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XFS
MCID: EXF001
MIFTS: 57

Exfoliation Syndrome (XFS)

Categories: Eye diseases, Genetic 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 75 44 15 40 73
Pseudoexfoliation Glaucoma 57 12 29 55 6
Pseudoexfoliation Syndrome 57 12 75 55
Exfoliation Syndrome, Susceptibility to 57 13 6
Pseudoexfoliation of the Lens 57 75
Exfoliation Glaucoma 57 75
Xfs 57 75
Xfg 57 75
Pseudoexfoliation Glaucoma; Pexg 57
Pseudoexfoliation Syndrome; Pexs 57
Pseudo-Exfoliation Syndrome 75
Exfoliation Glaucoma; Xfg 57
Exfoliative Syndrome 75
Glaucoma Capsulare 75
Pexg 57
Pexs 57
Pex 75

Characteristics:

OMIM:

57
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:

32
exfoliation syndrome:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Eye diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 57 177650
Disease Ontology 12 DOID:13641
ICD9CM 35 365.52
MeSH 44 D017889
NCIt 50 C129025
SNOMED-CT 68 44219007
MedGen 42 C0206368
UMLS 73 C0206368
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Summaries for Exfoliation Syndrome

About this section
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)

MalaCards based summary : Exfoliation Syndrome, also known as pseudoexfoliation glaucoma, is related to open-angle glaucoma and pelvic organ prolapse. 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 cataract and rigidity

UniProtKB/Swiss-Prot : 75 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 : 76 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 89)
# Related Disease Score Top Affiliating Genes
1 open-angle glaucoma 30.4 MMP1 LOXL1 ELN
2 pelvic organ prolapse 29.7 MMP1 LOXL1 LOX ELN
3 central retinal vein occlusion 29.6 MTHFR LOXL1
4 retinal vein occlusion 29.6 MTHFR LOXL1
5 inguinal hernia 29.6 ELN FBN1 MMP1
6 vascular disease 29.5 MTHFR ELN APOE
7 aortic aneurysm 29.4 LOX FBN1 ELN
8 aortic aneurysm, familial abdominal, 1 29.2 MMP1 FBN1 ELN APOE
9 peroxisome biogenesis disorder 1b 11.2
10 zellweger syndrome 11.2
11 neonatal adrenoleukodystrophy 11.2
12 peroxisomal disease 11.0
13 refsum disease, infantile form 11.0
14 peeling skin syndrome 11.0
15 rickets 10.4
16 cataract 10.4
17 hypophosphatemic rickets, x-linked recessive 10.3
18 senile cataract 10.2
19 hypophosphatemic rickets, x-linked dominant 10.2
20 hypophosphatemia 10.2
21 cutis laxa, autosomal recessive, type ib 10.2 LOX ELN
22 autosomal recessive cutis laxa type i 10.2 LOX ELN
23 osteomalacia 10.1
24 peroxisomal biogenesis disorders 10.1
25 menkes disease 10.1 LOX ELN
26 lipoprotein glomerulopathy 10.1 CLU APOE
27 glaucoma, primary open angle 10.1
28 ocular hypertension 10.1
29 cerebral atherosclerosis 10.1 MTHFR APOE
30 ischemic heart disease 10.1 MTHFR APOE
31 pancreatic neuroendocrine tumor 10.0 CLU CACNA1A
32 late-onset focal dermal elastosis 10.0 FBN1 ELN
33 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.0 FBN1 ELN
34 familial abdominal aortic aneurysm 10.0 ELN FBN1
35 3-methylglutaconic aciduria, type iii 10.0
36 helicobacter pylori infection 10.0
37 primary angle-closure glaucoma 10.0
38 mid-dermal elastolysis 10.0 FBN1 ELN
39 autosomal recessive cutis laxa type iii 10.0 FBN1 ELN
40 pulmonary emphysema 10.0 MMP1 ELN
41 supravalvular aortic stenosis 10.0 FBN1 ELN
42 aortic valve insufficiency 10.0 FBN1 ELN
43 acute liver failure 10.0
44 sleeping sickness 10.0
45 low tension glaucoma 10.0
46 patellofemoral pain syndrome 10.0
47 oncogenic osteomalacia 10.0
48 sorsby fundus dystrophy 10.0 FBN1 ELN
49 varicose veins 10.0 ELN MMP1 MTHFR
50 carotid stenosis 9.9 MTHFR MMP1 APOE

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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Symptoms via clinical synopsis from OMIM:

57
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:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 cataract 32 HP:0000518
2 rigidity 32 HP:0002063
3 glaucoma 32 HP:0000501
4 lens subluxation 32 HP:0001132
5 mydriasis 32 HP:0011499
6 pigment deposition in the trabecular meshwork 32 HP:0012631
7 retinal vein occlusion 32 HP:0012636
8 anisocoria 32 HP:0009916
9 asymmetry of intraocular pressure 32 HP:0012633
10 pseudoexfoliation 32 HP:0012627
11 phakodonesis 32 HP:0012629
12 iris hypoperfusion 32 HP:0012635

MGI Mouse Phenotypes related to Exfoliation Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 APOE CACNA1A CLU CNTNAP2 FBN1 LOX
2 homeostasis/metabolism MP:0005376 9.97 APOE CACNA1A CLU FBN1 LOX LOXL1
3 integument MP:0010771 9.86 APOE CACNA1A CNTNAP2 FBN1 LOX LOXL1
4 nervous system MP:0003631 9.76 APOE CACNA1A CLU CNTNAP2 FBN1 LOXL1
5 no phenotypic analysis MP:0003012 9.35 APOE CACNA1A FBN1 LYST MTHFR
6 respiratory system MP:0005388 9.1 APOE CACNA1A FBN1 LOX LOXL1 LYST
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 89)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Latanoprost Approved, Investigational Phase 4,Not Applicable 130209-82-4 5311221 5282380
2
Timolol Approved Phase 4,Phase 3,Not Applicable 26839-75-8 33624 5478
3
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
4
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
5
Tobramycin Approved, Investigational Phase 4 32986-56-4 36294 5496
6
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
7
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
8
Dorzolamide Approved Phase 4 120279-96-1 5284549 3154
9
Bromfenac Approved July 1997 Phase 4 91714-94-2 60726
10
Maleic acid Experimental Phase 4 110-16-7 444266
11 Autonomic Agents Phase 4,Not Applicable
12 Peripheral Nervous System Agents Phase 4,Phase 3,Not Applicable
13 Adrenergic beta-Antagonists Phase 4,Phase 3,Not Applicable
14 Anti-Arrhythmia Agents Phase 4,Phase 3,Not Applicable
15 Adrenergic Agents Phase 4,Phase 3,Not Applicable
16 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Not Applicable
17 Neurotransmitter Agents Phase 4,Phase 3,Not Applicable
18 Adrenergic Antagonists Phase 4,Phase 3,Not Applicable
19 Analgesics Phase 4,Not Applicable
20
protease inhibitors Phase 4
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Not Applicable
22 Anti-Bacterial Agents Phase 4
23 Hormone Antagonists Phase 4,Phase 2,Phase 3,Not Applicable
24 Antineoplastic Agents, Hormonal Phase 4,Not Applicable
25 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Not Applicable
26 glucocorticoids Phase 4,Phase 2,Phase 3,Not Applicable
27 Antibiotics, Antitubercular Phase 4
28 Hormones Phase 4,Phase 2,Phase 3,Not Applicable
29 Anti-Infective Agents Phase 4
30 Antirheumatic Agents Phase 4,Not Applicable
31 HIV Protease Inhibitors Phase 4
32 BB 1101 Phase 4
33 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Not Applicable
34 Antiemetics Phase 4,Not Applicable
35 Analgesics, Non-Narcotic Phase 4,Not Applicable
36 Ophthalmic Solutions Phase 4,Phase 3,Phase 2,Not Applicable
37 Gastrointestinal Agents Phase 4,Not Applicable
38 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Not Applicable
39 calcium heparin Phase 4
40 Carbonic Anhydrase Inhibitors Phase 4,Not Applicable
41
Pilocarpine Approved, Investigational Phase 3,Not Applicable 54-71-7, 92-13-7 5910
42
Apraclonidine Approved Phase 3 66711-21-5 2216
43
Dipivefrin Approved Phase 3 52365-63-6 3105
44
Travoprost Approved Phase 3,Not Applicable 157283-68-6 5282226
45
Triamcinolone Approved, Vet_approved Phase 2, Phase 3 124-94-7 31307
46 Anesthetics, Local Phase 3
47 Brimonidine Tartrate Phase 3,Not Applicable 70359-46-5
48 Central Nervous System Depressants Phase 3
49 Anesthetics Phase 3
50 Proxymetacaine Phase 3

