Exfoliation Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: EXF001 MIFTS: 55	Exfoliation Syndrome Categories: Genetic diseases, Eye diseases
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Aliases & Classifications for Exfoliation Syndrome

MalaCards integrated aliases for Exfoliation Syndrome:

Name: Exfoliation Syndrome ⁵³ ¹² ⁷¹ ⁴¹ ¹⁴ ⁶⁹

Pseudoexfoliation Glaucoma ⁵³ ¹² ²⁸ ⁵¹

Pseudoexfoliation Syndrome ⁵³ ¹² ⁷¹ ⁵¹

Exfoliation Syndrome, Susceptibility to ⁵³ ¹³

Pseudoexfoliation of the Lens ⁵³ ⁷¹

Exfoliation Glaucoma ⁵³ ⁷¹

Xfs ⁵³ ⁷¹

Xfg ⁵³ ⁷¹

Pseudoexfoliation Glaucoma; Pexg ⁵³

Pseudoexfoliation Syndrome; Pexs ⁵³

Pseudo-Exfoliation Syndrome ⁷¹

Exfoliation Glaucoma; Xfg ⁵³

Exfoliative Syndrome ⁷¹

Glaucoma Capsulare ⁷¹

Pexg ⁵³

Pexs ⁵³

Pex ⁷¹

Characteristics:

OMIM:

⁵³

Inheritance:
autosomal dominant

Miscellaneous:
prevalence rates average 10-20% of the general population over age 60
regional, racial, and ethnic clustering has been noted

HPO:

³¹

exfoliation syndrome:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵³ 177650

Disease Ontology ¹² DOID:13641

ICD9CM ³⁴ 365.52

MeSH ⁴¹ D017889

SNOMED-CT ⁶⁴ 111514006 44219007

MedGen ³⁹ C0206368

SNOMED-CT via HPO ⁶⁵ 263681008 23986001 65814009 more

UMLS ⁶⁹ C0206368

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Summaries for Exfoliation Syndrome

OMIM : ⁵³ Exfoliation syndrome (XFS) is a common age-related disorder of the extracellular matrix that is frequently associated with severe chronic secondary open-angle glaucoma and cataract. XFS syndrome may affect up to 30% of people over 60 years of age worldwide and is biomicroscopically diagnosed by abnormal microfibrillar deposits on ocular structures that line the aqueous-bathed surfaces of the anterior segment (summary by Schlotzer-Schrehardt and Naumann, 2006). (177650)

MalaCards based summary : Exfoliation Syndrome, also known as pseudoexfoliation glaucoma, is related to open-angle glaucoma and central retinal vein occlusion, and has symptoms including glaucoma, lens subluxation and pigment deposition in the trabecular meshwork. An important gene associated with Exfoliation Syndrome is LOXL1 (Lysyl Oxidase Like 1), and among its related pathways/superpathways are Degradation of the extracellular matrix and Elastic fibre formation. The drugs Latanoprost and Timolol have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and testes, and related phenotypes are behavior/neurological and homeostasis/metabolism

UniProtKB/Swiss-Prot : ⁷¹ Exfoliation syndrome: A disorder characterized by accumulation of abnormal fibrillar deposits in the anterior segment of the eye. In addition to being a cause of glaucoma and glaucomatous optic neuropathy, exfoliation syndrome has also been associated with lens zonule weakness, cataract formation, and systemic vascular complications due to deposition of exfoliation material in extraocular tissues.

Wikipedia : ⁷² Pseudoexfoliation syndrome, often abbreviated as PEX and sometimes as PES or PXS, is an aging-related... more...

