1, MTHFR, MMP3, MMP1
25guaiacol43 249.7MPO, SOD1, CAT
26cyclophosphamide43 49 1210.7MPO, GSTT1, MTHFR, GSTM1, GSTP1
27paraffin438.6ELN, MMP1, GSTP1, TIMP2, MPO, APOE
28egcg438.6MMP3, TIMP2, SOD1, MMP1, CAT, GSTP1
29folate438.6GSTM1, MTHFR, APOE, GSTT1, GSTP1
30oxaliplatin43 49 1210.5GSTT1, GSTP1, MPO, SOD1, MTHFR, GSTM1
31carboplatin43 49 1210.5MPO, SOD1, MTHFR, GSTM1, GSTP1, GSTT1
32valine438.5MPO, GSTP1, ELN, MTHFR, GSTT1, GSTM1
33vitamin a43 24 1210.5SOD1, APOE, MMP1, GSTM1, ELN, CAT
34dmso438.4SOD1, MPO, GSTP1, MMP3, NUDT6, CAT
35vegf438.4MMP1, MPO, APOE, MMP3, NUDT6, ELN
36testosterone43 59 24 1211.3GSTP1, GSTM1, MTHFR, MMP1, APOE, NUDT6
37alpha tocopherol438.2MMP1, SOD1, MTHFR, CAT, APOE, GSTM1
38arginine438.2ELN, SOD1, APOE, NUDT6, GSTP1, GSTT1
39indomethacin43 28 59 1211.2CAT, APOE, MPO, SOD1, MMP3, MMP1
40retinoic acid43 249.2MPO, ELN, MTHFR, TIMP2, MMP3, MMP1
414-hydroxynonenal43 249.1MMP1, MPO, SOD1, CAT, GSTM1, GSTP1
42betacarotene438.0MMP1, APOE, SOD1, ELN, MTHFR, GSTM1
43estrogen438.0MTHFR, GSTM1, ELN, MMP1, GSTT1, GSTP1
44n acetylcysteine437.9CAT, APOE, MMP1, MMP3, SOD1, ELN
45serine437.6NUDT6, APOE, MPO, TIMP2, MMP1, CHRNA4
46h2o2437.6ELN, MMP1, APOE, SOD1, TIMP2, CAT
47lactate437.5CAT, ELN, MMP1, MMP3, SOD1, TIMP2
48creatinine437.0GSTM1, GSTP1, SOD1, APOE, MPO, GSTT1
49cysteine437.0TIMP2, NUDT6, APOE, SOD1, MMP3, MMP1
50ascorbic acid43 247.6SOD1, TIMP2, MPO, APOE, MMP1, MMP3

GO Terms for genes affiliated with Exfoliation Syndrome

About this section

Cellular components related to Exfoliation Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:00055789.1MMP3, MMP1, LOXL1, ELN
2extracellular regionGO:00055768.1TIMP2, SOD1, MMP3, MMP1, LOXL1, ELN
3neuronal cell bodyGO:00430258.1CNTNAP2, CHRNA4, SOD1, TIMP2, APOE
4extracellular spaceGO:00056157.9APOE, MPO, TIMP2, SOD1, MMP3, LOXL1

Biological processes related to Exfoliation Syndrome according to GeneCards Suite gene sharing:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1synaptic transmission, cholinergicGO:000727110.0APOE, CHRNA4
2low-density lipoprotein particle remodelingGO:00343749.9MPO, APOE
3glutathione derivative biosynthetic processGO:019016879.9GSTT1, GSTP1, GSTM1
4xenobiotic metabolic processGO:00068059.8GSTM1, GSTT1
5positive regulation of superoxide anion generationGO:00329309.8SOD1, GSTP1
6removal of superoxide radicalsGO:00194309.7SOD1, MPO
7negative regulation of cholesterol biosynthetic processGO:00455419.7SOD1, APOE
8oxidation-reduction processGO:00551149.7GSTT1, LOXL1, MPO
9extracellular matrix disassemblyGO:00226179.6TIMP2, MMP3, MMP1, ELN
10response to reactive oxygen speciesGO:00003029.6GSTP1, CAT, APOE
11agingGO:00075689.6APOE, MPO, TIMP2
12extracellular matrix organizationGO:00301989.4TIMP2, MMP3, MMP1, LOXL1, ELN
13hydrogen peroxide catabolic processGO:00427449.3CAT, MPO
14glutathione metabolic processGO:00067499.3GSTT1, GSTP1, GSTM1, SOD1
15response to hypoxiaGO:00016669.3CAT, MTHFR, CHRNA4
16transmission of nerve impulseGO:00192269.1CNTNAP2, SOD1
17response to drugGO:00424938.9TIMP2, SOD1, LYST, MTHFR, GSTT1
18small molecule metabolic processGO:00442818.4GSTT1, GSTP1, GSTM1, CAT, MTHFR, APOE

Molecular functions related to Exfoliation Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1antioxidant activityGO:00162099.6CAT, APOE
2glutathione transferase activityGO:00043649.3GSTT1, GSTP1, GSTM1

Products for genes affiliated with Exfoliation Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Exfoliation Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet