MCID: EXF001
MIFTS: 57

Exfoliation Syndrome

Categories: Genetic diseases, Eye diseases

Aliases & Classifications for Exfoliation Syndrome

MalaCards integrated aliases for Exfoliation Syndrome:

Name: Exfoliation Syndrome 54 12 71 42 14 69
Pseudoexfoliation Glaucoma 12 29 52
Pseudoexfoliation Syndrome 12 71 52
Exfoliation Syndrome, Susceptibility to 24 13
Exfoliation Glaucoma 24 71
Xfg 24 71
Pseudoexfoliation of the Lens 71
Pseudo-Exfoliation Syndrome 71
Exfoliative Syndrome 71
Glaucoma Capsulare 71
Pex 71
Xfs 71

Characteristics:

OMIM:

54
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 54 177650
Disease Ontology 12 DOID:13641
ICD9CM 35 365.52
MeSH 42 D017889
SNOMED-CT 64 111514006 44219007
MedGen 40 C0206368
UMLS 69 C0206368

Summaries for Exfoliation Syndrome

OMIM : 54
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 zellweger syndrome and peroxisomal disease, and has symptoms including glaucoma, anisocoria and lens subluxation. 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 Citalopram and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include eye, brain 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 69)
id Related Disease Score Top Affiliating Genes
1 zellweger syndrome 11.2
2 peroxisomal disease 10.8
3 refsum disease, infantile form 10.8
4 peroxisome biogenesis disorder 1b 10.8
5 pars planitis 10.4 APOE MTHFR
6 angular blepharoconjunctivitis 10.4 LOXL1 MTHFR
7 mental retardation, autosomal dominant 45 10.3 APOE CLU
8 islet cell tumor 10.3 APOE MTHFR
9 spinal muscular atrophy, distal, x-linked 3 10.3 ELN LOX
10 bardet-biedl syndrome 8 10.2 ELN MMP1
11 cataract 10.2
12 rickets 10.2
13 elastoma 10.1 ELN FBN1
14 early-onset generalized limb-onset dystonia 10.1 ELN FBN1
15 intra-abdominal lymph node mast cell malignancy 10.1 APOE MMP1 MTHFR
16 familial or sporadic hemiplegic migraine 10.1 ELN FBN1
17 papular elastorrhexis 10.1 ELN FBN1
18 cutis laxa, autosomal dominant 10.1 ELN FBN1
19 sacrococcygeal teratoma 10.0 LOXL1 MTHFR
20 charcot-marie-tooth disease, axonal, type 2cc 10.0 ELN FBN1
21 cavernous hemangioma of face 10.0 GSTT1 LOX
22 hypophosphatemic rickets 10.0
23 pleomorphic liposarcoma 10.0 ELN FBN1
24 open-angle glaucoma 10.0
25 pericarditis 10.0 APOE ELN MTHFR
26 peroxisomal biogenesis disorders 10.0
27 hypophosphatemia 10.0
28 retinitis 10.0
29 hepatocellular adenoma 9.9 GSTT1 MTHFR
30 megacolon 9.9 FBN1 MTHFR
31 familial nephrotic syndrome 9.9 FBN1 MMP1
32 osteomalacia 9.9
33 ocular hypertension 9.8
34 joint disorders 9.8 GSTT1 MTHFR
35 hemoglobin lepore-beta-thalassemia syndrome 9.8 ELN FBN1 MMP1
36 bleeding disorder, platelet-type, 21 9.8 ELN FBN1 MMP1
37 mastoiditis 9.8 ELN FBN1 MMP1
38 spinal cord intramedullary teratoma 9.8 ELN FBN1 LOX
39 separation anxiety disorder 9.7 ELN GSTT1 LOXL1 MMP1
40 sleeping sickness 9.7
41 oncogenic osteomalacia 9.7
42 patellofemoral pain syndrome 9.7
43 vascular disease 9.7
44 sensorineural hearing loss 9.7
45 hypothyroidism, congenital nongoitrous, 5 9.6 APOE FBN1 MTHFR
46 pelvic inflammatory disease 9.6 CACNA1A MTHFR
47 stroke, ischemic 9.6 APOE FBN1 MTHFR
48 choroiditis 9.5
49 glaucoma, normal tension 9.5
50 myopia 9.5

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:

54

Head And Neck- Eyes:
cataract, nuclear
abnormal fibrillar extracellular material in anterior segment tissues
lens pseudoexfoliation
abnormal lens suspensory ligament
lens subluxation
more

Clinical features from OMIM:

177650

Human phenotypes related to Exfoliation Syndrome:

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

MGI Mouse Phenotypes related to Exfoliation Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.92 APOE CACNA1A CLU CNTNAP2 FBN1 LOX
2 homeostasis/metabolism MP:0005376 9.91 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 871)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citalopram Approved Phase 4,Phase 3,Phase 2 59729-33-8 2771
2
Acetaminophen Approved Phase 4,Phase 3,Phase 2 103-90-2 1983
3
Clonidine Approved Phase 4,Phase 3,Phase 2,Phase 1 4205-90-7 2803
4
Amitriptyline Approved Phase 4,Phase 2,Phase 3,Phase 1 50-48-6 2160
5
Cyclobenzaprine Approved Phase 4,Phase 3 303-53-7 2895
6
Aripiprazole Approved, Investigational Phase 4,Phase 2,Phase 3 129722-12-9 60795
7
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
8
Risperidone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 106266-06-2 5073
9
Zolpidem Approved Phase 4 82626-48-0 5732
10 Zotepine Approved Phase 4 26615-21-4
11
Methylphenidate Approved, Investigational Phase 4,Phase 3,Phase 2 113-45-1 4158
12
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 60142-96-3 3446
13
Clozapine Approved Phase 4,Phase 3,Phase 2,Phase 1 5786-21-0 2818
14
Etomidate Approved Phase 4 33125-97-2 36339 667484
15
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2 2078-54-8 4943
16
Ephedrine Approved Phase 4,Phase 3,Phase 2 299-42-3 9294
17
Pseudoephedrine Approved Phase 4,Phase 3,Phase 2 90-82-4 7028
18
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
19
Timolol Approved Phase 4,Phase 3 26839-75-8 33624 5478
20
Pramipexole Approved, Investigational Phase 4,Phase 3,Phase 2 104632-26-0 59868 119570
21
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 137-58-6 3676
22
Ropinirole Approved, Investigational Phase 4,Phase 3,Phase 2 91374-20-8, 91374-21-9 5095 497540
23
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Early Phase 1 50-78-2 2244
24
Menthol Approved Phase 4,Phase 3,Phase 2 2216-51-5 16666
25
Minocycline Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 10118-90-8 5281021
26
Sertraline Approved Phase 4,Phase 1,Phase 2 79617-96-2 68617
27
Epinephrine Approved, Vet_approved Phase 4,Phase 1,Phase 2 51-43-4 5816
28 Racepinephrine Approved Phase 4,Phase 1,Phase 2
29
Haloperidol Approved Phase 4,Phase 3,Phase 2 52-86-8 3559
30
Histamine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 75614-87-8, 51-45-6 774
31
Ethanol Approved Phase 4,Phase 2,Phase 3,Phase 1 64-17-5 702
32
Famotidine Approved Phase 4,Phase 2,Phase 3 76824-35-6 3325
33
Memantine Approved, Investigational Phase 4,Phase 2 19982-08-2 4054
34
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
35
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
36
Iron Approved Phase 4,Phase 3,Phase 2,Phase 1 7439-89-6 23925
37
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-84-3 187
38
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
39
Ropivacaine Approved Phase 4,Phase 3 84057-95-4 71273 175805
40
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2,Phase 1 148553-50-8 5486971
41
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
42
Bupivacaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 2180-92-9, 38396-39-3 2474
43
Donepezil Approved Phase 4,Phase 3,Phase 2 120014-06-4 3152
44
Perphenazine Approved Phase 4,Phase 2,Phase 3,Phase 1 58-39-9 4748
45
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 50-02-2 5743
46
Tobramycin Approved, Investigational Phase 4 32986-56-4 5496 36294
47
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
48
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2 9005-49-6 772 46507594
49
Dorzolamide Approved Phase 4 120279-96-1 3154 5284549
50
Norepinephrine Approved Phase 4,Phase 2,Phase 3,Phase 1 51-41-2 439260

Interventional clinical trials:

(show top 50) (show all 2118)

id Name Status NCT ID Phase Drugs
1 DECARD: Study of Escitalopram in the Prevention of Depression in Patients With Acute Coronary Syndrome Unknown status NCT00140257 Phase 4 Escitalopram
2 Close Kinect Chain Exercise With Kinesio Taping in the Management of Patellofemoral Pain Syndrome Unknown status NCT02241148 Phase 4 Acetaminophen 500mg
3 Pain Relief In Irritable Bowel Syndrome Unknown status NCT02573844 Phase 4 Proklama
4 Study of Escitalopram Versus Placebo in the Treatment of Depressive Syndrome in Alzheimer’s Disease, Vascular Dementia, and Mixed Vascular and Alzheimer’s Dementia Unknown status NCT00229333 Phase 4 Escitalopram
5 Saccharomyces Boulardii in Diarrhea Dominant Irritable Bowel Syndrome Unknown status NCT00543478 Phase 4 Saccharomyces boulardii;Methyl cellulose powder (low viscosity)
6 Myoinositol for the Treatment of Ovarian and Psychiatric Disorder in Polycystic Ovary Syndrome (PCOS) Patients Unknown status NCT01246310 Phase 4
7 Comparison of the Pentax AWS® With the Macintosh Laryngoscopic Intubation in Obstructive Sleep Apnea Syndrome Patients Unknown status NCT01428570 Phase 4
8 Study of Clonidine on Sleep Architecture in Children With Tourette's Syndrome (TS) and Comorbid ADHD Unknown status NCT00152750 Phase 4 APO-clonidine
9 Magnetic Stimulation as a Treatment for Auditory Hallucinations in Schizophrenia Unknown status NCT00186771 Phase 4
10 Cyclobenzaprine Extended Release (ER) for Fibromyalgia Unknown status NCT01041495 Phase 4 cyclobenzaprine ER (AMRIX);placebo
11 Tolerance and Effect of Antipsychotics in Children and Adolescents With Psychosis Unknown status NCT01119014 Phase 4 Aripiprazole;Quetiapine
12 Risperidone and Zotepine in the Treatment of Delirium Unknown status NCT00622011 Phase 4 Risperidone and Zolpidem for delirium
13 Effects of 'Seroquel-XR' on the Improvement of Neurocognitive Function in People At-risk Mental States(ARMS) Unknown status NCT01250847 Phase 4 Quetiapine(Seroquel-XR) 50~800mg a day
14 Event-related Potentials in Management of Children With Attention-deficit/Hyperactivity Disorder Unknown status NCT01130467 Phase 4 methylphenidate;Atomoxetine
15 Disease-Specific Questionnaire in Assessing Quality of Life in Patients With Gastrointestinal-Related Neuroendocrine Tumors Unknown status NCT00454376 Phase 4
16 A Clinical Trial of Danhong Injection in Treating Acute Ischemic Stroke Unknown status NCT02152280 Phase 4 Danhong Injection;Normal Saline
17 Effects of Gabapentin Enacarbil on Arousals, Heart Rate, Blood Pressure and PLMs in Restless Legs Syndrome Unknown status NCT02424695 Phase 4 Gabapentin Enacarbil (GEn);Placebo
18 Electroconvulsive Therapy (ECT) in Patients With Super Refractory Schizophrenia Unknown status NCT02049021 Phase 4
19 Clinical Study to Evaluate the Efficacy of Anakinra in Patients With Rheumatoid Arthritis and Diabetes Unknown status NCT02236481 Phase 4 Anakinra;TNF alpha inhibitors
20 Efficacy Study of Pentosan Polysulfate Sodium,Hydrodistension and Combination Therapy for Bladder Pain Syndrome Unknown status NCT01895153 Phase 4
21 Efficacy of a Pacemaker Algorithm in Promotion of the Intrinsic Heart Activity. Unknown status NCT00156741 Phase 4
22 Bromfenac to Reduce Inflammation in Patients With Pseudoexfoliation Syndrome After Cataract Surgery Completed NCT02137161 Phase 4 Dexamethasone+Tobramycin eye drop;Bromfenac eye drop
23 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
24 Intraocular Pressure Reduction With the Bimatoprost/Timolol Fixed Combination Completed NCT00941096 Phase 4 Bimatoprost and Bimatoprost/Timolol fixed combination.
25 Aqueous Flare of a Hydrophobic Acrylic Single-piece Open-loop IOL With Modified Material Surface Properties Completed NCT01767012 Phase 4