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Related Diseases for Exfoliation Syndrome

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

(show top 50) (show all 74)

#	Related Disease	Score	Top Affiliating Genes
1	open-angle glaucoma	29.7	ELN GSTT1 LOXL1 MMP1
2	central retinal vein occlusion	29.6	LOXL1 MTHFR
3	pelvic organ prolapse	29.5	ELN LOX LOXL1 MMP1
4	vascular disease	29.4	APOE ELN MTHFR
5	retinal vein occlusion	29.2	LOXL1 MTHFR
6	aortic aneurysm	29.0	ELN FBN1 LOX
7	aortic aneurysm, familial abdominal, 1	28.7	APOE ELN FBN1 MMP1
8	zellweger syndrome	11.4
9	peroxisome biogenesis disorder 1b	10.9
10	peroxisomal disease	10.9
11	refsum disease, infantile form	10.9
12	peeling skin syndrome	10.9
13	rickets	10.3
14	cataract	10.2
15	cerebral atherosclerosis	10.2	APOE MTHFR
16	lipoprotein glomerulopathy	10.2	APOE CLU
17	ischemic heart disease	10.2	APOE MTHFR
18	hypophosphatemic rickets, x-linked recessive	10.1
19	pseudoxanthoma elasticum-like papillary dermal elastolysis	10.0	ELN FBN1
20	late-onset focal dermal elastosis	10.0	ELN FBN1
21	hypophosphatemic rickets, x-linked dominant	10.0
22	hypophosphatemia	10.0
23	peroxisomal biogenesis disorders	10.0
24	familial abdominal aortic aneurysm	10.0	ELN FBN1
25	mid-dermal elastolysis	10.0	ELN FBN1
26	retinitis	10.0
27	varicose veins	10.0	ELN MMP1 MTHFR
28	carotid stenosis	10.0	APOE MMP1 MTHFR
29	sorsby fundus dystrophy	10.0	ELN FBN1
30	aortic valve insufficiency	10.0	ELN FBN1
31	supravalvular aortic stenosis	10.0	ELN FBN1
32	osteomalacia	10.0
33	glaucoma, primary open angle	9.9
34	migraine without aura	9.9	CACNA1A MTHFR
35	ocular hypertension	9.9
36	pulmonary disease, chronic obstructive	9.9	ELN MMP1
37	oral submucous fibrosis	9.9	GSTT1 LOX
38	epidermolysis bullosa dystrophica	9.9	FBN1 MMP1
39	arteritic anterior ischemic optic neuropathy	9.8	GSTT1 MTHFR
40	lens subluxation	9.8	FBN1 MTHFR
41	ischemic optic neuropathy	9.8	GSTT1 MTHFR
42	aortic disease	9.8	APOE ELN FBN1
43	chronic actinic dermatitis	9.8	ELN FBN1 MMP1
44	paine syndrome	9.8
45	branchiootic syndrome 1	9.8
46	episodic pain syndrome, familial, 1	9.8
47	sleeping sickness	9.8
48	patellofemoral pain syndrome	9.8
49	oncogenic osteomalacia	9.8
50	aortic aneurysm, familial thoracic 1	9.8	ELN FBN1 MMP1

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

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Symptoms & Phenotypes for Exfoliation Syndrome

Symptoms via clinical synopsis from OMIM:

⁵³

Head And Neck Eyes:
lens subluxation
pigment deposition in the trabecular meshwork
retinal vein occlusion
abnormal fibrillar extracellular material in anterior segment tissues
lens pseudoexfoliation
more

Clinical features from OMIM:

177650

Human phenotypes related to Exfoliation Syndrome:

³¹ (show all 7)

#	Description	HPO Source Accession
1	glaucoma ³¹	HP:0000501
2	lens subluxation ³¹	HP:0001132
3	pigment deposition in the trabecular meshwork ³¹	HP:0012631
4	retinal vein occlusion ³¹	HP:0012636
5	anisocoria ³¹	HP:0009916
6	asymmetry of intraocular pressure ³¹	HP:0012633
7	phakodonesis ³¹	HP:0012629

MGI Mouse Phenotypes related to Exfoliation Syndrome:

⁴³

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.92	APOE CACNA1A CLU CNTNAP2 FBN1 LOX
2	homeostasis/metabolism	MP:0005376	9.91	CACNA1A CLU FBN1 LOX LOXL1 LYST
3	integument	MP:0010771	9.76	APOE CACNA1A CNTNAP2 FBN1 LOX LOXL1
4	nervous system	MP:0003631	9.56	APOE CACNA1A CLU CNTNAP2 FBN1 LOXL1
5	respiratory system	MP:0005388	9.1	APOE CACNA1A FBN1 LOX LOXL1 LYST

