ERED
MCID: EPT021
MIFTS: 46

Epithelial Recurrent Erosion Dystrophy (ERED)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epithelial Recurrent Erosion Dystrophy

MalaCards integrated aliases for Epithelial Recurrent Erosion Dystrophy:

Name: Epithelial Recurrent Erosion Dystrophy 57 12 58 73 29 6 15 71
Ered 57 12 58 73
Corneal Erosions, Recurring Hereditary 57 73
Recurrent Hereditary Corneal Erosions 58
Recurrent Corneal Erosion Syndrome 73
Recurrent Erosion of Cornea 71
Dystrophia Helsinglandica 58
Dystrophia Smolandiensis 58
Col17a1 12
Rces 73

Characteristics:

Orphanet epidemiological data:

58
epithelial recurrent erosion dystrophy
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset of symptoms in childhood
decrease in frequency and severity of episodes in young adulthood
dryness and impaired vision in older adults
variable phenotypic expression within same individual in each eye (in some patients)


HPO:

31
epithelial recurrent erosion dystrophy:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0070337
OMIM® 57 122400
MeSH 44 D003317
ICD10 via Orphanet 33 H18.5
UMLS via Orphanet 72 C1852551
Orphanet 58 ORPHA293381
MedGen 41 C1852551
UMLS 71 C0155119 C1852551

Summaries for Epithelial Recurrent Erosion Dystrophy

OMIM® : 57 Epithelial recurrent erosion dystrophy is characterized by frequent painful recurrent corneal erosions, with onset in the first decade of life and subsequent gradual decrease in frequency, with cessation in the third or fourth decade. Small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity, in the Bowman layer and immediately subjacent anterior stroma, varying from 0.2 to 1.5 mm in diameter, appear to be clinically diagnostic of ERED (Oliver et al., 2016). (122400) (Updated 05-Mar-2021)

MalaCards based summary : Epithelial Recurrent Erosion Dystrophy, also known as ered, is related to corneal degeneration and recurrent corneal erosion, and has symptoms including photophobia and pain. An important gene associated with Epithelial Recurrent Erosion Dystrophy is COL17A1 (Collagen Type XVII Alpha 1 Chain). The drugs Bisacodyl and Ursodeoxycholic acid have been mentioned in the context of this disorder. Affiliated tissues include breast, eye and colon, and related phenotypes are visual impairment and photophobia

Disease Ontology : 12 An epithelial and subepithelial dystrophy that is characterized by frequent painful recurrent corneal erosions, small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity.

UniProtKB/Swiss-Prot : 73 Epithelial recurrent erosion dystrophy: A corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood, with occasional impairment of vision. Most patients have attacks of redness, photophobia, epiphora, and ocular pain. Exposure to sunlight or draught, dust and smoke and lack of sleep can precipitate attacks.

Related Diseases for Epithelial Recurrent Erosion Dystrophy

Diseases related to Epithelial Recurrent Erosion Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 corneal degeneration 31.3 TGFBI COL17A1
2 recurrent corneal erosion 31.0 TGFBI DNMBP DNAJC9 COL17A1
3 epithelial and subepithelial dystrophy 31.0 TGFBI RCAN2 HAO1 COL17A1
4 epidermolysis bullosa, junctional, non-herlitz type 11.3
5 bullous pemphigoid 11.1
6 skin disease 11.1
7 linear iga disease 11.1
8 amelogenesis imperfecta 11.1
9 autoimmune disease 11.0
10 cicatricial pemphigoid 11.0
11 pemphigoid gestationis 11.0
12 basal cell carcinoma 11.0
13 epidermolysis bullosa simplex 11.0
14 bullous skin disease 11.0
15 lichen planus 11.0
16 pemphigoid 11.0
17 kindler syndrome 10.9
18 melanoma 10.9
19 epidermolysis bullosa acquisita 10.9
20 herpes zoster 10.9
21 pemphigus 10.9
22 epidermolysis bullosa, junctional, herlitz type 10.8
23 epidermolysis bullosa simplex, generalized 10.8
24 pemphigus vulgaris, familial 10.8
25 epidermolysis bullosa simplex with muscular dystrophy 10.8
26 epidermolysis bullosa junctionalis with pyloric atresia 10.8
27 pyloric atresia 10.8
28 cardiomyopathy, infantile histiocytoid 10.8
29 autoimmune disease of musculoskeletal system 10.8
30 autoimmune disease of skin and connective tissue 10.8
31 paraneoplastic pemphigus 10.8
32 tooth disease 10.8
33 acute laryngopharyngitis 10.8
34 vulvar dystrophy 10.8
35 integumentary system disease 10.8
36 constipation 10.8
37 epidermolysis bullosa dystrophica 10.8
38 penis squamous cell carcinoma 10.8
39 mite infestation 10.8
40 subcorneal pustular dermatosis 10.8
41 lichen disease 10.8
42 neurotic excoriation 10.8
43 pompholyx 10.8
44 lichen planus pemphigoides 10.8
45 keratitis, hereditary 10.3
46 alopecia 10.3
47 corneal dystrophy 10.2
48 keloid formation 10.2
49 keloid disorder 10.2
50 astigmatism 10.1

Graphical network of the top 20 diseases related to Epithelial Recurrent Erosion Dystrophy:



Diseases related to Epithelial Recurrent Erosion Dystrophy

Symptoms & Phenotypes for Epithelial Recurrent Erosion Dystrophy

Human phenotypes related to Epithelial Recurrent Erosion Dystrophy:

31
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 photophobia 31 HP:0000613
3 corneal erosion 31 HP:0200020
4 pain 31 HP:0012531
5 epiphora 31 HP:0009926

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
photophobia
pain
epiphora
corneal erosions
unstable refraction (in older patients)
more

Clinical features from OMIM®:

122400 (Updated 05-Mar-2021)

UMLS symptoms related to Epithelial Recurrent Erosion Dystrophy:


photophobia, pain

Drugs & Therapeutics for Epithelial Recurrent Erosion Dystrophy

Drugs for Epithelial Recurrent Erosion Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 535)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bisacodyl Approved Phase 4 603-50-9
2
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
3
Ezetimibe Approved Phase 4 163222-33-1 150311
4
Simvastatin Approved Phase 4 79902-63-9 54454
5
Amlodipine Approved Phase 4 88150-42-9 2162
6
Metoprolol Approved, Investigational Phase 4 51384-51-1, 37350-58-6 4171
7
Fesoterodine Approved Phase 4 286930-03-8, 286930-02-7 6918558
8
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
9
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
10
Tamsulosin Approved, Investigational Phase 4 106133-20-4 129211
11
4-Aminopyridine Approved Phase 4 504-24-5 1727
12
Calcium polycarbophil Approved Phase 4 126040-58-2
13
Dutasteride Approved, Investigational Phase 4 164656-23-9 152945 6918296
14
Oxybutynin Approved, Investigational Phase 4 5633-20-5 4634
15
Darifenacin Approved, Investigational Phase 4 133099-04-4 444031
16
Fenofibrate Approved Phase 4 49562-28-9 3339
17
Clozapine Approved Phase 4 5786-21-0 2818
18
Insulin aspart Approved Phase 4 116094-23-6 16132418
19
Insulin detemir Approved Phase 4 169148-63-4 5311023
20
Lorazepam Approved Phase 4 846-49-1 3958
21
Tibolone Approved, Investigational Phase 4 5630-53-5
22
Drospirenone Approved Phase 4 67392-87-4 68873
23
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
24
Nimodipine Approved, Investigational Phase 4 66085-59-4 4497
25
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
26
Nifedipine Approved Phase 4 21829-25-4 4485
27
Labetalol Approved Phase 4 36894-69-6 3869
28
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
29
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
30
Liraglutide Approved Phase 4 204656-20-2 44147092
31
Acetaminophen Approved Phase 4 103-90-2 1983
32
Ketoprofen Approved, Vet_approved Phase 4 22071-15-4 3825
33
Oxymorphone Approved, Investigational, Vet_approved Phase 4 76-41-5 5284604
34
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
35
Donepezil Approved Phase 4 120014-06-4 3152
36
Galantamine Approved Phase 4 357-70-0 9651
37
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
38
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
39
Bupropion Approved Phase 4 34911-55-2, 34841-39-9 444
40
Amantadine Approved Phase 4 768-94-5 2130
41
Ranolazine Approved, Investigational Phase 4 95635-55-5, 142387-99-3 56959
42
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
43
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
44
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
45
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585 135398745
46
Zoledronic Acid Approved Phase 4 118072-93-8 68740
47
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
48
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
49
Rosemary Experimental Phase 4
50 Fallypride Investigational Phase 4 166173-78-0

Interventional clinical trials:

(show top 50) (show all 896)
# Name Status NCT ID Phase Drugs
1 A Double-Blind, Placebo-Controlled, Flexible-Dose Pilot Clinical Trial of Once-Daily Extended-Release Tramadol for the Treatment of PTSD Unknown status NCT01517711 Phase 4 Tramadol;Placebo
2 Evaluation of Adjuvant Endocrine Therapy for Operable ER-beta Positive, ER-alpha/PR Negative, Her-2 Negative Breast Cancer Patients Unknown status NCT02089854 Phase 4 Toremifene; Anastrozole
3 An Open-label, Randomized, Multi-center, Crossover Study to Observe the Effect of Once-daily Mirapex ER® and Twice-daily Mirapex ER® in Patients With Parkinson Disease Unknown status NCT01515774 Phase 4 Mirapex ER
4 Comparison of Two Types of Bowel Preparation for Inpatient Colonoscopy Unknown status NCT02119000 Phase 4 PEG/electrolytes 2L/2L split dose;Bisacodyl 15 mg and PEG/electrolytes 1L/1L split dose
5 Effect of Ursodeoxycholic Acid on Peritoneal Function in Patients on Peritoneal Dialysis Unknown status NCT02338635 Phase 4 Ursodeoxycholic Acid
6 A Study on the Efficacy, Pharmacokinetics and Adverse Effects of Paliperidone ER Unknown status NCT02433717 Phase 4 Paliperidone ER
7 National Screening i Danmark Med MR-scanning af Brystet Kontra Klinisk Mammografi Hos Kvinder Der er bærere af Risikogivende BRCA1 Eller BRCA2 Mutationer Unknown status NCT00413491 Phase 4
8 An Eight Week, Double-Blind Efficacy Study of Cyclobenzaprine ER (Amrix TM) Augmentation to Alleviate Fibromyalgia Fatigue and Muscle Pain Unknown status NCT01041495 Phase 4 cyclobenzaprine ER (AMRIX);placebo
9 Treatment of Acute Asthma in ER With Combination of Systemic Steroids and Inhaled Steroids Unknown status NCT00397267 Phase 4 inhalation of corticosteroids
10 Conversion From Multiple-Daily Dose Enteric-Coated Depakote to Once-Daily Depakote ER in Elderly Outpatients With Epilepsy or Behavioral Disturbances: Unknown status NCT00312676 Phase 4
11 Accuracy of Magnetic Resonance Imaging (MRI) in Predicting Aggressiveness of Early Breast Cancer According to Molecular Subtypes Identified by ER PR and HER-2 Status Unknown status NCT01597999 Phase 4
12 Glycemic Effects of Nebivolol Compared With Metoprolol Extended Release and Compared With Hydrochlorothiazide In Hypertensive Patients With Type 2 Diabetes Mellitus: A Pilot Study Completed NCT00744237 Phase 4 Nebivolol;Metoprolol ER;HCTZ
13 A Single-arm Evaluation of the Safety of Paliperidone Extended-Release (ER) in Subjects With Schizophrenia or Schizoaffective Disorder With Hepatic Disease Completed NCT00535145 Phase 4 Treatment as usual (TAU), Paliperidone ER
14 A Randomized, Double Blind, Placebo Controlled, Four Arm (Placebo, Tolterodine ER, Tamsulosin, and Tolterodine ER Plus Tamsulosin) Study To Evaluate The Clinical Efficacy And Safety Of Tolterodine ER 4 mg In Men Who Have Frequency and Urgency, With Or Without Urinary Urge Incontinence, With Or Without Bladder Outlet Obstruction Completed NCT00147654 Phase 4 Tolterodine ER 4 mg QD;Tamsulosin 0.4 mg QD
15 An Open-label Prospective Trial to Explore the Tolerability, Safety and Efficacy of Flexibly Dosed Paliperidone ER in Subjects With Schizophrenia Completed NCT01724359 Phase 4 Paliperidone ER
16 Comparative Effect of Nebivolol vs. Metoprolol on Insulin Sensitivity and Fibrinolytic Balance in Metabolic Syndrome Completed NCT00775671 Phase 4 placebo;Nebivolol;Metoprolol
17 A Double Blind, Randomized Study to Compare Influence of Niacin/Laropiprant on Functional and Morphological Characteristics of Arterial Wall and Parameters of Inflammation in Subjects With Coronary Heart Disease Already Treated With a Statin Completed NCT01126073 Phase 4 Niacin/laropiprant;Placebo
18 A Prospective Randomized, Open-Label, Crossover Study on the Effects of Psyllium on Niacin Tolerability Completed NCT03370848 Phase 4 Aspirin
19 A Randomized, Double-blind, Placebo-controlled, Study of Safety and Efficacy of Dutasteride in Combination With Tolterodine ER or Placebo in Men With Lower Urinary Tract Symptoms (LUTS) Including Urgency and Frequency Completed NCT00939120 Phase 4 Tolterodine ER 4mg;Placebo;Pre-randomization Dutasteride
20 An Acute and Continuation Phase Study of the Comparative Efficacy Study of Venlafaxine ER (Effexor® XR) and Fluoxetine (Prozac®) in Achieving and Sustaining Remission (Wellness) in Patients With Recurrent Unipolar Major Depression; Followed by a Long Term Randomized, Placebo-Controlled Maintenance Treatment Study in Patients Treated Initially With Venlafaxine ER Completed NCT00046020 Phase 4 Venlafaxine ER
21 A Randomized, Double-Blind, Placebo-Controlled, Three Arm Study To Evaluate The Effects Of Tolterodine ER 4 mg Vs. Placebo Vs. Oxybutynin ER On Memory And Other Cognitive Abilities In Elderly Subjects Completed NCT00411437 Phase 4 Tolterodine ER;Oxybutynin ER
22 Efficacy and Tolerability of Flexible Doses of Paliperidone ER in Symptomatic Subjects With Schizophrenia With Duration of Illness < 10 Years Completed NCT01362439 Phase 4 Paliperidone ER
23 Different Safety Profile of Risperidone and Paliperidone Extended-release: a Double-blind, Placebo-controlled Trial With Healthy Volunteers Completed NCT01284959 Phase 4 risperidone;paliperidone ER;placebo
24 A 3-Way Cross-Over, Randomized, Placebo-Controlled, Double-Blind, Multicenter Study to Assess the Pharmacologic Effects of a 7-Day Exposure to Darifenacin 15 mg o.d. and Tolterodine ER 4 mg o.d on Cardiovascular Parameters in Healthy Subjects 50 Years of Age and Older Completed NCT00413790 Phase 4 Darifenacin;Tolterodine;Placebo
25 An Open Label, Prospective, Non-comparative Study to Evaluate Flexible Dose of Paliperidone Extended-Release and Clinical Response in the Treatment of Subjects With Schizophrenia Completed NCT00761189 Phase 4 Paliperidone
26 An Open-label, PRospective Study to Evaluate Social Function and Overall Improvement of Paliperidone ER Treatment in Thai Schizophrenia PatieNT (PRESENT) Completed NCT01387542 Phase 4 Paliperidone extended release (ER)
27 Augmentation of Clozapine With Paliperidone in the Treatment of Resistant Schizophrenia Randomized Controlled Study Completed NCT01279213 Phase 4 paliperidone clozapine
28 Management of Hyperglycemia in the Emergency Room: A Randomized Clinical Trial of a Subcutaneous Insulin Aspart Protocol Coupled With Rapid Initiation of Basal Bolus Insulin Prior to Hospital Admission Versus Usual Care Completed NCT00591227 Phase 4 insulins aspart and detemir
29 Early Prediction of Clinical Response, Metabolic Change, and Pharmacokinetics in Taiwanese Patients With Schizophrenia Patients Treated by Paliperidone ER: an Open-Label Study Completed NCT02075528 Phase 4 Paliperidone ER
30 Efficacy of Early Intensive ROsuvastatin Therapy in Patients With ST-segment Elevation Myocardial Infarction Undergoing PrimARY Percutaneous Coronary Intervention (the ROSEMARY Trial) Completed NCT01153334 Phase 4 Early intensive rosuvastatin therapy (40 mg for 7days, starting in ER prior to primary PCI)
31 Depakote ER in Bipolar Depression Completed NCT00186186 Phase 4 Depakote ER
32 Open-label, Single Arm, Interventional Study to Explore the Efficacy and Safety of Paliperidone ER in the Management of Patients With Acute Agitation and/or Aggression Completed NCT01050478 Phase 4 Paliperidone ER;Benzodiazepine
33 A Study to Evaluate Switching From Risperidone to Paliperidone ER (Extended Release) in the Treatment of Stable But Symptomatic Schizophrenia Outpatients: Patients Satisfaction and Quality of Life Completed NCT01010776 Phase 4 Paliperidone Extended Release (ER)