26 Assessing Cosopt Switch Patients Completed NCT00273442 Phase 4 timolol maleate;dorzolamide/timolol maleate fixed combination
27 Long-term Efficacy, Safety and Tolerability of Pramipexole in Patients With Idiopathic Moderate to Severe Restless Legs Syndrome (RLS) Completed NCT00472199 Phase 4 Pramipexole;Placebo
28 An Open Label Trial of Duloxetine in the Treatment of Irritable Bowel Syndrome and Comorbid Generalized Anxiety Disorder Completed NCT00961298 Phase 4 Duloxetine
29 Open Trial of Duloxetine in Outpatients With Irritable Bowel Syndrome Symptoms and Co-Morbid Major Depression Completed NCT01754493 Phase 4 Duloxetine
30 Treatment of Myofascial Pain Syndrome With Lidocaine Injection and Physical Therapy. Completed NCT01250184 Phase 4 Lidocaine injection
31 A Study of Quetiapine Fumarate Sustained Release in Major Depression With Comorbid Fibromyalgia Syndrome Completed NCT00675896 Phase 4 Quetiapine Fumarate Sustained Release;Placebo
32 Gabapentin Enacarbil (GSK1838262) Adult Restless Leg Syndrome Post Marketing Commitment Study Completed NCT01668667 Phase 4 GSK1838262 600 mg;GSK1838262 450 mg;GSK1838262 300 mg;GSK1838262 Placebo match
33 Treatment of Neonatal Abstinence Syndrome Completed NCT01723722 Phase 4 Methadone;Diluted Deodorized Tincture of Opium
34 A Phase IV Trial With Pramipexole to Investigate the Effects on RLS Symptoms and Sleep Disturbance in Patients With RLS Completed NCT00349531 Phase 4 Pramipexole
35 Paroxetine-CR (Paxil-CR) in the Treatment of Patients With Fibromyalgia Syndrome Completed NCT00610610 Phase 4 Paroxetine CR;Placebo
36 Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission Completed NCT01018056 Phase 4 D-serine;Riluzole;Placebo
37 Post-marketing Study of Gabapentin Enacarbil to Evaluate the Effect in Restless Leg Syndrome (RLS) Patients With Moderate Renal Impairment Completed NCT01981941 Phase 4 Gabapentin enacarbil
38 Low Level Laser Therapy Associated With Exercise in Subacromial Impingement Syndrome Completed NCT02725749 Phase 4
39 Carvedilol Post-intervention Long-term Administration in Large-scale Trial Completed NCT01155635 Phase 4 Carvedilol;No Carvedilol
40 Symptomatic Remission and Social Function in Participants Treated With Paliperidone Extended Release (ER) Completed NCT01577186 Phase 4 Paliperidone ER
41 Effectiveness and Safety of Acupuncture for Climacteric Syndrome in Patients With Breast Cancer Completed NCT01275807 Phase 4
42 Long-term Study Of Ropinirole In Restless Legs Syndrome Completed NCT00329602 Phase 4 Placebo;Ropinirole
43 Riluzole in Fragile X Syndrome Completed NCT00895752 Phase 4 Riluzole
44 Treating Urological Chronic Pelvic Pain Syndrome (UCPPS) Pain Completed NCT02385266 Phase 4 D-Cycloserine;Placebo (for D-cycloserine)
45 Studies of Traditional Chinese Medicine Clinical Efficacy Evaluation Index Completed NCT01502943 Phase 4 Louxiangdan Tongxin granules;TCM granules placebo;Chixiangshen Tongxin granules;TCM granule placebo plus western basis treatment;Western basis treatment
46 Use of Sildenafil (Viagra) to Alter Fatigue, Functional Status and Impaired Cerebral Blood Flow in Patients With CFS Completed NCT00598585 Phase 4 Sildenafil (Viagra);Placebo
47 Escitalopram in Depressive Patients With Acute Coronary Artery Syndrome Completed NCT00419471 Phase 4 Escitalopram;Placebo
48 Curcumin (Tumeric) in the Treatment of Irritable Bowel Syndrome: A Randomized-Controlled Trial Completed NCT00779493 Phase 4
49 Management of Irritable Bowel Syndrome in Primary Care (MIBS Trial) Completed NCT00934973 Phase 4 mebeverine;methylcellulose;placebo
50 EMINEM: Efficacy of Muscoril In NEck Myofascial Syndromes Completed NCT00272532 Phase 4 Thiocolchicoside