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Drugs & Therapeutics for Exfoliation Syndrome

Drugs for Exfoliation Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 85)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Latanoprost

Approved, Investigational

Phase 4

130209-82-4

5311221 5282380

Timolol

Approved

Phase 4,Phase 3

26839-75-8

5478 33624

Dexamethasone

Approved, Investigational, Vet_approved

Phase 4

50-02-2

5743

Ephedrine

Approved

Phase 4

299-42-3

9294

Pseudoephedrine

Approved

Phase 4

90-82-4

7028

Tobramycin

Approved, Investigational

Phase 4

32986-56-4

36294 5496

Bimatoprost

Approved, Investigational

Phase 4

155206-00-1

5311027

Heparin

Approved, Investigational

Phase 4

9005-49-6

46507594 772

Dorzolamide

Approved

Phase 4

120279-96-1

5284549 3154

Bromfenac

Approved July 1997

Phase 4

91714-94-2

60726

Maleic acid

Experimental

Phase 4

110-16-7

444266

Autonomic Agents

Phase 4

Peripheral Nervous System Agents

Phase 4,Phase 3

Adrenergic Agents

Phase 4,Phase 3

Adrenergic Antagonists

Phase 4,Phase 3

Adrenergic beta-Antagonists

Phase 4,Phase 3

Anti-Arrhythmia Agents

Phase 4,Phase 3

Antihypertensive Agents

Phase 4,Phase 3,Phase 2

Neurotransmitter Agents

Phase 4,Phase 3

Analgesics

Phase 4

Analgesics, Non-Narcotic

Phase 4

Anti-Bacterial Agents

Phase 4

Antibiotics, Antitubercular

Phase 4

Antiemetics

Phase 4

Anti-Infective Agents

Phase 4

Anti-Inflammatory Agents

Phase 4,Phase 2,Phase 3

Anti-Inflammatory Agents, Non-Steroidal

Phase 4

Antineoplastic Agents, Hormonal

Phase 4

Antirheumatic Agents

Phase 4

BB 1101

Phase 4

Dexamethasone acetate

Phase 4

1177-87-3

Gastrointestinal Agents

Phase 4

glucocorticoids

Phase 4,Phase 2,Phase 3

HIV Protease Inhibitors

Phase 4

Hormone Antagonists

Phase 4,Phase 2,Phase 3

Hormones

Phase 4,Phase 2,Phase 3

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 4,Phase 2,Phase 3

Nasal Decongestants

Phase 4

Ophthalmic Solutions

Phase 4,Phase 3,Phase 2

Pharmaceutical Solutions

Phase 4,Phase 3,Phase 2

protease inhibitors

Phase 4

Respiratory System Agents

Phase 4

Tetrahydrozoline

Phase 4,Phase 3

Vasoconstrictor Agents

Phase 4

calcium heparin

Phase 4

Carbonic Anhydrase Inhibitors

Phase 4

Pilocarpine

Approved, Investigational

Phase 3

92-13-7, 54-71-7

5910

Apraclonidine

Approved

Phase 3

66711-21-5

2216

Dipivefrin

Approved

Phase 3

52365-63-6

3105

Travoprost

Approved

Phase 3

157283-68-6

5282226

Interventional clinical trials:

(show all 44)

