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XFS
MCID: EXF001
MIFTS: 57

Exfoliation Syndrome (XFS) malady

Categories: Genetic diseases, Eye diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Exfoliation Syndrome

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Aliases & Descriptions for Exfoliation Syndrome:

Name: Exfoliation Syndrome 54 12 66 42 14 69
Pseudoexfoliation Glaucoma 12 29 52
Pseudoexfoliation Syndrome 12 66 52
Exfoliation Syndrome, Susceptibility to 24 13
Exfoliation Glaucoma 24 66
Xfg 24 66
Pseudoexfoliation of the Lens 66
Pseudo-Exfoliation Syndrome 66
Exfoliative Syndrome 66
Glaucoma Capsulare 66
Pex 66
Xfs 66

Characteristics:

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 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
Sources

Summaries for Exfoliation Syndrome

About this section
OMIM : 54 Exfoliation syndrome (XFS) is a common age-related disorder of the extracellular matrix that is frequently associated... (177650) more...

MalaCards based summary : Exfoliation Syndrome, also known as pseudoexfoliation glaucoma, is related to zellweger syndrome and peroxisome biogenesis disorder 1b, 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 Citalopram and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and endothelial, and related phenotypes are homeostasis/metabolism and behavior/neurological

UniProtKB/Swiss-Prot : 66 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 : 71 Pseudoexfoliation syndrome (other names: Exfoliation glaucoma, Pseudoexfoliation glaucoma,... 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 64)
id Related Disease Score Top Affiliating Genes
1 zellweger syndrome 11.2
2 peroxisome biogenesis disorder 1b 11.0
3 peroxisomal disease 10.7
4 peroxisome biogenesis disorder 1a 10.7
5 refsum disease, infantile form 10.7
6 peeling skin syndrome 10.7
7 rickets 10.2
8 cataract 10.2
9 pars planitis 10.1 APOE MTHFR
10 alzheimer disease 19, late onset 10.1 APOE CLU
11 lactocele 10.1 ELN LOXL1 MMP1
12 angular blepharoconjunctivitis 10.1 LOXL1 MTHFR
13 linear focal dermal elastosis 10.1 ELN FBN1
14 acute sensory ataxic neuropathy 10.1 ELN FBN1
15 acute pure sensory neuropathy 10.0 ELN FBN1
16 myopathy-growth delay-intellectual disability-hypospadias syndrome 10.0 ELN FBN1
17 schistosomiasis 10.0 APOE MTHFR
18 benign focal seizures of adolescence 10.0 ELN FBN1
19 esophagitis, eosinophilic, 1 10.0 ELN FBN1
20 hypophosphatemic rickets 10.0
21 open-angle glaucoma 10.0
22 schwannomatosis 10.0 ELN FBN1
23 fecal incontinence 10.0 FBN1 MMP1
24 hypophosphatemia 10.0
25 peroxisomal biogenesis disorders 10.0
26 median neuropathy 9.9 ELN FBN1
27 retinitis 9.9
28 anal spasm 9.9 FBN1 MTHFR
29 adult-onset distal myopathy due to vcp mutation 9.9 ELN FBN1 MMP1
30 myosclerosis, congenital 9.9 FBN1 MTHFR
31 interstitial emphysema 9.9 CACNA1A MTHFR
32 algoneurodystrophy 9.9 ELN FBN1 MMP1
33 cavernous malformation 9.9 ELN FBN1 LOX
34 pericarditis 9.9 APOE ELN MTHFR
35 osteomalacia 9.9
36 ocular hypertension 9.8
37 keratoacanthoma 9.8 ELN FBN1
38 mixed ductal-endocrine carcinoma 9.8 APOE ELN FBN1 MMP1
39 sleeping sickness 9.7
40 oncogenic osteomalacia 9.7
41 patellofemoral pain syndrome 9.7
42 central nervous system teratoma 9.7 APOE ELN FBN1 LOX MMP1
43 houlston ironton temple syndrome 9.7 CLU ELN FBN1 MTHFR
44 vascular disease 9.6
45 sensorineural hearing loss 9.6
46 pigment dispersion syndrome 9.5
47 retinal vascular occlusion 9.5
48 endotheliitis 9.5
49 keratopathy 9.5
50 melanoma 9.5

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 by clinical synopsis from OMIM:

177650

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 lens subluxation 32 HP:0001132
3 pigment deposition in the trabecular meshwork 32 HP:0012631
4 retinal vein occlusion 32 HP:0012636
5 anisocoria 32 HP:0009916
6 phacodonesis 32 HP:0012629
7 asymmetry of intraocular pressure 32 HP:0012633

MGI Mouse Phenotypes related to Exfoliation Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.02 APOE CACNA1A CLU FBN1 LOX LOXL1
2 behavior/neurological MP:0005386 10.01 APOE CACNA1A CLU CNTNAP2 FBN1 LOX
3 integument MP:0010771 9.92 LOXL1 LYST MTHFR APOE CACNA1A CNTNAP2
4 nervous system MP:0003631 9.76 CNTNAP2 FBN1 LOXL1 LYST MTHFR APOE
5 muscle MP:0005369 9.65 APOE CACNA1A CLU FBN1 LOX
6 no phenotypic analysis MP:0003012 9.35 APOE CACNA1A FBN1 LYST MTHFR
7 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 1025)
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 3,Phase 2,Phase 1 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
Donepezil Approved Phase 4,Phase 3,Phase 2 120014-06-4 3152
17
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
18
Olanzapine Approved, Investigational Phase 4,Phase 3,Phase 2 132539-06-1 4585
19
Ziprasidone Approved Phase 4,Phase 3,Phase 2 146939-27-7 60854
20
Ephedrine Approved Phase 4,Phase 3,Phase 2,Phase 1 299-42-3 9294
21
Pseudoephedrine Approved Phase 4,Phase 3,Phase 2,Phase 1 90-82-4 7028
22
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
23
Timolol Approved Phase 4,Phase 3 26839-75-8 33624 5478
24
Pramipexole Approved, Investigational Phase 4,Phase 3,Phase 2 104632-26-0 59868 119570
25
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 137-58-6 3676
26
Ropinirole Approved, Investigational Phase 4,Phase 3,Phase 2 91374-20-8, 91374-21-9 5095 497540
27
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Early Phase 1 50-78-2 2244
28
Menthol Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 2216-51-5 16666
29
Minocycline Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 10118-90-8 5281021
30
Sertraline Approved Phase 4,Phase 1,Phase 2 79617-96-2 68617
31
Epinephrine Approved, Vet_approved Phase 4,Phase 1,Phase 2 51-43-4 5816
32
Haloperidol Approved Phase 4,Phase 3,Phase 2,Phase 1 52-86-8 3559
33
Histamine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 75614-87-8, 51-45-6 774
34
Ethanol Approved Phase 4,Phase 3,Phase 2,Phase 1 64-17-5 702
35
Famotidine Approved Phase 4,Phase 2,Phase 3 76824-35-6 3325
36
Memantine Approved, Investigational Phase 4,Phase 2 19982-08-2 4054
37
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
38
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
39
Iron Approved Phase 4,Phase 3,Phase 2,Phase 1 7439-89-6 23925
40
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-84-3 187
41
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
42
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 76631-46-4, 113775-47-6 68602 5311068 56032
43
Ropivacaine Approved Phase 4,Phase 3 84057-95-4 71273 175805
44
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2,Phase 1 148553-50-8 5486971
45
Interferon beta-1b Approved Phase 4,Phase 2,Phase 3 145155-23-3
46
Oxymetazoline Approved Phase 4,Phase 3,Phase 2,Phase 1 1491-59-4 4636
47
Phenylephrine Approved Phase 4,Phase 3,Phase 2,Phase 1 59-42-7 6041
48
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
49
Zinc Approved Phase 4,Phase 2 7440-66-6 32051 23994
50
Bupivacaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 2180-92-9, 38396-39-3 2474

Interventional clinical trials:

(show top 50) (show all 2853)
id Name Status NCT ID Phase
1 DECARD: Study of Escitalopram in the Prevention of Depression in Patients With Acute Coronary Syndrome Unknown status NCT00140257 Phase 4
2 Close Kinect Chain Exercise With Kinesio Taping in the Management of Patellofemoral Pain Syndrome Unknown status NCT02241148 Phase 4
3 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
4 Saccharomyces Boulardii in Diarrhea Dominant Irritable Bowel Syndrome Unknown status NCT00543478 Phase 4
5 Myoinositol for the Treatment of Ovarian and Psychiatric Disorder in Polycystic Ovary Syndrome (PCOS) Patients Unknown status NCT01246310 Phase 4
6 Comparison of the Pentax AWS® With the Macintosh Laryngoscopic Intubation in Obstructive Sleep Apnea Syndrome Patients Unknown status NCT01428570 Phase 4
7 Study of Clonidine on Sleep Architecture in Children With Tourette's Syndrome (TS) and Comorbid ADHD Unknown status NCT00152750 Phase 4
8 Magnetic Stimulation as a Treatment for Auditory Hallucinations in Schizophrenia Unknown status NCT00186771 Phase 4
9 Cyclobenzaprine Extended Release (ER) for Fibromyalgia Unknown status NCT01041495 Phase 4
10 Tolerance and Effect of Antipsychotics in Children and Adolescents With Psychosis Unknown status NCT01119014 Phase 4
11 Risperidone and Zotepine in the Treatment of Delirium Unknown status NCT00622011 Phase 4
12 Effects of 'Seroquel-XR' on the Improvement of Neurocognitive Function in People At-risk Mental States(ARMS) Unknown status NCT01250847 Phase 4
13 Event-related Potentials in Management of Children With Attention-deficit/Hyperactivity Disorder Unknown status NCT01130467 Phase 4
14 Disease-Specific Questionnaire in Assessing Quality of Life in Patients With Gastrointestinal-Related Neuroendocrine Tumors Unknown status NCT00454376 Phase 4
15 A Clinical Trial of Danhong Injection in Treating Acute Ischemic Stroke Unknown status NCT02152280 Phase 4
16 Effects of Gabapentin Enacarbil on Arousals, Heart Rate, Blood Pressure and PLMs in Restless Legs Syndrome Unknown status NCT02424695 Phase 4
17 Electroconvulsive Therapy (ECT) in Patients With Super Refractory Schizophrenia Unknown status NCT02049021 Phase 4
18 Clinical Study to Evaluate the Efficacy of Anakinra in Patients With Rheumatoid Arthritis and Diabetes Unknown status NCT02236481 Phase 4
19 Efficacy Study of Pentosan Polysulfate Sodium,Hydrodistension and Combination Therapy for Bladder Pain Syndrome Unknown status NCT01895153 Phase 4
20 Efficacy of a Pacemaker Algorithm in Promotion of the Intrinsic Heart Activity. Unknown status NCT00156741 Phase 4
21 Donepezil Treatment for Sleep Apnea Patients Unknown status NCT00912457 Phase 4
22 Efficacy and Safety Study of Guanxin Shutong Capsule to Treat Chronic Stable Angina Unknown status NCT02280850 Phase 4
23 Evaluation of the Effects of Laying Early a Gastric Band on the Prevention of Morbid Obesity Randomized Checked Against Standard Management of Obesity in This Population. Unknown status NCT01700738 Phase 4
24 Tandospirone Combined With Atypical Antipsychotic Drugs in Schizophrenia Unknown status NCT02040883 Phase 4