Interventional clinical trials:

(show all 50)
# 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 Randomized Prospective Study of Selective Laser Trabeculoplasty (SLT) Versus Argon Trabeculoplasty (ALT) in Patients With Pseudoexfoliation Glaucoma and Ocular Hypertension Completed NCT01126203 Phase 3
7 24-Hour Intraocular Pressure (IOP) Control With Travoprost/Timolol Fixed Combination Completed NCT00331240 Phase 3 travoprost/timolol fixed combination;placebo (artificial tears)
8 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
9 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
10 Efficacy of a Capsular Tension Ring in Preventing Anterior Capsule Shrinkage After Cataract Surgery in Exfoliation Syndrome Unknown status NCT01455168
11 LOXL1 Polymorphism in Pseudoexfoliation Syndrome Unknown status NCT01515735
12 The International Collaborative Exfoliation Syndrome Treatment Study Unknown status NCT00804115 Not Applicable 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 Not Applicable
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 Not Applicable
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 Micropulse Laser Trabeculoplasty as Adjunctive Treatment in Patients With Pseudoexfoliation Glaucoma Completed NCT03483402 Not Applicable
21 Optical Low Coherence Reflectometry Enables Preoperative Detection of Zonular Weakness in Pseudoexfoliation Syndrome Completed NCT01298895
22 Long-term Intraocular Lens (IOL) Decentration and Tilt in Eyes With Pseudoexfoliation Syndrome (PES) Following Cataract Surgery Completed NCT03453827
23 Plasma Levels of Matrix Metalloproteinases (MMPs) and Degree of DNA Fragmentation in Pseudoexfoliation (PEX) Glaucoma Completed NCT00327613
24 The Effect of Pseudoexfoliation on Choroidal Thickness in Open Angle Glaucoma Completed NCT03373942
25 Anti-inflammatory Therapy Following Selective Laser Trabeculoplasty Completed NCT00485108 Not Applicable prednisolone 1%;ketorolac 0.5%;Artificial Tears (Methyl cellulose drops)
26 Adherence With Fixed Versus Unfixed Glaucoma Therapy Completed NCT01281020
27 Additivity Study: Additive Effect on Eye Pressure of Azopt and Alphagan P to Travatan Completed NCT00121147 Not Applicable Travatan;Azopt;Alphagan P
28 The Diurnal and Nocturnal Effect of Simbrinza and Timolol on Intraocular Pressure and Ocular Perfusion Pressure Completed NCT02165631
29 Characteristics and Risk Ratios of Late Intraocular Lens (IOL) Complication Completed NCT02747667
30 AqueSys XEN 45 Glaucoma Implant in Refractory Glaucoma Completed NCT02036541 Not Applicable
31 Clinical Factors Associated Floppy Iris Completed NCT00472888
32 Pigment Dispersion Syndrome With and Without Glaucoma Completed NCT00001152
33 mRNA Expression in Lymphocytes of Glaucoma Patients Completed NCT00327509
34 Investigating the Genetic Basis of Pseudoexfoliation Syndrome and Angle-closure Glaucoma Recruiting NCT03423758
35 IOP Monitoring After Trabeculectomy Using iCare Home Recruiting NCT03445806
36 Monitoring of the IOP After SLT Using iCare Home Recruiting NCT03310788
37 Prediction of Pseudophakodonesis of Intraocular Lenses Recruiting NCT03751462 Not Applicable
38 Changes in Ocular Rigidity After Trabeculectomy in Patients With POAG Recruiting NCT02544646 Not Applicable
39 Early Diagnosis, Pathogenesis and Progression of Open Angle Glaucoma Recruiting NCT00494923
40 Anterior Segment Imaging With Ultrahigh-resolution OCT in Patients With Glaucoma and PEX - a Pilot Study Recruiting NCT02865473 Not Applicable Pilocarpine
41 Measurement of Ocular Tensional Fluctuation by Triggerfish Lens Before and After Cataract Surgery in Patients With Exfoliative Glaucoma Recruiting NCT02658071
42 Natural History of IOL in Pseudo Exfoliation Syndrome Active, not recruiting NCT01255995
43 Optimal Treatment Protocol for Selective Laser Trabeculoplasty Enrolling by invitation NCT03798223 Not Applicable
44 The Endothelial Count in Pxf Not yet recruiting NCT03265457
45 Association Between Pseudoexfoliation Syndrome and Diabetes Mellitus Not yet recruiting NCT03741153
46 Efficacy and Safety of Lens Extraction in Patients With Pseudoexfoliation Glaucoma Not yet recruiting NCT03494465 Not Applicable MEDICAL GLAUCOMA TREATMENT
47 Imaging Lens Deposits in Exfoliation Syndrome Terminated NCT02042703
48 Abdominal Aortic Aneurysms and Pseudoexfoliation Syndrome Terminated NCT00546013
49 Intracameral Mydriasis Versus Topical Mydriasis in Cataract Surgery Terminated NCT00690222 Not Applicable
50 Patch Graft Material Safety and Effectiveness in Covering Glaucoma Drainage Device Tube Terminated NCT01301378 Not Applicable