#	Name	Status	NCT ID	Phase	Drugs
1	Bromfenac to Reduce Inflammation in Patients With Pseudoexfoliation Syndrome After Cataract Surgery	Completed	NCT02137161	Phase 4	Dexamethasone+Tobramycin eye drop;Bromfenac eye drop
2	24-Hour Intraocular Pressure Control With Bimatoprost/Timolol Versus Latanoprost as First Choice	Completed	NCT01448837	Phase 4	Bimatoprost/Timolol, 24-hour intraocular pressure monitoring;Latanoprost, 24-hour intraocular pressure monitoring
3	Intraocular Pressure Reduction With the Bimatoprost/Timolol Fixed Combination	Completed	NCT00941096	Phase 4	Bimatoprost and Bimatoprost/Timolol fixed combination.
4	Aqueous Flare of a Hydrophobic Acrylic Single-piece Open-loop IOL With Modified Material Surface Properties	Completed	NCT01767012	Phase 4
5	Assessing Cosopt Switch Patients	Completed	NCT00273442	Phase 4	timolol maleate;dorzolamide/timolol maleate fixed combination
6	Efficacy of a Capsular Tension Ring in Preventing Anterior Capsule Shrinkage After Cataract Surgery in Exfoliation Syndrome	Unknown status	NCT01455168	Phase 3
7	Randomized Prospective Study of Selective Laser Trabeculoplasty (SLT) Versus Argon Trabeculoplasty (ALT) in Patients With Pseudoexfoliation Glaucoma and Ocular Hypertension	Completed	NCT01126203	Phase 3
8	24-Hour Intraocular Pressure (IOP) Control With Travoprost/Timolol Fixed Combination	Completed	NCT00331240	Phase 3	travoprost/timolol fixed combination;placebo (artificial tears)
9	Will the Use of Triesence During Glaucoma Surgery Provide Lower Eye Pressure and Improve the Results of the Surgery?	Completed	NCT00853905	Phase 2, Phase 3	Triesence;balanced salt solution BSS
10	A Prospective Study to Assess the Hypotensive Efficacy of Rho-Kinase Inhibitor AR-12286 Ophthalmic Solution 0.5% and 0.7% in Patients With Exfoliation Syndrome and Ocular Hypertension or Glaucoma	Completed	NCT01936389	Phase 2	AR-12286
11	LOXL1 Polymorphism in Pseudoexfoliation Syndrome	Unknown status	NCT01515735
12	The International Collaborative Exfoliation Syndrome Treatment Study	Unknown status	NCT00804115		Latanoprost with Pilocarpine vs Timolol or Cosopt
13	Comparison of the Capsular Stability With Two Different IOL Models in Patients With Pseudoexfoliation Syndrome: an Exploratory Study	Unknown status	NCT02155478
14	Contrast Sensitivity in Glaucoma	Unknown status	NCT00947869
15	Following Patients After Selective and Pascal Laser Trabeculoplasty for Treatment of Chronic Open-Angle Glaucoma	Unknown status	NCT02679482
16	Methods to Manage Intra-operative Floppy-iris Syndrome and Poor Pupil Dilation in Cataract Surgery	Unknown status	NCT01778959
17	Early Diagnosis in Glaucoma With GDxVcc	Completed	NCT01022281
18	Pseudoexfoliation Syndrome in Myopes	Completed	NCT01637740
19	Central Corneal Thickness in Glaucoma	Completed	NCT01023997
20	Optical Low Coherence Reflectometry Enables Preoperative Detection of Zonular Weakness in Pseudoexfoliation Syndrome	Completed	NCT01298895
21	Plasma Levels of Matrix Metalloproteinases (MMPs) and Degree of DNA Fragmentation in Pseudoexfoliation (PEX) Glaucoma	Completed	NCT00327613
22	The Effect of Pseudoexfoliation on Choroidal Thickness in Open Angle Glaucoma	Completed	NCT03373942
23	Anti-inflammatory Therapy Following Selective Laser Trabeculoplasty	Completed	NCT00485108		prednisolone 1%;ketorolac 0.5%;Artificial Tears (Methyl cellulose drops)
24	Adherence With Fixed Versus Unfixed Glaucoma Therapy	Completed	NCT01281020
25	Additivity Study: Additive Effect on Eye Pressure of Azopt and Alphagan P to Travatan	Completed	NCT00121147		Travatan;Azopt;Alphagan P
26	The Diurnal and Nocturnal Effect of Simbrinza and Timolol on Intraocular Pressure and Ocular Perfusion Pressure	Completed	NCT02165631
27	Characteristics and Risk Ratios of Late Intraocular Lens (IOL) Complication	Completed	NCT02747667
28	AqueSys XEN 45 Glaucoma Implant in Refractory Glaucoma	Completed	NCT02036541
29	Clinical Factors Associated Floppy Iris	Completed	NCT00472888
30	Pigment Dispersion Syndrome With and Without Glaucoma	Completed	NCT00001152
31	mRNA Expression in Lymphocytes of Glaucoma Patients	Completed	NCT00327509
32	Investigating the Genetic Basis of Pseudoexfoliation Syndrome and Angle-closure Glaucoma	Recruiting	NCT03423758
33	IOP Monitoring After Trabeculectomy Using iCare Home	Recruiting	NCT03445806
34	Monitoring of the IOP After SLT Using iCare Home	Recruiting	NCT03310788
35	Changes in Ocular Rigidity After Trabeculectomy in Patients With POAG	Recruiting	NCT02544646
36	Early Diagnosis, Pathogenesis and Progression of Open Angle Glaucoma	Recruiting	NCT00494923
37	Anterior Segment Imaging With Ultrahigh-resolution OCT in Patients With Glaucoma and PEX - a Pilot Study	Recruiting	NCT02865473		Pilocarpine
38	Measurement of Ocular Tensional Fluctuation by Triggerfish Lens Before and After Cataract Surgery in Patients With Exfoliative Glaucoma	Recruiting	NCT02658071
39	Natural History of IOL in Pseudo Exfoliation Syndrome	Active, not recruiting	NCT01255995
40	The Endothelial Count in Pxf	Not yet recruiting	NCT03265457
41	Imaging Lens Deposits in Exfoliation Syndrome	Terminated	NCT02042703
42	Abdominal Aortic Aneurysms and Pseudoexfoliation Syndrome	Terminated	NCT00546013
43	Intracameral Mydriasis Versus Topical Mydriasis in Cataract Surgery	Terminated	NCT00690222
44	Patch Graft Material Safety and Effectiveness in Covering Glaucoma Drainage Device Tube	Terminated	NCT01301378