25 Omega-3 Fatty Acids Efficacy in First-episode of Schizophrenia Unknown status NCT02210962 Phase 4
26 Bromfenac to Reduce Inflammation in Patients With Pseudoexfoliation Syndrome After Cataract Surgery Completed NCT02137161 Phase 4
27 24-Hour Intraocular Pressure Control With Bimatoprost/Timolol Versus Latanoprost as First Choice Completed NCT01448837 Phase 4
28 Intraocular Pressure Reduction With the Bimatoprost/Timolol Fixed Combination Completed NCT00941096 Phase 4
29 Aqueous Flare of a Hydrophobic Acrylic Single-piece Open-loop IOL With Modified Material Surface Properties Completed NCT01767012 Phase 4
30 Assessing Cosopt Switch Patients Completed NCT00273442 Phase 4
31 Long-term Efficacy, Safety and Tolerability of Pramipexole in Patients With Idiopathic Moderate to Severe Restless Legs Syndrome (RLS) Completed NCT00472199 Phase 4
32 An Open Label Trial of Duloxetine in the Treatment of Irritable Bowel Syndrome and Comorbid Generalized Anxiety Disorder Completed NCT00961298 Phase 4
33 Open Trial of Duloxetine in Outpatients With Irritable Bowel Syndrome Symptoms and Co-Morbid Major Depression Completed NCT01754493 Phase 4
34 Treatment of Myofascial Pain Syndrome With Lidocaine Injection and Physical Therapy. Completed NCT01250184 Phase 4
35 A Study of Quetiapine Fumarate Sustained Release in Major Depression With Comorbid Fibromyalgia Syndrome Completed NCT00675896 Phase 4
36 Gabapentin Enacarbil (GSK1838262) Adult Restless Leg Syndrome Post Marketing Commitment Study Completed NCT01668667 Phase 4
37 Treatment of Neonatal Abstinence Syndrome Completed NCT01723722 Phase 4
38 A Phase IV Trial With Pramipexole to Investigate the Effects on RLS Symptoms and Sleep Disturbance in Patients With RLS Completed NCT00349531 Phase 4
39 Paroxetine-CR (Paxil-CR) in the Treatment of Patients With Fibromyalgia Syndrome Completed NCT00610610 Phase 4
40 Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission Completed NCT01018056 Phase 4
41 Post-marketing Study of Gabapentin Enacarbil to Evaluate the Effect in Restless Leg Syndrome (RLS) Patients With Moderate Renal Impairment Completed NCT01981941 Phase 4
42 Low Level Laser Therapy Associated With Exercise in Subacromial Impingement Syndrome Completed NCT02725749 Phase 4
43 Carvedilol Post-intervention Long-term Administration in Large-scale Trial Completed NCT01155635 Phase 4
44 Symptomatic Remission and Social Function in Participants Treated With Paliperidone Extended Release (ER) Completed NCT01577186 Phase 4
45 Effectiveness and Safety of Acupuncture for Climacteric Syndrome in Patients With Breast Cancer Completed NCT01275807 Phase 4
46 Long-term Study Of Ropinirole In Restless Legs Syndrome Completed NCT00329602 Phase 4
47 Riluzole in Fragile X Syndrome Completed NCT00895752 Phase 4
48 Treating Urological Chronic Pelvic Pain Syndrome (UCPPS) Pain Completed NCT02385266 Phase 4
49 Studies of Traditional Chinese Medicine Clinical Efficacy Evaluation Index Completed NCT01502943 Phase 4
50 Escitalopram in Depressive Patients With Acute Coronary Artery Syndrome Completed NCT00419471 Phase 4

