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 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:



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
UMLS 69 C0206368

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...

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:



Diseases related to Exfoliation Syndrome

Symptoms & Phenotypes for Exfoliation Syndrome

Symptoms via clinical synopsis from OMIM:

53
HeadAndNeckEyes:
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 Frequency 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 LOXL1 LYST APOE CACNA1A CLU CNTNAP2
2 homeostasis/metabolism MP:0005376 9.91 APOE CACNA1A CLU FBN1 LOX LOXL1
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

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 130209-82-4 5311221 5282380
2
Timolol Approved Phase 4,Phase 3 26839-75-8 5478 33624
3
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
4
Ephedrine Approved Phase 4 299-42-3 9294
5
Pseudoephedrine Approved Phase 4 90-82-4 7028
6
Tobramycin Approved, Investigational Phase 4 32986-56-4 36294 5496
7
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
8
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
9
Dorzolamide Approved Phase 4 120279-96-1 5284549 3154
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
13 Peripheral Nervous System Agents Phase 4,Phase 3
14 Adrenergic Agents Phase 4,Phase 3
15 Adrenergic Antagonists Phase 4,Phase 3
16 Adrenergic beta-Antagonists Phase 4,Phase 3
17 Anti-Arrhythmia Agents Phase 4,Phase 3
18 Antihypertensive Agents Phase 4,Phase 3,Phase 2
19 Neurotransmitter Agents Phase 4,Phase 3
20 Analgesics Phase 4
21 Analgesics, Non-Narcotic Phase 4
22 Anti-Bacterial Agents Phase 4
23 Antibiotics, Antitubercular Phase 4
24 Antiemetics Phase 4
25 Anti-Infective Agents Phase 4
26 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3
27 Anti-Inflammatory Agents, Non-Steroidal Phase 4
28 Antineoplastic Agents, Hormonal Phase 4
29 Antirheumatic Agents Phase 4
30 BB 1101 Phase 4
31 Dexamethasone acetate Phase 4 1177-87-3
32 Gastrointestinal Agents Phase 4
33 glucocorticoids Phase 4,Phase 2,Phase 3
34 HIV Protease Inhibitors Phase 4
35 Hormone Antagonists Phase 4,Phase 2,Phase 3
36 Hormones Phase 4,Phase 2,Phase 3
37 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3
38 Nasal Decongestants Phase 4
39 Ophthalmic Solutions Phase 4,Phase 3,Phase 2
40 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2
41
protease inhibitors Phase 4
42 Respiratory System Agents Phase 4
43 Tetrahydrozoline Phase 4,Phase 3
44 Vasoconstrictor Agents Phase 4
45 calcium heparin Phase 4
46 Carbonic Anhydrase Inhibitors Phase 4
47
Pilocarpine Approved, Investigational Phase 3 92-13-7, 54-71-7 5910
48
Apraclonidine Approved Phase 3 66711-21-5 2216
49
Dipivefrin Approved Phase 3 52365-63-6 3105
50
Travoprost Approved Phase 3 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

Genetic Tests for Exfoliation Syndrome

Genetic tests related to Exfoliation Syndrome:

# Genetic test Affiliating Genes
1 Pseudoexfoliation Glaucoma 28 LOXL1

Anatomical Context for Exfoliation Syndrome

MalaCards organs/tissues related to Exfoliation Syndrome:

38
Eye, Endothelial, Testes, Retina

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 )
2018
2
Laser Management of Glaucoma in Exfoliation Syndrome. ( 29419644 )
2018
3
Extracellular Matrix Regulation and Dysregulation in Exfoliation Syndrome. ( 29432335 )
2018
4
Exfoliation Syndrome: A Historical Perspective. ( 29419643 )
2018
5
Growth Factors, Oxidative Damage and Inflammation in Exfoliation Syndrome. ( 29401156 )
2018
6
Mechanisms of Glaucoma in Exfoliation Syndrome. ( 29432334 )
2018
7
Current Concepts in True Exfoliation Syndrome. ( 29419645 )
2018
8
Epidemiology of Exfoliation Syndrome. ( 29419641 )
2018
9
Exfoliation syndrome in Northern Nigeria. ( 29440869 )
2018
10
Update on Animal Models of Exfoliation Syndrome. ( 29419647 )
2018
11
Vascular Dysfunction in Exfoliation Syndrome. ( 29419648 )
2018
12
Molecular Biology of Exfoliation Syndrome. ( 29419649 )
2018
13
Nailfold capillary morphology in exfoliation syndrome. ( 28085140 )
2017
14
Genetic risk factors for glaucoma and exfoliation syndrome identified by genome-wide association studies. ( 28721823 )
2017
15
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. ( 28553957 )
2017
16
Peripapillary Perfused Capillary Density in Exfoliation Syndrome and Exfoliation Glaucoma versus POAG and Healthy Controls: An OCTA Study. ( 29165935 )
2017
17
The Prevalence of Exfoliation Syndrome in an Iranian Population Aged 45-69 Years. ( 27253831 )
2016
18
Evaluation of Retinal Nerve Fiber Layer and Ganglion Cell Complex Thickness in Unilateral Exfoliation Syndrome Using Optical Coherence Tomography. ( 26900827 )
2016
19
Risk for Exfoliation Syndrome in Women With Pelvic Organ Prolapse : A Utah Project on Exfoliation Syndrome (UPEXS) Study. ( 27632406 )
2016
20
Reproducibility of the water-drinking test in patients with exfoliation syndrome and exfoliative glaucoma. ( 27316559 )
2016
21
Comparison of retinal nerve fiber layer thickness in patients having pseudo exfoliation syndrome with healthy adults. ( 28083059 )
2016
22
CORRELATION BETWEEN MACULAR CHANGES IN EXFOLIATION SYNDROME AND EXFOLIATIVE GLAUCOMA. ( 27333723 )
2016
23
Major review: Exfoliation syndrome; advances in disease genetics, molecular biology, and epidemiology. ( 27845061 )
2016
24
Efficacy of Topically Administered Rho-Kinase Inhibitor AR-12286 in Patients With Exfoliation Syndrome and Ocular Hypertension or Glaucoma. ( 27552517 )
2016
25
Systemic Associations of Exfoliation Syndrome. ( 26886119 )
2016
26
The Clinical Spectrum and a New Theory of Pathogenesis of True Exfoliation Syndrome. ( 27596291 )
2016
27
Exfoliation Syndrome and Solar Exposure: New Epidemiological Insights Into the Pathophysiology of the Disease. ( 26322422 )
2015
28
Association of clusterin (CLU) variants and exfoliation syndrome: An analysis in two Caucasian studies and a meta-analysis. ( 26272660 )
2015
29
Investigation of phacoemulsification on exfoliation syndrome combined cataract with different nuclear hardness. ( 25684159 )
2015
30
Hearing in older adults with exfoliation syndrome/exfoliation glaucoma or primary open-angle glaucoma. ( 26547142 )
2015
31
Evaluation of Optical Low Coherence Reflectometry Parameters in Patients with Exfoliation Syndrome. ( 26060577 )
2015
32
Corrigendum: a common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. ( 26018902 )
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 )
2015
34
Exfoliation syndrome: a disease with an environmental component. ( 25594763 )
2015
35
Intraocular Pressure Characteristics of Exfoliative Glaucoma and Exfoliation Syndrome as Determined With the Water Drinking Test. ( 25642816 )
2015
36
Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus. ( 26307087 )
2015
37
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. ( 25706626 )
2015
38
The association of LOXL1 polymorphisms with exfoliation syndrome/glaucoma: Meta-analysis. ( 25709925 )
2015
39
The prevalence of exfoliation syndrome in Turkey. ( 26508674 )
2015
40
Clinical Signs and Characteristics of Exfoliation Syndrome and Exfoliative Glaucoma in Northern China. ( 26065350 )
2015
41
Exfoliation syndrome: assembling the puzzle pieces. ( 26648185 )
2015
42
Expression and regulation of LOXL1 and elastin-related genes in eyes with exfoliation syndrome. ( 25275906 )
2014
43
Oxidative stress in dry age-related macular degeneration and exfoliation syndrome. ( 25319011 )
2014
44
The frequency of exfoliation syndrome in the central anatolia region of Turkey. ( 25165574 )
2014
45
Expression and regulation of LOXL1 and elastin-related genes in eyes with exfoliation syndrome. ( 25275910 )
2014
46
Aqueous humour levels of ghrelin in exfoliation syndrome and exfoliation glaucoma patients. ( 24802745 )
2014
47
Solar Exposure and Residential Geographic History in Relation to Exfoliation Syndrome in the United States and Israel. ( 25188364 )
2014
48
Systemic diseases associated with exfoliation syndrome. ( 25171641 )
2014
49
Genetics of exfoliation syndrome and glaucoma. ( 25171643 )
2014
50
Glycomics, extracellular matrix, and anti-glycan antibodies in exfoliation syndrome. ( 25275900 )
2014

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

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 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 for Exfoliation Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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