Search NIH Clinical Center for Exfoliation Syndrome

Cochrane evidence based reviews: exfoliation syndrome

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Genetic Tests for Exfoliation Syndrome

Genetic tests related to Exfoliation Syndrome:

#	Genetic test	Affiliating Genes
1	Pseudoexfoliation Glaucoma ²⁸	LOXL1

Sources

Anatomical Context for Exfoliation Syndrome

MalaCards organs/tissues related to Exfoliation Syndrome:

³⁸

Eye, Endothelial, Testes, Retina

Sources

Publications for Exfoliation Syndrome

Articles related to Exfoliation Syndrome:

(show top 50) (show all 293)

#	Title	Authors	Year
1	A Plasma Metabolomic Signature of the Exfoliation Syndrome Involves Amino Acids, Acylcarnitines, and Polyamines. ( 29450546 )	Leruez S....Reynier P.	2018
2	Laser Management of Glaucoma in Exfoliation Syndrome. ( 29419644 )	Sandhu S....Damji K.F.	2018
3	Extracellular Matrix Regulation and Dysregulation in Exfoliation Syndrome. ( 29432335 )	Zenkel M.	2018
4	Exfoliation Syndrome: A Historical Perspective. ( 29419643 )	Tarkkanen A.	2018
5	Growth Factors, Oxidative Damage and Inflammation in Exfoliation Syndrome. ( 29401156 )	BorrA!s T.	2018
6	Mechanisms of Glaucoma in Exfoliation Syndrome. ( 29432334 )	Ozaki M.	2018
7	Current Concepts in True Exfoliation Syndrome. ( 29419645 )	Teekhasaenee C.	2018
8	Epidemiology of Exfoliation Syndrome. ( 29419641 )	Konstas A.G.P....Ringvold A.	2018
9	Exfoliation syndrome in Northern Nigeria. ( 29440869 )	Idakwo U....Ritch R.	2018
10	Update on Animal Models of Exfoliation Syndrome. ( 29419647 )	Anderson M.G....Fingert J.H.	2018
11	Vascular Dysfunction in Exfoliation Syndrome. ( 29419648 )	HollA^ G.	2018
12	Molecular Biology of Exfoliation Syndrome. ( 29419649 )	SchlAPtzer-Schrehardt U.	2018
13	Nailfold capillary morphology in exfoliation syndrome. ( 28085140 )	Cousins C.C....Pasquale L.R.	2017
14	Genetic risk factors for glaucoma and exfoliation syndrome identified by genome-wide association studies. ( 28721823 )	Sakurada Y....Mabuchi F.	2017
15	Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. ( 28553957 )	Aung T....Khor C.C.	2017
16	Peripapillary Perfused Capillary Density in Exfoliation Syndrome and Exfoliation Glaucoma versus POAG and Healthy Controls: An OCTA Study. ( 29165935 )	Suwan Y....Ritch R.	2017
17	The Prevalence of Exfoliation Syndrome in an Iranian Population Aged 45-69 Years. ( 27253831 )	Hashemi H....Fotouhi A.	2016
18	Evaluation of Retinal Nerve Fiber Layer and Ganglion Cell Complex Thickness in Unilateral Exfoliation Syndrome Using Optical Coherence Tomography. ( 26900827 )	Aydin D....Yuksel B.	2016
19	Risk for Exfoliation Syndrome in Women With Pelvic Organ Prolapse : A Utah Project on Exfoliation Syndrome (UPEXS) Study. ( 27632406 )	Wirostko B.M....Allingham R.R.	2016
20	Reproducibility of the water-drinking test in patients with exfoliation syndrome and exfoliative glaucoma. ( 27316559 )	A9zyol E....Karalezli A.	2016
21	Comparison of retinal nerve fiber layer thickness in patients having pseudo exfoliation syndrome with healthy adults. ( 28083059 )	Yasmeen N....Qamar-Ul-Islam .	2016
22	CORRELATION BETWEEN MACULAR CHANGES IN EXFOLIATION SYNDROME AND EXFOLIATIVE GLAUCOMA. ( 27333723 )	Prskalo M.A. ....Prskalo Z.	2016
23	Major review: Exfoliation syndrome; advances in disease genetics, molecular biology, and epidemiology. ( 27845061 )	Aboobakar I.F....Allingham R.R.	2016
24	Efficacy of Topically Administered Rho-Kinase Inhibitor AR-12286 in Patients With Exfoliation Syndrome and Ocular Hypertension or Glaucoma. ( 27552517 )	Skaat A....Ritch R.	2016