34 A Randomized Controlled Double-blind Cross-over Trial of Dalfampridine ER for Effect on Ambulatory Activity in People With Multiple Sclerosis Completed NCT01356940 Phase 4 dalfampridine ER;placebo
35 An Open-label Prospective Trial to Evaluate the Tolerability, Safety and Maintained Efficacy of a Transition to Paliperidone ER in Subjects With Schizophrenia Previously Unsuccessfully Treated With Other Oral Antipsychotics Completed NCT00757705 Phase 4 Paliperidone ER
36 The Efficacy and Safety of Galantamine for Dysfunction in Bipolar Disorder Completed NCT00741598 Phase 4 Galantamine-ER;Galantamine placebo
37 Symptom Specific Effectiveness of Tolterodine ER 4 mg in Patients With Symptoms of Overactive Bladder (OAB) in a Primary Care Setting. A Phase IV, Open-label, Single-arm, Non-randomized, Trial in Adult Patients With OAB. Completed NCT00645281 Phase 4 tolterodine extended release
38 Comparative Effects of Drospirenone and Tibolone on the Postmenopausal Endometrium Completed NCT02384408 Phase 4
39 An Open-label, Single-arm, Multicenter, Phase IV Study to Evaluate the Response to Treatment and Safety of Flexible Dose Treatment With Extended-release Paliperidone in Patients With Schizophrenia Completed NCT00915512 Phase 4 Paliperidone extended-release (ER)
40 Assessment of Patient-reported Goal Attainment in the Treatment of Female Overactive Bladder (Phase Ⅳ) Completed NCT00836381 Phase 4 Tolterodine extended-release (ER) 4mg;Placebo
41 A Multicenter, Randomized, Double-blind, Placebo-Controlled, Relapse-Prevention Study With Levomilnacipran ER in Patients With Major Depressive Disorder Completed NCT02288325 Phase 4 Levomilnacipran ER;Placebo
42 Paliperidone ER Versus Risperidone for Neurocognitive Function in Patients With Schizophrenia: a Randomized, Open-label, Controlled Trial Completed NCT00827840 Phase 4 Paliperidone ER;Risperidone
43 An Open-label, Prospective, Non-Comparative Study to Evaluate Subjective Well-Being and Responses in Patients With Schizophrenia Who Had Switched to Paliperidone Extended-Release Tablets Completed NCT00784238 Phase 4 Paliperidone
44 Symptomatic Remission and Social Function in Patients Treated With Paliperidone ER Completed NCT01577186 Phase 4 Paliperidone ER
45 An Open Label, Prospective, Non-Comparative Study to Evaluate Flexible Dose of Paliperidone ER and Clinical Response in the Treatment of Subjects With Schizophrenia Completed NCT01577160 Phase 4 Paliperidone ER
46 Efficacy and Safety of Paliperidone ER in Patients With First Episode Psychosis: an Open-label, Prospective Multi-center Study Completed NCT01157585 Phase 4 paliperidone ER
47 A Multicenter, Multiphase, Single Arm, Open Label Study To Evaluate The Effects Of Tolterodine ER In Conjunction With Behavioral Intervention On Subject Satisfaction And Over- Active Bladder Symptoms (Urgency Urinary Incontinence (UUI), Urgency, Frequency) In Overactive Bladder Subjects Who Were Dissatisfied With Their Most Recent Antimuscarinic OAB Medication Therapy. Completed NCT00230789 Phase 4 Tolterodine ER 4 mg QD
48 12- Week Open Label Treatment of Refractory Bipolar Depression (BD) With Combination of Depakote ER (DEP) and Aripiprazole (AZP) Completed NCT00223496 Phase 4 Aripiprazole
49 Divalproex ER vs. Risperidone for Bipolar Disorder With Comorbid Substance Use Disorder Completed NCT00203528 Phase 4 divalproex sodium ER;risperidone
50 A Multi-centre, Randomised, Placebo Controlled, Double Blind, Parallel Group Study in Female Patients to Evaluate Whether Tolterodine ER Can Reverse the Increased Bladder Wall Thickness in Patients With Overactive Bladder. Completed NCT00137397 Phase 4 Tolterodine ER;Placebo