Search NIH Clinical Center for Exfoliation Syndrome

Cochrane evidence based reviews: exfoliation syndrome

Genetic Tests for Exfoliation Syndrome

Genetic tests related to Exfoliation Syndrome:

id Genetic test Affiliating Genes
1 Pseudoexfoliation Glaucoma 29
2 Exfoliation Syndrome, Susceptibility to 24 LOXL1

Anatomical Context for Exfoliation Syndrome

MalaCards organs/tissues related to Exfoliation Syndrome:

39
Eye, Brain, Testes, Spinal Cord, Heart, Breast, Prostate

Publications for Exfoliation Syndrome

Articles related to Exfoliation Syndrome:

(show top 50) (show all 281)
id Title Authors Year
1
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. ( 28553957 )
2017
2
Nailfold capillary morphology in exfoliation syndrome. ( 28085140 )
2017
3
Genetic risk factors for glaucoma and exfoliation syndrome identified by genome-wide association studies. ( 28721823 )
2017
4
The Prevalence of Exfoliation Syndrome in an Iranian Population Aged 45-69 Years. ( 27253831 )
2016
5
Reproducibility of the water-drinking test in patients with exfoliation syndrome and exfoliative glaucoma. ( 27316559 )
2016
6
Efficacy of Topically Administered Rho-Kinase Inhibitor AR-12286 in Patients With Exfoliation Syndrome and Ocular Hypertension or Glaucoma. ( 27552517 )
2016
7
Comparison of retinal nerve fiber layer thickness in patients having pseudo exfoliation syndrome with healthy adults. ( 28083059 )
2016
8
Risk for Exfoliation Syndrome in Women With Pelvic Organ Prolapse : A Utah Project on Exfoliation Syndrome (UPEXS) Study. ( 27632406 )
2016
9
Systemic Associations of Exfoliation Syndrome. ( 26886119 )
2016
10
Evaluation of Retinal Nerve Fiber Layer and Ganglion Cell Complex Thickness in Unilateral Exfoliation Syndrome Using Optical Coherence Tomography. ( 26900827 )
2016
11
The Clinical Spectrum and a New Theory of Pathogenesis of True Exfoliation Syndrome. ( 27596291 )
2016
12
CORRELATION BETWEEN MACULAR CHANGES IN EXFOLIATION SYNDROME AND EXFOLIATIVE GLAUCOMA. ( 27333723 )
2016
13
Major review: Exfoliation syndrome; advances in disease genetics, molecular biology, and epidemiology. ( 27845061 )
2016
14
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. ( 25706626 )
2015
15
Corrigendum: a common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. ( 26018902 )
2015
16
The prevalence of exfoliation syndrome in Turkey. ( 26508674 )
2015
17
Investigation of phacoemulsification on exfoliation syndrome combined cataract with different nuclear hardness. ( 25684159 )
2015
18
The association of LOXL1 polymorphisms with exfoliation syndrome/glaucoma: Meta-analysis. ( 25709925 )
2015
19
Exfoliation syndrome: a disease with an environmental component. ( 25594763 )
2015
20
Exfoliation syndrome: assembling the puzzle pieces. ( 26648185 )
2015
21
Exfoliation Syndrome and Solar Exposure: New Epidemiological Insights Into the Pathophysiology of the Disease. ( 26322422 )
2015
22
Clinical Signs and Characteristics of Exfoliation Syndrome and Exfoliative Glaucoma in Northern China. ( 26065350 )
2015
23
Intraocular Pressure Characteristics of Exfoliative Glaucoma and Exfoliation Syndrome as Determined With the Water Drinking Test. ( 25642816 )
2015
24
Hearing in older adults with exfoliation syndrome/exfoliation glaucoma or primary open-angle glaucoma. ( 26547142 )
2015
25
Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus. ( 26307087 )
2015
26
Association of clusterin (CLU) variants and exfoliation syndrome: An analysis in two Caucasian studies and a meta-analysis. ( 26272660 )
2015
27
The Relationship Between Choroidal Expansion and Intraocular Pressure Rise During the Water Drinking Test in Healthy Subjects and Patients With Exfoliation Syndrome. ( 26035419 )
2015
28
Evaluation of Optical Low Coherence Reflectometry Parameters in Patients with Exfoliation Syndrome. ( 26060577 )
2015
29