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
Sources

Anatomical Context for Exfoliation Syndrome

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MalaCards organs/tissues related to Exfoliation Syndrome:

41
Eye, Endothelial, Testes, Skin, Brain, Liver, Heart
Sources

Publications for Exfoliation Syndrome

About this section

Articles related to Exfoliation Syndrome:

(show top 50) (show all 414)
# Title Authors Year
1
Extracellular Matrix Regulation and Dysregulation in Exfoliation Syndrome. ( 29432335 )
2018
2
Laser Management of Glaucoma in Exfoliation Syndrome. ( 29419644 )
2018
3
Recent Advances in the Surgical Management of Glaucoma in Exfoliation Syndrome. ( 29965903 )
2018
4
Mechanisms of Glaucoma in Exfoliation Syndrome. ( 29432334 )
2018
5
A Role for Clusterin in Exfoliation Syndrome and Exfoliation Glaucoma? ( 29965900 )
2018
6
LOXL1 Polymorphisms: Genetic Biomarkers that Presage Environmental Determinants of Exfoliation Syndrome. ( 29965898 )
2018
7
Genetics of Exfoliation Syndrome. ( 29965897 )
2018
8
Update on Animal Models of Exfoliation Syndrome. ( 29419647 )
2018
9
Growth Factors, Oxidative Damage and Inflammation in Exfoliation Syndrome. ( 29401156 )
2018
10
Exfoliation syndrome in Northern Nigeria. ( 29440869 )
2018
11
Molecular Biology of Exfoliation Syndrome. ( 29419649 )
2018
12
Exfoliation Syndrome: A Historical Perspective. ( 29419643 )
2018
13
Ocular Findings in Exfoliation Syndrome. ( 29781834 )
2018
14
Exfoliation Syndrome: A Disease of Autophagy and LOXL1 Proteopathy. ( 29547474 )
2018
15
What have we learned about exfoliation syndrome since its discovery by John Lindberg 100 years ago? ( 29567789 )
2018
16
Current Concepts in True Exfoliation Syndrome. ( 29419645 )
2018
17
Vascular Dysfunction in Exfoliation Syndrome. ( 29419648 )
2018
18
A Plasma Metabolomic Signature of the Exfoliation Syndrome Involves Amino Acids, Acylcarnitines, and Polyamines. ( 29450546 )
2018
19
Histopathology of Exfoliation Syndrome. ( 29595556 )
2018
20
Utah Project on Exfoliation Syndrome (UPEXS): Insight Into Systemic Diseases Associated With Exfoliation Syndrome. ( 29965901 )
2018
21
Exfoliation Syndrome and Cataract Surgery. ( 29965904 )
2018
22
Epidemiology of Exfoliation Syndrome. ( 29419641 )
2018
23
Peripapillary Perfused Capillary Density in Exfoliation Syndrome and Exfoliation Glaucoma versus POAG and Healthy Controls: An OCTA Study. ( 29165935 )
2018
24
Medical Management of Glaucoma in Exfoliation Syndrome. ( 29965902 )
2018
25
Transmission electron microscopy study of undescribed material at the anterior lens capsule in exfoliation syndrome. ( 29982898 )
2018
26
Retrobulbar hemodynamics and aqueous humor levels of endothelin-1 in exfoliation syndrome and exfoliation glaucoma. ( 29997432 )
2018
27
Exfoliation syndrome associated with LOXL1 gene polymorphisms in a Black patient from Latin America: a case report. ( 30208148 )
2018
28
Association of Exfoliation Syndrome With Risk of Indirect Inguinal Hernia: The Utah Project on Exfoliation Syndrome. ( 30242396 )
