MCID: EXF001
MIFTS: 55

Exfoliation Syndrome

Categories: Genetic diseases, Eye diseases

Aliases & Classifications for Exfoliation Syndrome

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:



External Ids:

OMIM 57 177650
Disease Ontology 12 DOID:13641
ICD9CM 35 365.52
MeSH 44 D017889
SNOMED-CT 68 111514006 44219007
MedGen 42 C0206368
UMLS 73 C0206368

Summaries for Exfoliation Syndrome

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 central retinal vein occlusion. 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 glaucoma and abnormality of the lens

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...

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 70)
# Related Disease Score Top Affiliating Genes
1 open-angle glaucoma 30.4 ELN LOXL1 MMP1
2 central retinal vein occlusion 29.7 LOXL1 MTHFR
3 retinal vein occlusion 29.5 LOXL1 MTHFR
4 pelvic organ prolapse 29.4 ELN LOX LOXL1 MMP1
5 vascular disease 29.0 APOE ELN MTHFR
6 aneurysm 28.8 ELN FBN1 LOX
7 aortic aneurysm 28.8 ELN FBN1 LOX
8 aortic aneurysm, familial abdominal, 1 28.2 APOE ELN FBN1 MMP1
9 zellweger syndrome 11.3
10 neonatal adrenoleukodystrophy 11.0
11 peroxisome biogenesis disorder 1b 10.9
12 peroxisomal disease 10.9
13 refsum disease, infantile form 10.9
14 peeling skin syndrome 10.9
15 lipoprotein glomerulopathy 10.3 APOE CLU
16 menkes disease 10.3 ELN LOX
17 rickets 10.3
18 cataract 10.2
19 cerebral atherosclerosis 10.2 APOE MTHFR
20 hypophosphatemic rickets, x-linked recessive 10.1
21 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.1 ELN FBN1
22 late-onset focal dermal elastosis 10.1 ELN FBN1
23 familial abdominal aortic aneurysm 10.0 ELN FBN1
24 hypophosphatemic rickets, x-linked dominant 10.0
25 hypophosphatemia 10.0
26 peroxisomal biogenesis disorders 10.0
27 mid-dermal elastolysis 10.0 ELN FBN1
28 retinitis 10.0
29 aortic valve insufficiency 10.0 ELN FBN1
30 sorsby fundus dystrophy 10.0 ELN FBN1
31 supravalvular aortic stenosis 10.0 ELN FBN1
32 osteomalacia 9.9
33 glaucoma, primary open angle 9.9
34 ocular hypertension 9.9
35 varicose veins 9.9 ELN MMP1 MTHFR
36 migraine without aura 9.8 CACNA1A MTHFR
37 carotid stenosis 9.8 APOE MMP1 MTHFR
38 pneumothorax 9.8 ELN FBN1
39 epidermolysis bullosa dystrophica 9.8 FBN1 MMP1
40 aging 9.8
41 pulmonary emphysema 9.8 ELN MMP1
42 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
43 sensorineural hearing loss 9.7
44 aortic disease 9.7 APOE ELN FBN1
45 chronic actinic dermatitis 9.6 ELN FBN1 MMP1
46 aortic aneurysm, familial thoracic 1 9.6 ELN FBN1 MMP1
47 lens subluxation 9.6 FBN1 MTHFR
48 inguinal hernia 9.6 ELN FBN1 MMP1
49 collagen disease 9.6 ELN FBN1
50 mitral valve disease 9.6 FBN1 MMP1

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



Diseases related to Exfoliation Syndrome

Symptoms & Phenotypes for Exfoliation Syndrome

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 8)
# Description HPO Frequency HPO Source Accession
1 glaucoma 32 HP:0000501
2 abnormality of the lens 32 HP:0000517
3 lens subluxation 32 HP:0001132
4 anisocoria 32 HP:0009916
5 phakodonesis 32 HP:0012629
6 pigment deposition in the trabecular meshwork 32 HP:0012631
7 asymmetry of intraocular pressure 32 HP:0012633
8 retinal vein occlusion 32 HP:0012636