25	Systemic Associations of Exfoliation Syndrome. ( 26886119 )	Ritch R.	2016
26	The Clinical Spectrum and a New Theory of Pathogenesis of True Exfoliation Syndrome. ( 27596291 )	Teekhasaenee C....Ritch R.	2016
27	Exfoliation Syndrome and Solar Exposure: New Epidemiological Insights Into the Pathophysiology of the Disease. ( 26322422 )	Jiwani A.Z....Pasquale L.R.	2015
28	Association of clusterin (CLU) variants and exfoliation syndrome: An analysis in two Caucasian studies and a meta-analysis. ( 26272660 )	Fan B.J....Wiggs J.L.	2015
29	Investigation of phacoemulsification on exfoliation syndrome combined cataract with different nuclear hardness. ( 25684159 )	Jiang Y....Lu Y.	2015
30	Hearing in older adults with exfoliation syndrome/exfoliation glaucoma or primary open-angle glaucoma. ( 26547142 )	Tryggvason G....Petersen H.	2015
31	Evaluation of Optical Low Coherence Reflectometry Parameters in Patients with Exfoliation Syndrome. ( 26060577 )	BeyazyA+ldA+z E....A9ztA1rk F.	2015
32	Corrigendum: a common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. ( 26018902 )	Aung T....Khor C.C.	2015
33	The Relationship Between Choroidal Expansion and Intraocular Pressure Rise During the Water Drinking Test in Healthy Subjects and Patients With Exfoliation Syndrome. ( 26035419 )	Kocabeyoglu S....Irkec M.	2015
34	Exfoliation syndrome: a disease with an environmental component. ( 25594763 )	Dewundara S....Pasquale L.R.	2015
35	Intraocular Pressure Characteristics of Exfoliative Glaucoma and Exfoliation Syndrome as Determined With the Water Drinking Test. ( 25642816 )	Mocan M.C....Konstas A.G.	2015
36	Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus. ( 26307087 )	Hauser M.A....Allingham R.R.	2015
37	A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. ( 25706626 )	Aung T....Khor C.C.	2015
38	The association of LOXL1 polymorphisms with exfoliation syndrome/glaucoma: Meta-analysis. ( 25709925 )	Ji Q.s....Zhong J.X.	2015
39	The prevalence of exfoliation syndrome in Turkey. ( 26508674 )	KA+lA+As R....Dursun A.	2015
40	Clinical Signs and Characteristics of Exfoliation Syndrome and Exfoliative Glaucoma in Northern China. ( 26065350 )	Ren R....Ritch R.	2015
41	Exfoliation syndrome: assembling the puzzle pieces. ( 26648185 )	Pasquale L.R....Ritch R.	2015
42	Expression and regulation of LOXL1 and elastin-related genes in eyes with exfoliation syndrome. ( 25275906 )	Zenkel M....SchlAPtzer-Schrehardt U.	2014
43	Oxidative stress in dry age-related macular degeneration and exfoliation syndrome. ( 25319011 )	Chiras D....Kroupis C.	2014
44	The frequency of exfoliation syndrome in the central anatolia region of Turkey. ( 25165574 )	KA+lA+As R....Cumurcu T.	2014
45	Expression and regulation of LOXL1 and elastin-related genes in eyes with exfoliation syndrome. ( 25275910 )	Wiggs J.L....Pasquale L.R.	2014
46	Aqueous humour levels of ghrelin in exfoliation syndrome and exfoliation glaucoma patients. ( 24802745 )	OzeAs A.V....Ersalcan T.	2014
47	Solar Exposure and Residential Geographic History in Relation to Exfoliation Syndrome in the United States and Israel. ( 25188364 )	Pasquale L.R....Levkovitch-Verbin H.	2014
48	Systemic diseases associated with exfoliation syndrome. ( 25171641 )	Bettis D.I....Wirostko B.M.	2014
49	Genetics of exfoliation syndrome and glaucoma. ( 25171643 )	Aboobakar I.F....Allingham R.R.	2014
50	Glycomics, extracellular matrix, and anti-glycan antibodies in exfoliation syndrome. ( 25275900 )	Huflejt M.E....Vuskovic M.I.	2014