2018
29
Association of LOXL1 gene common sequence variants in Jordanian patients with exfoliation syndrome and exfoliative glaucoma. ( 30364215 )
2018
30
The History of Exfoliation Syndrome. ( 30421589 )
2018
31
Peripapillary Vessel Density in Glaucomatous Eyes: Comparison Between Pseudoexfoliation Glaucoma and Primary Open-angle Glaucoma. ( 30134370 )
2018
32
e-letter-to the Editor to: Park J-H et al "Peripapillary Vessel Density in Glaucomatous Eyes: Comparison between Pseudoexfoliation Glaucoma and Primary Open-Angle Glaucoma". ( 30312279 )
2018
33
A comparison of two optical coherence tomography-angiography devices in pseudoexfoliation glaucoma versus primary open-angle glaucoma and healthy subjects. ( 30318904 )
2018
34
The Incidence of Retinal Vein Occlusion in Patients with Pseudoexfoliation Glaucoma: A Retrospective Cohort Study. ( 30391951 )
2018
35
Investigation of Association between Autophagy-Related Gene Polymorphisms and Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma in a Spanish Population. ( 27960588 )
2018
36
Pseudoexfoliation syndrome and pseudoexfoliation glaucoma in New Zealand Māori. ( 28898564 )
2018
37
Elevated levels of plasma tumor necrosis factor alpha in patients with pseudoexfoliation glaucoma. ( 29398902 )
2018
38
Evaluating selective laser trabeculoplasty versus argon laser trabeculoplasty in pseudoexfoliation glaucoma patients. ( 29426445 )
2018
39
Initial trabeculectomy with 5-fluorouracil with or without subconjunctival bevacizumab in the management of pseudoexfoliation glaucoma. ( 29696466 )
2018
40
Comparison of anterior segment parameters in patients with pseudoexfoliation glaucoma, patients with pseudoexfoliation syndrome, and normal subjects. ( 29846427 )
2018
41
Evaluation of Prelaminar Region and Lamina Cribrosa with Enhanced Depth Imaging Optical Coherence Tomography in Pseudoexfoliation Glaucoma. ( 29988813 )
2018
42
Lack of association between lysyl oxidase-like 1 polymorphism in pseudoexfoliation syndrome and pseudoexfoliation glaucoma in North Indian population. ( 30189755 )
2018
43
Lamina Cribrosa and Choroid Features and Their Relationship to Stage of Pseudoexfoliation Glaucoma. ( 30398627 )
2018
44
Three Single Nucleotide Polymorphisms of LOXL1' in a Turkish Population with Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma. ( 30405941 )
2018
45
The Association of Serum Vitamin D Levels with Pseudoexfoliation Glaucoma/Syndrome. ( 30484415 )
2018
46
Nailfold capillary morphology in exfoliation syndrome. ( 28085140 )
2017
47
Genetic risk factors for glaucoma and exfoliation syndrome identified by genome-wide association studies. ( 28721823 )
2017
48
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. ( 28553957 )
2017
49
Combined microinvasive glaucoma and cataract surgery in patients with pseudoexfoliation glaucoma: Clinical results of a gel stent. ( 28917425 )
2017
50
Levels of cytokines in the aqueous humor of eyes with primary open angle glaucoma, pseudoexfoliation glaucoma and cataract. ( 28465815 )
2017
Sources