Search NIH Clinical Center for Epithelial Recurrent Erosion Dystrophy

Genetic Tests for Epithelial Recurrent Erosion Dystrophy

Genetic tests related to Epithelial Recurrent Erosion Dystrophy:

# Genetic test Affiliating Genes
1 Epithelial Recurrent Erosion Dystrophy 29 COL17A1

Anatomical Context for Epithelial Recurrent Erosion Dystrophy

MalaCards organs/tissues related to Epithelial Recurrent Erosion Dystrophy:

40
Breast, Eye, Colon, Ovary, Kidney, Bone, Lymph Node

Publications for Epithelial Recurrent Erosion Dystrophy

Articles related to Epithelial Recurrent Erosion Dystrophy:

(show top 50) (show all 78)
# Title Authors PMID Year
1
A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions. 61 57 6
26786512 2016
2
Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED). 61 6 57
25676728 2015
3
Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy. 57 6
19710953 2009
4
Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2) on chromosome 10q23-q25. 6 57
14562173 2003
5
Reis-Bücklers' corneal dystrophy. Immunofluorescent and electron microscopic studies. 6 57
2663347 1989
6
Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24. 6 61
27309958 2016
7
Individual phenotypic variances in a family with Thiel-Behnke corneal dystrophy. 57
22965308 2012
8
Linkage mapping of Thiel-Behnke corneal dystrophy (CDB2) to chromosome 10q23-q24. 57
9403072 1997
9
Hereditary recurring corneal erosions. A familial study with special reference to Fuchs' dystrophy. 57
5300718 1967
10
A family history of corneal erosions. 57
13380984 1955
11
Phage display-based vaccine with cathepsin L and excretory-secretory products mimotopes of Fasciola hepatica induces protective cellular and humoral immune responses in sheep. 61
33373968 2021
12
Catenin alpha 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/beta-catenin signaling. 61
33497368 2021
13
Cardioprotective effects of natural products via the Nrf2 signaling path-way. 61
33155913 2020
14
Enantioselective Enzymatic Reduction of Acrylic Acids. 61
33048553 2020
15
Emergency department patients' perceptions of the efficacy and safety of opioid analgesics. 61
32885831 2020
16
Analysis of the reciprocal changes in upper cervical profile and the risk factors for increasing cervical sagittal vertical axis after laminoplasty for ossification of the posterior longitudinal ligament of the cervical spine. 61
32222651 2020
17
[Spatiotemporal distribution of Oncomelania hupensis snail habitats in Anhui Province]. 61
32458602 2020
18
[Diabetic foot attack. Pathophysiological description, clinical presentation, treatment and outcomes]. 61
33048798 2020
19
One-Pot Biocatalytic Cascade Reduction of Cyclic Enimines for the Preparation of Diastereomerically Enriched N-Heterocycles. 61
31743008 2019
20
The Effect of Time to Castration Resistance on Overall Survival and Success of Docetaxel Treatment in Castration Resistant Prostate Cancer Patients. 61
30636274 2019
21
Clinical and genetic update of corneal dystrophies. 61
31301286 2019
22
Sufficient and necessary conditions for global attractivity and stability of a class of discrete Hopfield-type neural networks with time delays. 61
31499698 2019
23
[Epithelial Dystrophies of the Cornea]. 61
30776844 2019
24
Comparison of heavy metals, parasites and histopathology in sculpins (Myoxocephalus spp.) from two sites at a lead-zinc mine in North East Greenland. 61
29777921 2018
25
Survival of Kidney Retransplant Compared With First Kidney Transplant: A Report From Southern Iran. 61
27855590 2018
26
Epithelial Recurrent Erosion Dystrophy Secondary to COL17A1 c.3156C>T Mutation in a Non-white Family. 61
29708937 2018
27
[Recurrent Corneal Erosions in Epithelial Corneal Dystrophies]. 61
29895083 2018
28
Pregnancy and Ovarian Stimulation in the Patients with Breast Cancer. 61
30541317 2018
29
Does Home Birth Reduce the Risk of Pelvic Organ Prolapse? 61
30215462 2018
30
The concordance between endoscopic and histological diagnosis in 114 dogs affected by gastric disease. 61
29307125 2017
31
Evaluation of a halitosis clinic over a period of eleven years 61
29199412 2017
32
ALTRE: workflow for defining ALTered Regulatory Elements using chromatin accessibility data. 61
28011773 2017
33
Knowledge on cardiovascular risk factors improves the effectiveness of rehabilitation following acute coronary syndrome. 61
28150283 2017
34
Fusion proteins of an enoate reductase and a Baeyer-Villiger monooxygenase facilitate the synthesis of chiral lactones. 61
27289001 2017
35
Asthma in the elderly. 61
30551279 2016
36
Synthetic Tuning of Redox, Spectroscopic, and Photophysical Properties of {Mo6I8}(4+) Core Cluster Complexes by Terminal Carboxylate Ligands. 61
27505303 2016
37
[A Case of Anaphylactic Shock Immediately after Administration of Sugammadex]. 61
30358329 2016
38
Palmoplantar Dermatoses- A Clinical Study of 300 Cases. 61
27656539 2016
39
Aluminium ion-promoted radical-scavenging reaction of methylated hydroquinone derivatives. 61
27492849 2016
40
Analysis of Service-learning activities adopted in health courses of Federal University of Bahia. 61
27384271 2016
41
[Chemoradiotherapy in combination with local hyperthermia for patients with non-small cell lung cancer]. 61
30695572 2016
42
[СOMPARISON OF LAPAROSCOPIC CRURORAPHY AND PLASTY, USING LIGHTWEIGHT NET TRANSPLANT IN LARGE HIATAL HERNIAS: REMOTE RESULTS OF PROSPECTIVE RANDOMIZED INVESTIGATION]. 61
30265463 2016
43
Highly Soluble Benzo[ghi]perylenetriimide Derivatives: Stable and Air-Insensitive Electron Acceptors for Artificial Photosynthesis. 61
26395847 2015
44
Laparoscopic Management of Heterotopic Interstitial Pregnancy with Subsequent Term Delivery. 61
26246887 2015
45
[Diagnosing and therapy of gout]. 61
26258966 2015
46
Strong Inhibition of O-Atom Transfer Reactivity for Mn(IV)(O)(π-Radical-Cation)(Lewis Acid) versus Mn(V)(O) Porphyrinoid Complexes. 61
25964988 2015
47
Electron-deficient heteroarenium salts: an organocatalytic tool for activation of hydrogen peroxide in oxidations. 61
25658679 2015
48
Statin Effects on Aggression: Results from the UCSD Statin Study, a Randomized Control Trial. 61
26132393 2015
49
ErmF and ereD are responsible for erythromycin resistance in Riemerella anatipestifer. 61
26107936 2015
50
Surface imaging-based analysis of intrafraction motion for breast radiotherapy patients. 61
25493520 2014