Sources

Genes for Exfoliation Syndrome

Genes related to Exfoliation Syndrome (1 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Implication	PubmedIds
1	LOXL1	Lysyl Oxidase Like 1	Protein Coding	710.42	Molecular basis known ⁵³ Genetic Tests ²⁸ Susceptibility factor ⁵³ DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Disorders Publications Summaries (show sections)	18385788 18636115 18201684 (more) 19936304 19343041 19664108 18037624 19503743 18974306 18385063 18648524 18809397 20142848
2	ELN	Elastin	Protein Coding	35.96	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications (show sections)	8030566 9878213 7777294
3	MMP1	Matrix Metallopeptidase 1	Protein Coding	23.81	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications (show sections)	20038976 15665347
4	FBN1	Fibrillin 1	Protein Coding	23.49	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : DISEASES inferred (show sections)	9112993
5	LYST	Lysosomal Trafficking Regulator	Protein Coding	23.07	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
6	LOX	Lysyl Oxidase	Protein Coding	22.94	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
7	CNTNAP2	Contactin Associated Protein Like 2	Protein Coding	22.46	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
8	CACNA1A	Calcium Voltage-Gated Channel Subunit Alpha1 A	Protein Coding	22	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
9	CLU	Clusterin	Protein Coding	21.88	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : DISEASES inferred (show sections)	18806885 16639006
10	MTHFR	Methylenetetrahydrofolate Reductase	Protein Coding	21.83	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
11	APOE	Apolipoprotein E	Protein Coding	21.41	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
12	GSTT1	Glutathione S-Transferase Theta 1	Protein Coding	20.63	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)

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Variations for Exfoliation Syndrome

ClinVar genetic disease variations for Exfoliation Syndrome:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	LTBP2	NM_000428.2(LTBP2): c.1295C> T (p.Pro432Leu)	single nucleotide variant	Likely pathogenic	rs137854861	GRCh37	Chromosome 14, 75018994: 75018994
2	LTBP2	NM_000428.2(LTBP2): c.1999A> C (p.Ile667Leu)	single nucleotide variant	Likely pathogenic	rs137854859	GRCh37	Chromosome 14, 74995814: 74995814
3	LTBP2	NM_000428.2(LTBP2): c.4699A> G (p.Met1567Val)	single nucleotide variant	Likely pathogenic	rs137854864	GRCh37	Chromosome 14, 74970193: 74970193

Sources

Expression for Exfoliation Syndrome

Search GEO for disease gene expression data for Exfoliation Syndrome.