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 MTHFR APOE CACNA1A CLU CNTNAP2 FBN1
5 no phenotypic analysis MP:0003012 9.35 APOE CACNA1A FBN1 LYST MTHFR
6 respiratory system MP:0005388 9.1 FBN1 LOX LOXL1 LYST APOE CACNA1A

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
1
Latanoprost Approved, Investigational Phase 4,Not Applicable 130209-82-4 5282380 5311221
2
Timolol Approved Phase 4,Phase 3,Not Applicable 26839-75-8 33624 5478
3
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
4
Ephedrine Approved Phase 4,Not Applicable 299-42-3 9294
5
Pseudoephedrine Approved Phase 4,Not Applicable 90-82-4 7028
6
Tobramycin Approved, Investigational Phase 4 32986-56-4 5496 36294
7
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
8
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
9
Dorzolamide Approved Phase 4 120279-96-1 3154 5284549
10
Bromfenac Approved July 1997 Phase 4 91714-94-2 60726
11
Maleic acid Experimental Phase 4 110-16-7 444266
12 Autonomic Agents Phase 4,Not Applicable
13 Peripheral Nervous System Agents Phase 4,Phase 3,Not Applicable
14 Adrenergic Agents Phase 4,Phase 3,Not Applicable
15 Adrenergic Antagonists Phase 4,Phase 3,Not Applicable
16 Adrenergic beta-Antagonists Phase 4,Phase 3,Not Applicable
17 Anti-Arrhythmia Agents Phase 4,Phase 3,Not Applicable
18 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Not Applicable
19 Neurotransmitter Agents Phase 4,Phase 3,Not Applicable
20 Analgesics Phase 4,Not Applicable
21 Analgesics, Non-Narcotic Phase 4,Not Applicable
22 Anti-Bacterial Agents Phase 4
23 Antibiotics, Antitubercular Phase 4
24 Antiemetics Phase 4,Not Applicable
25 Anti-Infective Agents Phase 4
26 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Not Applicable
27 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Not Applicable
28 Antineoplastic Agents, Hormonal Phase 4,Not Applicable
29 Antirheumatic Agents Phase 4,Not Applicable
30 BB 1101 Phase 4
31 Dexamethasone acetate Phase 4 1177-87-3
32 Gastrointestinal Agents Phase 4,Not Applicable
33 glucocorticoids Phase 4,Phase 2,Phase 3,Not Applicable
34 HIV Protease Inhibitors Phase 4
35 Hormone Antagonists Phase 4,Phase 2,Phase 3,Not Applicable
36 Hormones Phase 4,Phase 2,Phase 3,Not Applicable
37 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Not Applicable
38 Nasal Decongestants Phase 4,Not Applicable
39 Ophthalmic Solutions Phase 4,Phase 3,Phase 2,Not Applicable
40 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Not Applicable
41
protease inhibitors Phase 4
42 Respiratory System Agents Phase 4,Not Applicable
43 Tetrahydrozoline Phase 4,Phase 3,Not Applicable
44 Vasoconstrictor Agents Phase 4,Not Applicable
45 calcium heparin Phase 4
46 Carbonic Anhydrase Inhibitors Phase 4,Not Applicable
47
Pilocarpine Approved, Investigational Phase 3,Not Applicable 54-71-7, 92-13-7 5910
48
Apraclonidine Approved Phase 3 66711-21-5 2216
49
Dipivefrin Approved Phase 3 52365-63-6 3105
50
Travoprost Approved Phase 3,Not Applicable 157283-68-6 5282226

Interventional clinical trials:

(show all 47)
# 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 Changes in Ocular Rigidity After Trabeculectomy in Patients With POAG Recruiting NCT02544646 Not Applicable
38 Early Diagnosis, Pathogenesis and Progression of Open Angle Glaucoma Recruiting NCT00494923
39 Anterior Segment Imaging With Ultrahigh-resolution OCT in Patients With Glaucoma and PEX - a Pilot Study Recruiting NCT02865473 Not Applicable Pilocarpine
40 Measurement of Ocular Tensional Fluctuation by Triggerfish Lens Before and After Cataract Surgery in Patients With Exfoliative Glaucoma Recruiting NCT02658071
41 Natural History of IOL in Pseudo Exfoliation Syndrome Active, not recruiting NCT01255995
42 The Endothelial Count in Pxf Not yet recruiting NCT03265457
43 Efficacy and Safety of Lens Extraction in Patients With Pseudoexfoliation Glaucoma Not yet recruiting NCT03494465 Not Applicable MEDICAL GLAUCOMA TREATMENT
44 Imaging Lens Deposits in Exfoliation Syndrome Terminated NCT02042703
45 Abdominal Aortic Aneurysms and Pseudoexfoliation Syndrome Terminated NCT00546013
46 Intracameral Mydriasis Versus Topical Mydriasis in Cataract Surgery Terminated NCT00690222 Not Applicable
47 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

Genetic Tests for Exfoliation Syndrome

Genetic tests related to Exfoliation Syndrome:

# Genetic test Affiliating Genes
1 Pseudoexfoliation Glaucoma 29 LOXL1

Anatomical Context for Exfoliation Syndrome

MalaCards organs/tissues related to Exfoliation Syndrome:

41
Eye, Endothelial, Testes, Retina

Publications for Exfoliation Syndrome

Articles related to Exfoliation Syndrome:

(show top 50) (show all 304)
# 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
Medical Management of Glaucoma in Exfoliation Syndrome. ( 29965902 )
2018
24
Nailfold capillary morphology in exfoliation syndrome. ( 28085140 )
2017
25
Genetic risk factors for glaucoma and exfoliation syndrome identified by genome-wide association studies. ( 28721823 )
2017
26
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. ( 28553957 )
2017
27
Peripapillary Perfused Capillary Density in Exfoliation Syndrome and Exfoliation Glaucoma versus POAG and Healthy Controls: An OCTA Study. ( 29165935 )
2017
28
The Clinical Spectrum and a New Theory of Pathogenesis of True Exfoliation Syndrome. ( 27596291 )
2016
29
Reproducibility of the water-drinking test in patients with exfoliation syndrome and exfoliative glaucoma. ( 27316559 )
2016
30
The Prevalence of Exfoliation Syndrome in an Iranian Population Aged 45-69 Years. ( 27253831 )
2016
31
Evaluation of Retinal Nerve Fiber Layer and Ganglion Cell Complex Thickness in Unilateral Exfoliation Syndrome Using Optical Coherence Tomography. ( 26900827 )
2016
32
Efficacy of Topically Administered Rho-Kinase Inhibitor AR-12286 in Patients With Exfoliation Syndrome and Ocular Hypertension or Glaucoma. ( 27552517 )
2016
33
CORRELATION BETWEEN MACULAR CHANGES IN EXFOLIATION SYNDROME AND EXFOLIATIVE GLAUCOMA. ( 27333723 )
2016
34
Systemic Associations of Exfoliation Syndrome. ( 26886119 )
2016
35
Major review: Exfoliation syndrome; advances in disease genetics, molecular biology, and epidemiology. ( 27845061 )
2016
36
Risk for Exfoliation Syndrome in Women With Pelvic Organ Prolapse : A Utah Project on Exfoliation Syndrome (UPEXS) Study. ( 27632406 )
2016
37
Comparison of retinal nerve fiber layer thickness in patients having pseudo exfoliation syndrome with healthy adults. ( 28083059 )
2016
38
The Relationship Between Choroidal Expansion and Intraocular Pressure Rise During the Water Drinking Test in Healthy Subjects and Patients With Exfoliation Syndrome. ( 26035419 )
2015
39
Investigation of phacoemulsification on exfoliation syndrome combined cataract with different nuclear hardness. ( 25684159 )
2015
40
The association of LOXL1 polymorphisms with exfoliation syndrome/glaucoma: Meta-analysis. ( 25709925 )
2015
41
Exfoliation syndrome: a disease with an environmental component. ( 25594763 )
2015
42
Clinical Signs and Characteristics of Exfoliation Syndrome and Exfoliative Glaucoma in Northern China. ( 26065350 )
2015
43
Intraocular Pressure Characteristics of Exfoliative Glaucoma and Exfoliation Syndrome as Determined With the Water Drinking Test. ( 25642816 )
2015
44
Association of clusterin (CLU) variants and exfoliation syndrome: An analysis in two Caucasian studies and a meta-analysis. ( 26272660 )
2015
45
Evaluation of Optical Low Coherence Reflectometry Parameters in Patients with Exfoliation Syndrome. ( 26060577 )
2015
46
Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus. ( 26307087 )
2015
47
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. ( 25706626 )
2015
48
Exfoliation Syndrome and Solar Exposure: New Epidemiological Insights Into the Pathophysiology of the Disease. ( 26322422 )
2015
49
Exfoliation syndrome: assembling the puzzle pieces. ( 26648185 )
2015
50
Hearing in older adults with exfoliation syndrome/exfoliation glaucoma or primary open-angle glaucoma. ( 26547142 )
2015