Solar Exposure and Residential Geographic History in Relation to Exfoliation Syndrome in the United States and Israel. ( 25188364 )
2014
30
Expression and regulation of LOXL1 and elastin-related genes in eyes with exfoliation syndrome. ( 25275906 )
2014
31
The effect of pharmacologic pupillary dilatation on anterior segment parameters in patients with exfoliation syndrome. ( 24646901 )
2014
32
Exfoliation syndrome in sub-Saharan Africa. ( 24844849 )
2014
33
In Vivo Confocal Microscopic Evaluation of Corneas in Patients With Exfoliation Syndrome. ( 25203662 )
2014
34
Oxidative stress in dry age-related macular degeneration and exfoliation syndrome. ( 25319011 )
2014
35
Exfoliation syndrome and systemic cardiovascular diseases. ( 25275916 )
2014
36
Consideration for gene-environment interactions as novel determinants of exfoliation syndrome. ( 25171642 )
2014
37
Animal models of exfoliation syndrome, now and future. ( 25275912 )
2014
38
Proceedings of the 20th Annual Think Tank: "Exfoliation Syndrome: What We Know and Where We Need To Go" September 19-21, 2013 New York, NY. ( 25834846 )
2014
39
Disturbed oxidant/antioxidant balance in aqueous humour of patients with exfoliation syndrome. ( 24859894 )
2014
40
Expression and regulation of LOXL1 and elastin-related genes in eyes with exfoliation syndrome. ( 25275910 )
2014
41
Clinical characteristics and surgical outcomes of phacoemulsification in true exfoliation syndrome. ( 24238944 )
2014
42
Aqueous humour levels of ghrelin in exfoliation syndrome and exfoliation glaucoma patients. ( 24802745 )
2014
43
Prospects for gene-environment interactions in exfoliation syndrome. ( 25275911 )
2014
44
Genetics of exfoliation syndrome and glaucoma. ( 25171643 )
2014
45
LOXL1 Gene Polymorphism With Exfoliation Syndrome/Exfoliation Glaucoma: A Meta-Analysis. ( 25304275 )
2014
46
Glycomics, extracellular matrix, and anti-glycan antibodies in exfoliation syndrome. ( 25275900 )
2014
47
The frequency of exfoliation syndrome in the central anatolia region of Turkey. ( 25165574 )
2014
48
Ocular and systemic manifestations of exfoliation syndrome. ( 25275896 )
2014
49
Systemic diseases associated with exfoliation syndrome. ( 25171641 )
2014
50
Asymmetric dimethyloarginin (ADMA) concentration in the aqueous humor of patients with exfoliation syndrome or exfoliative glaucoma. ( 23330805 )
2013

Variations for Exfoliation Syndrome

ClinVar genetic disease variations for Exfoliation Syndrome:

6
id 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:

id 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:

id 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 9.02 APOE CLU FBN1 LOXL1 MMP1

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

id Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.63 APOE FBN1 MMP1
2 extracellular matrix disassembly GO:0022617 9.5 ELN FBN1 MMP1
3 blood circulation GO:0008015 9.48 ELN MTHFR
4 transmission of nerve impulse GO:0019226 9.43 CACNA1A CNTNAP2
5 reverse cholesterol transport GO:0043691 9.4 APOE CLU
6 aorta development GO:0035904 9.37 LOX LOXL1
7 negative regulation of beta-amyloid formation GO:1902430 9.26 APOE CLU
8 extracellular matrix organization GO:0030198 9.26 ELN FBN1 LOX LOXL1
9 protein import GO:0017038 9.16 APOE CLU
10 regulation of beta-amyloid clearance GO:1900221 8.62 APOE CLU

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

id Name GO ID Score Top Affiliating Genes
1 protein complex binding GO:0032403 9.16 FBN1 MTHFR
2 low-density lipoprotein particle receptor binding GO:0050750 8.96 APOE CLU
3 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
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10 dbSNP
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16 ExPASy
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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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