Variations for Exfoliation Syndrome

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ClinVar genetic disease variations for Exfoliation Syndrome:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 LOXL1 NM_005576.3(LOXL1): c.422G> T (p.Arg141Leu) single nucleotide variant risk factor rs1048661 GRCh37 Chromosome 15, 74219546: 74219546
2 LOXL1 NM_005576.3(LOXL1): c.422G> T (p.Arg141Leu) single nucleotide variant risk factor rs1048661 GRCh38 Chromosome 15, 73927205: 73927205
3 LOXL1 NM_005576.3(LOXL1): c.458G> A (p.Gly153Asp) single nucleotide variant risk factor rs3825942 GRCh37 Chromosome 15, 74219582: 74219582
4 LOXL1 NM_005576.3(LOXL1): c.458G> A (p.Gly153Asp) single nucleotide variant risk factor rs3825942 GRCh38 Chromosome 15, 73927241: 73927241
5 LOXL1 NM_005576.3(LOXL1): c.1102+1976T> C single nucleotide variant risk factor rs2165241 GRCh37 Chromosome 15, 74222202: 74222202
6 LOXL1 NM_005576.3(LOXL1): c.1102+1976T> C single nucleotide variant risk factor rs2165241 GRCh38 Chromosome 15, 73929861: 73929861
7 LTBP2 NM_000428.2(LTBP2): c.1295C> T (p.Pro432Leu) single nucleotide variant Likely pathogenic rs137854861 GRCh37 Chromosome 14, 75018994: 75018994
8 LTBP2 NM_000428.2(LTBP2): c.1295C> T (p.Pro432Leu) single nucleotide variant Likely pathogenic rs137854861 GRCh38 Chromosome 14, 74552291: 74552291
9 LTBP2 NM_000428.2(LTBP2): c.1999A> C (p.Ile667Leu) single nucleotide variant Likely pathogenic rs137854859 GRCh37 Chromosome 14, 74995814: 74995814
10 LTBP2 NM_000428.2(LTBP2): c.1999A> C (p.Ile667Leu) single nucleotide variant Likely pathogenic rs137854859 GRCh38 Chromosome 14, 74529111: 74529111
11 LTBP2 NM_000428.2(LTBP2): c.3527-14T> C single nucleotide variant Uncertain significance rs137854886 GRCh37 Chromosome 14, 74975446: 74975446
12 LTBP2 NM_000428.2(LTBP2): c.3527-14T> C single nucleotide variant Uncertain significance rs137854886 GRCh38 Chromosome 14, 74508743: 74508743
13 LTBP2 NM_000428.2(LTBP2): c.4699A> G (p.Met1567Val) single nucleotide variant Likely pathogenic rs137854864 GRCh37 Chromosome 14, 74970193: 74970193
14 LTBP2 NM_000428.2(LTBP2): c.4699A> G (p.Met1567Val) single nucleotide variant Likely pathogenic rs137854864 GRCh38 Chromosome 14, 74503490: 74503490
Sources

Expression for Exfoliation Syndrome

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

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 66
Show member pathways
 12.01 ELN FBN1 LOX LOXL1 MMP1
2
Elastic fibre formation 66
Show member pathways
 10.79 ELN FBN1 LOX LOXL1
3
Cell adhesion_Cell-matrix glycoconjugates 22
10.75 ELN MMP1
Sources

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 region GO:0005576 9.7 APOE CLU ELN FBN1 LOX LOXL1
2 collagen-containing extracellular matrix GO:0062023 9.35 APOE CLU ELN FBN1 LOXL1
3 extracellular matrix GO:0031012 9.17 APOE CLU ELN FBN1 LOX LOXL1

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

# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.63 APOE FBN1 MMP1
2 blood circulation GO:0008015 9.48 ELN MTHFR
3 aorta development GO:0035904 9.43 LOX LOXL1
4 transmission of nerve impulse GO:0019226 9.4 CACNA1A CNTNAP2
5 reverse cholesterol transport GO:0043691 9.37 APOE CLU
6 negative regulation of amyloid-beta formation GO:1902430 9.32 APOE CLU
7 peptidyl-lysine oxidation GO:0018057 9.26 LOX LOXL1
8 protein import GO:0017038 9.16 APOE CLU
9 positive regulation of amyloid fibril formation GO:1905908 8.96 APOE CLU
10 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 protein-containing complex binding GO:0044877 9.56 APOE CLU FBN1 MTHFR
2 low-density lipoprotein particle receptor binding GO:0050750 9.37 APOE CLU
3 tau protein binding GO:0048156 9.32 APOE CLU
4 extracellular matrix constituent conferring elasticity GO:0030023 9.16 ELN FBN1
5 oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor GO:0016641 8.96 LOX LOXL1
6 protein-lysine 6-oxidase activity GO:0004720 8.62 LOX LOXL1
Sources

Sources for Exfoliation Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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