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XFS
MCID: EXF001
MIFTS: 55

Exfoliation Syndrome (XFS)

Categories: Eye diseases, Genetic diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Exfoliation Syndrome

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MalaCards integrated aliases for Exfoliation Syndrome:

Name: Exfoliation Syndrome 57 12 72 44 15 39 17 70
Pseudoexfoliation Glaucoma 57 12 29 54 6
Exfoliation Syndrome, Susceptibility to 57 29 13 6
Pseudoexfoliation Syndrome 57 12 72 54
Pseudoexfoliation of the Lens 57 72
Exfoliation Glaucoma 57 72
Xfs 57 72
Xfg 57 72
Pseudoexfoliation Glaucoma; Pexg 57
Pseudoexfoliation Syndrome; Pexs 57
Pseudo-Exfoliation Syndrome 72
Exfoliation Glaucoma; Xfg 57
Exfoliative Syndrome 72
Glaucoma Capsulare 72
Pexg 57
Pexs 57
Pex 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:13641
OMIM® 57 177650
ICD9CM 34 365.52
MeSH 44 D017889
NCIt 50 C129025
SNOMED-CT 67 111514006
MedGen 41 C0206368
UMLS 70 C0206368
Sources

Summaries for Exfoliation Syndrome

About this section
Disease Ontology : 12 A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.

MalaCards based summary : Exfoliation Syndrome, also known as pseudoexfoliation glaucoma, is related to cataract and pulmonary disease, chronic obstructive, and has symptoms including progressive decreased vision 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 Cell adhesion_Cell-matrix glycoconjugates. The drugs Ketorolac and Latanoprost have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and endothelial, and related phenotypes are cataract and lens subluxation

OMIM® : 57 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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 Pseudoexfoliation syndrome, often abbreviated as PEX and sometimes as PES or PXS, is an aging-related... more...

Sources

Related Diseases for Exfoliation Syndrome

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

(show top 50) (show all 288)
# Related Disease Score Top Affiliating Genes
1 cataract 30.5 MTHFR MMP3 LOXL1 GSTM1 FBN1 APOE
2 pulmonary disease, chronic obstructive 30.3 SERPINA3 MMP1 GSTM1 ELN
3 glaucoma-related pigment dispersion syndrome 30.3 LYST LOXL1
4 glaucoma, primary open angle 30.2 SERPINA3 LTBP2 LOXL1 GSTM1 FBN1 ELN
5 intraocular pressure quantitative trait locus 30.1 SERPINA3 MMP1 LTBP2 LOXL1 FBN1 ELN
6 open-angle glaucoma 30.0 MTHFR MMP1 LTBP2 LOXL1 GSTM1 FBN1
7 vascular disease 30.0 OLR1 MTHFR MMP3 ELN APOE
8 cerebrovascular disease 30.0 SERPINA3 MTHFR GSTM1 APOE
9 inguinal hernia 30.0 MMP1 LOXL1 LOX FBN1 ELN
10 corneal edema 29.9 MMP3 MMP1 LTBP2
11 atherosclerosis susceptibility 29.9 OLR1 MTHFR ELN APOE
12 primary congenital glaucoma 29.9 LTBP2 LOXL1 FBN1
13 aneurysm 29.8 LOX FBN1 ELN
14 macular degeneration, age-related, 1 29.8 SERPINA3 LOXL1 ELN CLU APOE
15 pelvic organ prolapse 29.8 MMP3 MMP1 LOXL1 LOX FBN1 ELN
16 aortic dissection 29.7 LOX FBN1 ELN
17 heart valve disease 29.7 SERPINA3 FBN1 ELN
18 keratoconus 29.7 MMP3 MMP1 LOX FBN1 ELN
19 connective tissue disease 29.6 SERPINA3 MMP3 LOX FBN1 ELN
20 homocystinuria 29.5 MTHFR LOX FBN1
21 varicose veins 29.4 MTHFR MMP3 MMP1 FBN1 ELN
22 homocysteinemia 29.4 MTHFR FBN1 ELN CLU APOE
23 aortic aneurysm, familial abdominal, 1 29.3 SERPINA3 MMP3 MMP1 LOX FBN1 ELN
24 lens subluxation 29.3 MTHFR LTBP2 LOXL1 FBN1
25 alzheimer disease 28.7 SERPINA3 OLR1 MTHFR GSTM1 CNTNAP2 CLU
26 lipoprotein quantitative trait locus 28.6 SERPINA3 OLR1 MTHFR MMP3 FBN1 ELN
27 heart disease 28.3 MTHFR MMP3 MMP1 LOX FBN1 ELN
28 zellweger syndrome 11.2
29 peroxisome biogenesis disorder 1b 11.2
30 neonatal adrenoleukodystrophy 11.1
31 peeling skin syndrome 11.0
32 peroxisomal biogenesis disorder 11.0
33 refsum disease, infantile form 10.9
34 peroxisomal disease 10.9
35 superior limbic keratoconjunctivitis 10.4 MMP3 MMP1
36 coronary artery aneurysm 10.4 MMP3 MMP1
37 spastic entropion 10.4 MMP3 MMP1
38 ocular hypertension 10.4
39 hypophosphatemic rickets, x-linked dominant 10.4
40 tendinopathy 10.4 MMP3 MMP1
41 hypophosphatemic rickets, x-linked recessive 10.3
42 yemenite deaf-blind hypopigmentation syndrome 10.3
43 hypophosphatemia 10.3
44 odontogenic myxoma 10.3 SERPINA3 MMP1
45 carotid artery disease 10.3 MMP3 MMP1 APOE
46 bladder diverticulum 10.3 LOX ELN
47 cerebral arterial disease 10.3 SERPINA3 ELN APOE
48 benign paroxysmal positional nystagmus 10.3 LOXL1-AS1 CACNA1A
49 oral submucous fibrosis 10.2 MMP3 LOX GSTM1
50 lymph node disease 10.2 SERPINA3 MMP3 MMP1

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



Diseases related to Exfoliation Syndrome
Sources

Symptoms & Phenotypes for Exfoliation Syndrome

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Human phenotypes related to Exfoliation Syndrome:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 lens subluxation 31 HP:0001132
3 glaucoma 31 HP:0000501
4 rigidity 31 HP:0002063
5 mydriasis 31 HP:0011499
6 retinal vein occlusion 31 HP:0012636
7 pigment deposition in the trabecular meshwork 31 HP:0012631
8 anisocoria 31 HP:0009916
9 pseudoexfoliation 31 HP:0012627
10 phakodonesis 31 HP:0012629
11 asymmetry of intraocular pressure 31 HP:0012633
12 iris hypoperfusion 31 HP:0012635

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
lens subluxation
retinal vein occlusion
pigment deposition in the trabecular meshwork
asymmetry of intraocular pressure
abnormal fibrillar extracellular material in anterior segment tissues
more

Clinical features from OMIM®:

177650 (Updated 20-May-2021)

Symptoms:

12
  • • progressive decreased vision

MGI Mouse Phenotypes related to Exfoliation Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 ADORA3 APOE CACNA1A CLU CNTNAP2 FBN1
2 homeostasis/metabolism MP:0005376 10.07 ADORA3 APOE CACNA1A CLU FBN1 LOX
3 integument MP:0010771 9.85 ADORA3 APOE CACNA1A CNTNAP2 FBN1 LOX
4 no phenotypic analysis MP:0003012 9.5 ADORA3 APOE CACNA1A FBN1 LTBP2 LYST
5 respiratory system MP:0005388 9.23 ADORA3 APOE CACNA1A FBN1 LOX LOXL1
Sources

Drugs & Therapeutics for Exfoliation Syndrome

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

(show top 50) (show all 76)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
2
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
3
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
4
Timolol Approved Phase 4 26839-75-8 33624 5478
5
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
6
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
7
Bromfenac Approved Phase 4 91714-94-2 60726
8
Tobramycin Approved, Investigational Phase 4 32986-56-4 5496 36294
9
Travoprost Approved Phase 4 157283-68-6 5282226
10
Heparin Approved, Investigational Phase 4 9005-49-6 772 9812414
11
Dorzolamide Approved Phase 4 120279-96-1 3154 5284549
12
Cloprostenol Vet_approved Phase 4 54276-21-0
13
Maleic acid Experimental Phase 4 110-16-7 444266
14 Ketorolac Tromethamine Phase 4
15 Pharmaceutical Solutions Phase 4
16 Hormones Phase 4
17 Anti-Inflammatory Agents Phase 4
18 Ophthalmic Solutions Phase 4
19 Hormone Antagonists Phase 4
20 glucocorticoids Phase 4
21 Antineoplastic Agents, Hormonal Phase 4
22 Analgesics Phase 4
23 Anti-Inflammatory Agents, Non-Steroidal Phase 4
24 Analgesics, Non-Narcotic Phase 4
25 Adrenergic Antagonists Phase 4
26 Adrenergic Agents Phase 4
27 Anti-Arrhythmia Agents Phase 4
28 Adrenergic beta-Antagonists Phase 4
29 Contraceptive Agents Phase 4
30 Neurotransmitter Agents Phase 4
31 Antihypertensive Agents Phase 4
32 Carbonic Anhydrase Inhibitors Phase 4
33 Gastrointestinal Agents Phase 4
34 Antiemetics Phase 4
35 Anti-Bacterial Agents Phase 4
36 Antibiotics, Antitubercular Phase 4
37 Anti-Infective Agents Phase 4
38 calcium heparin Phase 4
39
Triamcinolone Approved, Vet_approved Phase 2, Phase 3 124-94-7 31307
40
Apraclonidine Approved Phase 3 66711-21-5 2216
41 Lubricant Eye Drops Phase 3
42 Triamcinolone hexacetonide Phase 2, Phase 3
43 Triamcinolone diacetate Phase 2, Phase 3
44 Immunosuppressive Agents Phase 2, Phase 3
45 triamcinolone acetonide Phase 2, Phase 3
46 Brimonidine Tartrate Phase 3 70359-46-5
47 Proxymetacaine Phase 3
48
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
49
Epirubicin Approved Phase 2 56420-45-2 41867
50
Pancrelipase Approved, Investigational Phase 2 53608-75-6

Interventional clinical trials:

(show top 50) (show all 67)
# Name Status NCT ID Phase Drugs
1 A Prospective, Randomized Evaluation of Subjects With Open-angle Glaucoma, Pseudoexfoliative Glaucoma, or Ocular Hypertension Naïve to Medical and Surgical Therapy, Treated With Two Trabecular Micro-bypass Stents (iStent Inject) or Travoprost Ophthalmic Solution 0.004% Unknown status NCT01444040 Phase 4 Travoprost
2 A Randomised Controlled Trial to Compare the Clinical Effectiveness of Selective Laser Trabeculoplasty (SLT) Versus Topical Therapy in the Treatment of Pseudoexfoliative Glaucoma Unknown status NCT01704989 Phase 4 Prostagladin
3 24-Hour Intraocular Pressure Control Obtained With the Bimatoprost/Timolol Fixed Combination Compared With Latanoprost as First Choice Therapy in Subjects With Exfoliation Syndrome, or Exfoliative Glaucoma Completed NCT01448837 Phase 4 Bimatoprost/Timolol, 24-hour intraocular pressure monitoring;Latanoprost, 24-hour intraocular pressure monitoring
4 The Reggio Emilia Study on Bromfenac for Patients With PseudoEXfoliation Syndrome Undergoing Cataract Surgery: the REPEX Study Completed NCT02137161 Phase 4 Dexamethasone+Tobramycin eye drop;Bromfenac eye drop
5 Efficacy Of The Bimatoprost/Timolol Fixed Combination In Patients Treated With Bimatoprost for Primary Open Angle Glaucoma, Exfoliation Glaucoma or Ocular Hypertension. Completed NCT00941096 Phase 4 Bimatoprost and Bimatoprost/Timolol fixed combination.
6 A Prospective, Randomized Evaluation of Subjects With Open-angle Glaucoma, Pseudoexfoliative Glaucoma, or Ocular Hypertension Naïve to Medical and Surgical Therapy, Treated With Two Trabecular Micro-bypass Stents (iStent) or Travoprost Ophthalmic Solution 0.004% Completed NCT01443988 Phase 4 Travoprost
7 A 3-month, 4-centre, Crossover, Double-masked Study Investigating the 24-hour Intraocular Pressure Control With the Bimatoprost/Timolol Fixed Combination Dosed Morning, or Evening in Subjects With Exfoliative Glaucoma Completed NCT00486486 Phase 4 Drug: bimatoprost/timolol fixed combination AM;Bimatoprost/timolol fixed combination dosed PM
8 24-hour IOP Control With the Travoprost/Timolol Fixed Combination Compared With the Latanoprost/Timolol Fixed Combination, When Both Are Dosed in the Evening in Patients With Exfoliative Glaucoma Completed NCT00757835 Phase 4 treatment with latanoprost/timolol fixed combination;latanoprost/timolol fixed combination drops
9 A Randomized Post-Marketing Efficacy And Safety Study Of Xalatan Compared With "Usual Care" Over 36 Months In Patients With Primary Open-Angle Glaucoma, Exfoliative Glaucoma Or Ocular Hypertension Completed NCT00140062 Phase 4 latanoprost 0.005% (Xalatan)
10 Aqueous Flare of a Hydrophobic Acrylic Single-piece Open-loop IOL With Modified Material Surface Properties Completed NCT01767012 Phase 4
11 Assessing Cosopt Switch Patients Completed NCT00273442 Phase 4 timolol maleate;dorzolamide/timolol maleate fixed combination
12 The Effect of Intracameral Triesence (Triamcinolone Acetonide Injectable Suspension) on Ocular Inflammation After Trabeculectomy, Tube Shunt Implantation or Combined Trabeculectomy With Cataract Surgery Completed NCT00853905 Phase 2, Phase 3 Triesence;balanced salt solution BSS
13 Randomized Multicentre Prospective Study of Selective Laser Trabeculoplasty (SLT) vs. Argon Trabeculoplasty (ALT) in Patients With Pseudoexfoliation Glaucoma and Ocular Hypertension Completed NCT01126203 Phase 3
14 24-Hour Intraocular Pressure (IOP) Control With Travoprost/Timolol Fixed Combination Completed NCT00331240 Phase 3 travoprost/timolol fixed combination;placebo (artificial tears)
15 A Study to Assess the Safety, Efficacy and Tolerability of Rituximab (Mabthera) in Combination With Plasma Exchange (PEX) in Patients With Acute Thrombotic Thrombocytopenic Purpura (TTP) Unknown status NCT00937131 Phase 2 Rituximab
16 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
17 PEXG (Cisplatin, Epirubicin, Capecitabine, Gemcitabine) Versus PDXG (Cisplatin, Docetaxel, Capecitabine, Gemcitabine) in Locally Advanced or Metastatic Pancreatic Adenocarcinoma: A Randomized Phase II Trial Completed NCT00966706 Phase 2 capecitabine;cisplatin;docetaxel;epirubicin hydrochloride;gemcitabine hydrochloride
18 Open-Label, Feasibility Study of Combined Plasma Exchange (PEX), Rituximab, and Corticosteroids in Patients With Acute Idiopathic Pulmonary Fibrosis Exacerbations Completed NCT01266317 Phase 1, Phase 2 Combined Plasma Exchange (PEX), Rituximab, and Corticosteroids
19 A Phase 2, Multicenter, Randomized, Placebo-Controlled, Double-blind Study in Patients With Acquired Thrombotic Thrombocytopenic Purpura (aTTP) to Evaluate the Pharmacokinetics,Safety and Efficacy of rADAMTS-13 (SHP655) Administered in Addition to Standard Of Care (SoC) Treatment Recruiting NCT03922308 Phase 2 SHP655
20 A Multicenter, Open-Label, Phase II Study of Combined Plasma Exchange (PEX), Rituximab, and Corticosteroids in Patients With Acute Idiopathic Pulmonary Fibrosis Exacerbations Withdrawn NCT01524068 Phase 2 Standard Steroid Treatment;The Standard Steroid Treatment, Plasma Exchange and rituximab
21 Kinetic Study of Human Pharmacokinetics in Normal Renal Function, and Renal Insufficiency Subject of Polyethylene Glycol Loxenatide (PEX168)(Open, Non-randomized, Parallel-group) Unknown status NCT02467790 Phase 1 PEX168
22 Prospective Study to Examine the Efficacy of a Capsular Tension Ring (CTR) in Preventing Anterior Capsule Shrinkage After Cataract Surgery in Exfoliation Syndrome (XFS) With no Zonular Weakness Unknown status NCT01455168
23 The Corneal Endothelial Cell Count in Eyes With Pseudoexfoliation Syndrome Unknown status NCT03265457
24 The International Collaborative Exfoliation Syndrome Treatment Study Unknown status NCT00804115 Latanoprost with Pilocarpine vs Timolol or Cosopt
25 Evaluation of LOXL1 Polymorphism in Pseudoexfoliation Syndrome in the Korean Population Unknown status NCT01515735
26 The Possible Association Between Pseudoexfoliation Syndrome and Diabetes Mellitus in an Egyptian Population Unknown status NCT03741153
27 Comparison of the Capsular Stability With Two Different IOL Models in Patients With Pseudoexfoliation Syndrome: an Exploratory Study Unknown status NCT02155478
28 Prediction of Pseudophakodonesis After Uneventful Cataract Surgery Unknown status NCT03751462
29 Measurement of Ocular Tensional Fluctuation by Triggerfish Lens Before and After Cataract Surgery in Patients With Exfoliative Glaucoma Unknown status NCT02658071
30 Glaucoma Including Pseudoexfoliation Syndrome (SFB 539) Unknown status NCT00947869
31 Glaucoma Including Pseudoexfoliation Syndrome (SFB 539) Unknown status NCT00494923
32 Following Patients After Selective and Pascal Laser Trabeculoplasty for Treatment of Chronic Open-Angle Glaucoma Unknown status NCT02679482
33 IOP Monitoring After Trabeculectomy Using iCare Home Unknown status NCT03445806
34 Monitoring of the Intraocular Pressure After Selective Laser Trabeculoplasty Using iCare Home Unknown status NCT03310788
35 Anti-inflammatory Therapy Following Selective Laser Trabeculoplasty (SLT): A Randomized, Masked, Placebo Controlled Study Completed NCT00485108 prednisolone 1%;ketorolac 0.5%;Artificial Tears (Methyl cellulose drops)
36 Pseudoexfoliation Syndrome in Myopes Defined With Optical Low Coherence Reflectometry Completed NCT01637740
37 Clinical Factors Associated With Floppy Iris Signs: a Prospective Study From Two Centers Completed NCT00472888
38 Central Corneal Thickness in Patients With Exfoliation Syndrome, Exfoliative Glaucoma, Exfoliative Glaucoma, Primary Open-angle Glaucoma and Ocular Hypertension Completed NCT01023997
39 Plasma Levels of Matrix Metalloproteinases and Degree of DNA Fragmentation in Patients With Pseudoexfoliation Syndrome and Open-Angle Glaucoma (PEXG) Completed NCT00327613
40 Evaluation of Scanning Laser Polarimetry Findings in Individuals With Exfoliation Syndrome Compared With Normal Controls Completed NCT01022281
41 Study of the Efficacy of a Single Session Micropulse Laser Trabeculoplasty as an Adjunctive Measure in Decreasing Intraocular Pressure in Patients Suffering From Pseudoexfoliation Glaucoma Completed NCT03483402
42 Optical Low Coherence Reflectometry Enables Preoperative Detection of Zonular Weakness in Pseudoexfoliation Syndrome Completed NCT01298895
43 Assessment of Long-term Intraocular Lens (IOL) Decentration and Tilt in Eyes With Pseudoexfoliation Syndrome (PES) Following Cataract Surgery Completed NCT03453827
44 Refractive Outcomes of Phacoemulsification Cataract Surgery in Eyes With Pseudoexfoliation Syndrome Completed NCT04783909
45 Changes in Ocular Rigidity After Trabeculectomy in Patients With POAG or PEX Completed NCT02544646
46 Evaluation of Choroidal Thickness Using Spectral Optical Coherence Tomography in Pseudoexfoliation Glaucoma and Primary Open Angle Glaucoma Completed NCT03373942
47 A 3-month, Observational Study Investigating With Electronic Monitoring the Level of Adherence and Treatment Satisfaction With Latanoprost/Timolol Fixed Combination Versus Unfixed Therapy in Open-angle Glaucoma Completed NCT01281020
48 A Comparison of the Additivity of Brinzolamide Ophthalmic Suspension, 1% (Azopt) and Brimonidine Tartrate Ophthalmic Solution, 0.15% (Alphagan P) to Travoprost Ophthalmic Solution, 0.004% (Travatan) in Patients With Elevated IOP on Travoprost. A Three Month Double-Masked, Multi-Center Trial in the United States Completed NCT00121147 Travatan;Azopt;Alphagan P
49 The Diurnal and Nocturnal Effect of Simbrinza and Timolol on Intraocular Pressure and Ocular Perfusion Pressure Completed NCT02165631
50 A Prospective Cohort Study of Contingency Management Using A Smartphone Application in Patients With Substance Use Disorder Completed NCT04162132

Search NIH Clinical Center for Exfoliation Syndrome

Cochrane evidence based reviews: exfoliation syndrome

Sources

Genetic Tests for Exfoliation Syndrome

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Genetic tests related to Exfoliation Syndrome:

# Genetic test Affiliating Genes
1 Pseudoexfoliation Glaucoma 29 LOXL1
2 Exfoliation Syndrome, Susceptibility to 29
Sources

Anatomical Context for Exfoliation Syndrome

About this section

MalaCards organs/tissues related to Exfoliation Syndrome:

40
Eye, Heart, Endothelial, Skin, Bone, Kidney, Retina
Sources

Publications for Exfoliation Syndrome

About this section

Articles related to Exfoliation Syndrome:

(show top 50) (show all 992)
# Title Authors PMID Year
1
Association of LOXL1 gene with Finnish exfoliation syndrome patients. 57 6 54 61
19343041 2009
2
Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people. 54 6 57
18037624 2008
3
Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. 57 61 6
17690259 2007
4
Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus. 57 61
26307087 2015
5
Solar exposure and residential geographic history in relation to exfoliation syndrome in the United States and Israel. 57 61
25188364 2014
6
Proteomic analysis of exfoliation deposits. 57 61
17389470 2007
7
Clusterin deficiency in eyes with pseudoexfoliation syndrome may be implicated in the aggregation and deposition of pseudoexfoliative material. 57 54
16639006 2006
8
Selective upregulation of the A3 adenosine receptor in eyes with pseudoexfoliation syndrome and glaucoma. 54 57
15914619 2005
9
Exfoliation syndrome in black South Africans. 61 57
12796260 2003
10
Exfoliation syndrome among Azerbaijani. 61 57
12796278 2003
11
Exfoliation syndrome: clinical and genetic features. 57 61
11559859 2001
12
Ocular hemodynamics in pseudoexfoliation syndrome and pseudoexfoliation glaucoma. 57 61
11382627 2001
13
Exfoliation syndrome. 57 61
7369310 1980
14
The basement membrane exfoliation syndrome. 57 61
420639 1979
15
Prevalence of pseudo-exfoliation syndrome in an urban South African clinic population. 61 57
5075128 1972
16
The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome. 57
30986821 2019
17
LOXL1 Hypermethylation in Pseudoexfoliation Syndrome in the Uighur Population. 57
26348632 2015
18
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome. 57
20808326 2011
19
Ocular and systemic pseudoexfoliation syndrome. 57
16678509 2006
20
Risk of glaucoma in ocular hypertension with and without pseudoexfoliation. 57
15745763 2005
21
Factors associated with long-term progression or stability in exfoliation glaucoma. 57
14718291 2004
22
Pseudoexfoliation in a rural population of southern India: the Aravind Comprehensive Eye Survey. 57
12788123 2003
23
Role of transforming growth factor-beta1 and its latent form binding protein in pseudoexfoliation syndrome. 57
11846508 2001
24
Pseudoexfoliative material contains an elastic microfibrillar-associated glycoprotein. 57
3590474 1986
25
Pseudoexfoliation of the lens in Australian Aborigines. 57
889760 1977
26
Racial incidence of pseudoexfoliation of the lens capsule. 57
5069187 1972
27
Pseudo-exfoliation of the lens capsule: relation to true exfoliation of the lens capsule as reported in the literature and role in the production of glaucoma capsulocuticulare. 57
13114317 1954
28
Ethnicity-based subgroup meta-analysis of the association of LOXL1 polymorphisms with glaucoma. 61 54
20142848 2010
29
Evaluation of MMP1 and MMP3 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma. 54 61
20038976 2009
30
Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population. 54 61
19936304 2009
31
From epidemiology to lysyl oxidase like one (LOXL1) polymorphisms discovery: phenotyping and genotyping exfoliation syndrome and exfoliation glaucoma in Iceland. 54 61
19664108 2009
32
Association of LOXL1 polymorphisms with pseudoexfoliation in the Chinese. 54 61
19503743 2009
33
Evaluation of LOXL1 polymorphisms in eyes with exfoliation glaucoma in Japanese. 54 61
18648524 2008
34
Lysyl oxidase-like 1 gene polymorphisms in Japanese patients with primary open angle glaucoma and exfoliation syndrome. 61 54
18636115 2008
35
Association of LOXL1 common sequence variants in German and Italian patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. 61 54
18385063 2008
36
Evaluation of LOXL1 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma. 54 61
18385788 2008
37
Lysyl oxidase-like 1 polymorphisms and exfoliation syndrome in the Japanese population. 61 54
18201684 2008
38
Elastosis of the lamina cribrosa in glaucomatous optic neuropathy. 54 61
9878213 1998
39
Elastosis of the lamina cribrosa in pseudoexfoliation syndrome with glaucoma. 54 61
7777294 1995
40
[Effects of porcine pancreatic elastase-1 on elastin in human trabecular meshwork--immunohistochemical studies: Report 4. Pseudoexfoliation glaucoma]. 54 61
8030566 1994
41
Long-term follow-up of intraocular pressure and pressure-lowering medication in patients following Excimer laser trabeculotomy. 61
33289863 2021
42
Correlation of the intronic LOXL1 polymorphism rs11638944 with pseudoexfoliation syndrome and glaucoma in a Greek population. 61
33792495 2021
43
Early-onset Exfoliation Syndrome: A Literature Synthesis. 61
33449585 2021
44
Response to Letter to the Editor: Peripapillary and Macular Vessel Density Measurement With Optical Coherence Angiography in Exfoliation Syndrome. 61
33273283 2021
45
Letter to the Editor: Peripapillary and Macular Vessel Density Measurement With Optical Coherence Angiography in Exfoliation Syndrome. 61
33273286 2021
46
[Results of filtering trabeculotomy (FTO) compared to conventional trabeculectomy (TE)-a matched case control study]. 61
33779826 2021
47
Macular pigment optical density change analysis in primary open-angle glaucoma and pseudoexfoliation glaucoma. 61
33759069 2021
48
Significant lifespan difference between primary open-angle glaucoma and pseudoexfoliation glaucoma. 61
33763607 2021
49
Comparison of Lamina Cribrosa Curvature in Pseudoexfoliation and Primary Open-Angle Glaucoma. 61
32971024 2021
50
Evaluation of serum and aqueous humor klotho levels in pseudoexfoliation syndrome, pseudoexfoliation and primary open-angle glaucoma. 61
33738657 2021
Sources