Variations for Exfoliation Syndrome

ClinVar genetic disease variations for Exfoliation Syndrome:

6
(show all 12)
# 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.4699A> G (p.Met1567Val) single nucleotide variant Likely pathogenic rs137854864 GRCh37 Chromosome 14, 74970193: 74970193
12 LTBP2 NM_000428.2(LTBP2): c.4699A> G (p.Met1567Val) single nucleotide variant Likely pathogenic rs137854864 GRCh38 Chromosome 14, 74503490: 74503490

Expression for Exfoliation Syndrome

Search GEO for disease gene expression data for Exfoliation Syndrome.

Pathways for Exfoliation Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.01 ELN FBN1 LOX LOXL1 MMP1
2
Show member pathways
10.79 ELN FBN1 LOX LOXL1
3 10.75 ELN MMP1

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 extracellular matrix GO:0031012 9.1 APOE CLU ELN FBN1 LOXL1 MMP1
3 amyloid-beta complex GO:0106003 8.96 APOE CLU

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.67 APOE FBN1 MMP1
2 blood circulation GO:0008015 9.52 ELN MTHFR
3 collagen fibril organization GO:0030199 9.51 LOX LOXL1
4 extracellular matrix disassembly GO:0022617 9.5 ELN FBN1 MMP1
5 transmission of nerve impulse GO:0019226 9.48 CACNA1A CNTNAP2
6 aorta development GO:0035904 9.46 LOX LOXL1
7 extracellular matrix organization GO:0030198 9.46 ELN FBN1 LOX LOXL1
8 reverse cholesterol transport GO:0043691 9.43 APOE CLU
9 elastic fiber assembly GO:0048251 9.4 LOX LOXL1
10 negative regulation of amyloid-beta formation GO:1902430 9.37 APOE CLU
11 protein import GO:0017038 9.26 APOE CLU
12 positive regulation of amyloid fibril formation GO:1905908 8.96 APOE CLU
13 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 9.5 CLU FBN1 MTHFR
2 low-density lipoprotein particle receptor binding GO:0050750 9.26 APOE CLU
3 tau protein binding GO:0048156 9.16 APOE CLU
4 protein-lysine 6-oxidase activity GO:0004720 8.96 LOX LOXL1
5 oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor GO:0016641 8.62 LOX LOXL1

Sources for Exfoliation Syndrome

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
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