Sources

Pathways for Exfoliation Syndrome

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

#	Super pathways	Score	Top Affiliating Genes
1	Degradation of the extracellular matrix ⁶² Show member pathways Collagen degradation ⁶² Extracellular matrix organization ⁶²	12.01	ELN FBN1 LOX LOXL1 MMP1
2	Elastic fibre formation ⁶² Show member pathways Molecules associated with elastic fibres ⁶²	10.79	ELN FBN1 LOX LOXL1
3	Cell adhesion_Cell-matrix glycoconjugates ²¹	10.75	ELN MMP1

Sources

GO Terms for Exfoliation Syndrome

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

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular region	GO:0005576	9.7	APOE CLU ELN FBN1 LOX LOXL1
2	proteinaceous extracellular matrix	GO:0005578	9.35	ELN FBN1 LOX LOXL1 MMP1
3	extracellular matrix	GO:0031012	9.1	APOE CLU ELN FBN1 LOXL1 MMP1

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

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	cellular protein metabolic process	GO:0044267	9.65	APOE FBN1 MMP1
2	extracellular matrix disassembly	GO:0022617	9.54	ELN FBN1 MMP1
3	blood circulation	GO:0008015	9.49	ELN MTHFR
4	transmission of nerve impulse	GO:0019226	9.46	CACNA1A CNTNAP2
5	extracellular matrix organization	GO:0030198	9.46	ELN FBN1 LOX LOXL1
6	reverse cholesterol transport	GO:0043691	9.43	APOE CLU
7	aorta development	GO:0035904	9.4	LOX LOXL1
8	negative regulation of amyloid-beta formation	GO:1902430	9.32	APOE CLU
9	protein import	GO:0017038	9.26	APOE CLU
10	positive regulation of amyloid fibril formation	GO:1905908	8.96	APOE CLU
11	regulation of amyloid-beta clearance	GO:1900221	8.62	APOE CLU

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

#	Name	GO ID	Score	Top Affiliating Genes
1	low-density lipoprotein particle receptor binding	GO:0050750	8.96	APOE CLU
2	oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor	GO:0016641	8.62	LOX LOXL1

Sources

Sources for Exfoliation Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ ExPASy

¹⁷ FDA Approved Drugs

¹⁸ FMA

¹⁹ GeneAnalytics

²⁰ GeneCards

²¹ GeneGo (Thomson Reuters)

²² GeneHancer via GeneCards

²³ GeneReviews

²⁴ Genetics Home Reference

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HGMD

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ MalaCards

³⁹ MedGen

⁴⁰ MedlinePlus

⁴¹ MeSH

⁴² MESH via Orphanet

⁴³ MGI

⁴⁴ NCBI Bookshelf

⁴⁵ NCI

⁴⁶ NCIt

⁴⁷ NDF-RT

⁴⁸ NIH Clinical Center

⁴⁹ NIH Rare Diseases

⁵⁰ NINDS

⁵¹ Novoseek

⁵² Novus Biologicals

⁵³ OMIM

⁵⁴ OMIM via Orphanet

⁵⁵ Orphanet

⁵⁶ PathCards

⁵⁷ PharmGKB

⁵⁸ PubMed

⁵⁹ PubMed Health

⁶⁰ QIAGEN

⁶¹ R&D Systems

⁶² Reactome

⁶³ Sino Biological

⁶⁴ SNOMED-CT

⁶⁵ SNOMED-CT via HPO

⁶⁶ SNOMED-CT via Orphanet

⁶⁷ TGDB

⁶⁸ Tocris

⁶⁹ UMLS

⁷⁰ UMLS via Orphanet

⁷¹ UniProtKB/Swiss-Prot

⁷² Wikipedia