Variations for Exfoliation Syndrome

About this section

ClinVar genetic disease variations for Exfoliation Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LTBP2 NM_000428.3(LTBP2):c.1999A>C (p.Ile667Leu) SNV Likely pathogenic 126953 rs137854859 GRCh37: 14:74995814-74995814
GRCh38: 14:74529111-74529111
2 LTBP2 NM_000428.3(LTBP2):c.4699A>G (p.Met1567Val) SNV Likely pathogenic 132837 rs137854864 GRCh37: 14:74970193-74970193
GRCh38: 14:74503490-74503490
3 LOXL1-AS1 , LOXL1 NM_005576.4(LOXL1):c.422G>T (p.Arg141Leu) SNV risk factor 14360 rs1048661 GRCh37: 15:74219546-74219546
GRCh38: 15:73927205-73927205
4 LOXL1-AS1 , LOXL1 NM_005576.4(LOXL1):c.458G>A (p.Gly153Asp) SNV risk factor 14361 rs3825942 GRCh37: 15:74219582-74219582
GRCh38: 15:73927241-73927241
5 LOXL1 NM_005576.4(LOXL1):c.1102+1976T>C SNV risk factor 14362 rs2165241 GRCh37: 15:74222202-74222202
GRCh38: 15:73929861-73929861
6 LTBP2 NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) SNV Conflicting interpretations of pathogenicity 126949 rs137854861 GRCh37: 14:75018994-75018994
GRCh38: 14:74552291-74552291
7 LTBP2 NM_000428.3(LTBP2):c.3527-14T>C SNV Uncertain significance 132836 rs137854886 GRCh37: 14:74975446-74975446
GRCh38: 14:74508743-74508743
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Expression for Exfoliation Syndrome

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Search GEO for disease gene expression data for Exfoliation Syndrome.
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Pathways for Exfoliation Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Degradation of the extracellular matrix 65
Show member pathways
 12.15 MMP3 MMP1 LTBP2 LOXL1 LOX FBN1
2
Cell adhesion_Cell-matrix glycoconjugates 23
10.92 MMP3 MMP1 ELN
3
Elastic fibre formation 65
Show member pathways
 10.88 LTBP2 LOXL1 LOX FBN1 ELN
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GO Terms for Exfoliation Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.91 SERPINA3 SEMA6A MMP3 LTBP2 LOXL1 LOX
2 extracellular region GO:0005576 9.9 SERPINA3 OLR1 MMP3 MMP1 LTBP2 LOXL1
3 collagen-containing extracellular matrix GO:0062023 9.5 SERPINA3 LTBP2 LOXL1 FBN1 ELN CLU
4 extracellular matrix GO:0031012 9.23 MMP3 MMP1 LTBP2 LOXL1 LOX FBN1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein complex assembly GO:0031334 9.54 MMP3 MMP1 CLU
2 reverse cholesterol transport GO:0043691 9.48 CLU APOE
3 response to amyloid-beta GO:1904645 9.46 MMP3 CACNA1A
4 negative regulation of amyloid fibril formation GO:1905907 9.43 CLU APOE
5 cellular response to UV-A GO:0071492 9.4 MMP3 MMP1
6 peptidyl-lysine oxidation GO:0018057 9.32 LOXL1 LOX
7 protein import GO:0017038 9.26 CLU APOE
8 positive regulation of amyloid fibril formation GO:1905908 9.16 CLU APOE
9 extracellular matrix organization GO:0030198 9.1 MMP3 MMP1 LOXL1 LOX FBN1 ELN
10 regulation of amyloid-beta clearance GO:1900221 8.96 CLU APOE

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

# Name GO ID Score Top Affiliating Genes
1 amyloid-beta binding GO:0001540 9.43 CLU CACNA1A APOE
2 extracellular matrix constituent conferring elasticity GO:0030023 9.16 FBN1 ELN
3 oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor GO:0016641 8.96 LOXL1 LOX
4 protein-lysine 6-oxidase activity GO:0004720 8.62 LOXL1 LOX
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Sources for Exfoliation Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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