Variations for Epithelial Recurrent Erosion Dystrophy

ClinVar genetic disease variations for Epithelial Recurrent Erosion Dystrophy:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL17A1 NM_000494.4(COL17A1):c.2062C>T (p.Arg688Ter) SNV Pathogenic 931123 10:105810636-105810636 10:104050878-104050878
2 COL17A1 NM_000494.4(COL17A1):c.460C>T (p.Arg154Ter) SNV Pathogenic 931124 10:105831793-105831793 10:104072035-104072035
3 COL17A1 NM_000494.4(COL17A1):c.3156C>T (p.Gly1052=) SNV Pathogenic 208978 rs760714959 10:105797446-105797446 10:104037688-104037688
4 COL17A1 NM_000494.4(COL17A1):c.2816C>T (p.Thr939Ile) SNV Pathogenic 208977 rs797045142 10:105799371-105799371 10:104039613-104039613
5 COL17A1 NM_000494.4(COL17A1):c.4142C>T (p.Ser1381Leu) SNV Uncertain significance 931121 10:105793717-105793717 10:104033959-104033959
6 COL17A1 NM_000494.4(COL17A1):c.3071-5G>A SNV Uncertain significance 931122 10:105797536-105797536 10:104037778-104037778

UniProtKB/Swiss-Prot genetic disease variations for Epithelial Recurrent Erosion Dystrophy:

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# Symbol AA change Variation ID SNP ID
1 COL17A1 p.Thr939Ile VAR_074627 rs797045142

Expression for Epithelial Recurrent Erosion Dystrophy

Search GEO for disease gene expression data for Epithelial Recurrent Erosion Dystrophy.

Pathways for Epithelial Recurrent Erosion Dystrophy

GO Terms for Epithelial Recurrent Erosion Dystrophy

Sources for Epithelial Recurrent Erosion Dystrophy

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