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:

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

Anatomical Context for Exfoliation Syndrome

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MalaCards organs/tissues related to Exfoliation Syndrome:

39
Eye, Testes, Endothelial, Retina
Sources

Publications for Exfoliation Syndrome

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Articles related to Exfoliation Syndrome:

(show top 50) (show all 278)
id Title Authors Year
1
Nailfold capillary morphology in exfoliation syndrome. ( 28085140 )
2017
2
Evaluation of Retinal Nerve Fiber Layer and Ganglion Cell Complex Thickness in Unilateral Exfoliation Syndrome Using Optical Coherence Tomography. ( 26900827 )
2016
3
Comparison of retinal nerve fiber layer thickness in patients having pseudo exfoliation syndrome with healthy adults. ( 28083059 )
2016
4
Efficacy of Topically Administered Rho-Kinase Inhibitor AR-12286 in Patients With Exfoliation Syndrome and Ocular Hypertension or Glaucoma. ( 27552517 )
2016
5
Major review: Exfoliation syndrome; advances in disease genetics, molecular biology, and epidemiology. ( 27845061 )
2016
6
Reproducibility of the water-drinking test in patients with exfoliation syndrome and exfoliative glaucoma. ( 27316559 )
2016
7
Systemic Associations of Exfoliation Syndrome. ( 26886119 )
2016
8
Risk for Exfoliation Syndrome in Women With Pelvic Organ Prolapse : A Utah Project on Exfoliation Syndrome (UPEXS) Study. ( 27632406 )
2016
9
The Prevalence of Exfoliation Syndrome in an Iranian Population Aged 45-69 Years. ( 27253831 )
2016
10
CORRELATION BETWEEN MACULAR CHANGES IN EXFOLIATION SYNDROME AND EXFOLIATIVE GLAUCOMA. ( 27333723 )
2016
11
The Clinical Spectrum and a New Theory of Pathogenesis of True Exfoliation Syndrome. ( 27596291 )
2016
12
Intraocular Pressure Characteristics of Exfoliative Glaucoma and Exfoliation Syndrome as Determined With the Water Drinking Test. ( 25642816 )
2015
13
The Relationship Between Choroidal Expansion and Intraocular Pressure Rise During the Water Drinking Test in Healthy Subjects and Patients With Exfoliation Syndrome. ( 26035419 )
2015
14
The association of LOXL1 polymorphisms with exfoliation syndrome/glaucoma: Meta-analysis. ( 25709925 )
2015
15
Exfoliation syndrome: assembling the puzzle pieces. ( 26648185 )
2015
16
Corrigendum: a common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. ( 26018902 )
2015
17
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. ( 25706626 )
2015
18
Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus. ( 26307087 )
2015
19
Clinical Signs and Characteristics of Exfoliation Syndrome and Exfoliative Glaucoma in Northern China. ( 26065350 )
2015
20
The prevalence of exfoliation syndrome in Turkey. ( 26508674 )
2015
21
Exfoliation syndrome: a disease with an environmental component. ( 25594763 )
2015
22
Evaluation of Optical Low Coherence Reflectometry Parameters in Patients with Exfoliation Syndrome. ( 26060577 )
2015
23
Hearing in older adults with exfoliation syndrome/exfoliation glaucoma or primary open-angle glaucoma. ( 26547142 )
2015
24
Exfoliation Syndrome and Solar Exposure: New Epidemiological Insights Into the Pathophysiology of the Disease. ( 26322422 )
2015
25
Investigation of phacoemulsification on exfoliation syndrome combined cataract with different nuclear hardness. ( 25684159 )
2015
26
Association of clusterin (CLU) variants and exfoliation syndrome: An analysis in two Caucasian studies and a meta-analysis. ( 26272660 )
2015
27
Disturbed oxidant/antioxidant balance in aqueous humour of patients with exfoliation syndrome. ( 24859894 )
2014
28
Systemic diseases associated with exfoliation syndrome. ( 25171641 )
2014
29
LOXL1 Gene Polymorphism With Exfoliation Syndrome/Exfoliation Glaucoma: A Meta-Analysis. ( 25304275 )
2014
30
Prospects for gene-environment interactions in exfoliation syndrome. ( 25275911 )
2014
31
Exfoliation syndrome in sub-Saharan Africa. ( 24844849 )
2014
32
Glycomics, extracellular matrix, and anti-glycan antibodies in exfoliation syndrome. ( 25275900 )
2014
33
Clinical characteristics and surgical outcomes of phacoemulsification in true exfoliation syndrome. ( 24238944 )
2014
34
The frequency of exfoliation syndrome in the central anatolia region of Turkey. ( 25165574 )
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
In Vivo Confocal Microscopic Evaluation of Corneas in Patients With Exfoliation Syndrome. ( 25203662 )
2014
38
Genetics of exfoliation syndrome and glaucoma. ( 25171643 )
2014
39
Solar Exposure and Residential Geographic History in Relation to Exfoliation Syndrome in the United States and Israel. ( 25188364 )
2014
40
Aqueous humour levels of ghrelin in exfoliation syndrome and exfoliation glaucoma patients. ( 24802745 )
2014
41
Oxidative stress in dry age-related macular degeneration and exfoliation syndrome. ( 25319011 )
2014
42
The effect of pharmacologic pupillary dilatation on anterior segment parameters in patients with exfoliation syndrome. ( 24646901 )
2014
43
Ocular and systemic manifestations of exfoliation syndrome. ( 25275896 )
2014
44
Expression and regulation of LOXL1 and elastin-related genes in eyes with exfoliation syndrome. ( 25275910 )
2014
45
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
46
Animal models of exfoliation syndrome, now and future. ( 25275912 )
2014
47
Expression and regulation of LOXL1 and elastin-related genes in eyes with exfoliation syndrome. ( 25275906 )
2014
48
Circumferential iris transillumination defects in exfoliation syndrome. ( 22525123 )
2013
49
Twelve-year Incidence of Exfoliation Syndrome in the Reykjavik Eye Study. ( 22268376 )
2013
50
Scanning laser polarimetry in eyes with exfoliation syndrome. ( 23483498 )
2013
Sources

Variations for Exfoliation Syndrome

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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
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:

id Super pathways Score Top Affiliating Genes
1
Degradation of the extracellular matrix 62
Show member pathways
 12.01 ELN FBN1 LOX LOXL1 MMP1
2
Elastic fibre formation 62
Show member pathways
 10.79 ELN FBN1 LOX LOXL1
3
Cell adhesion_Cell-matrix glycoconjugates 21
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:

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 aorta development GO:0035904 9.4 LOX LOXL1
6 reverse cholesterol transport GO:0043691 9.37 APOE CLU
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 beta-amyloid binding GO:0001540 9.16 APOE CLU
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

Sources for Exfoliation Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 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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