ERED
MCID: EPT021
MIFTS: 42

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 56 12 58 73 29 6 15 71
Ered 56 12 58 73
Corneal Erosions, Recurring Hereditary 56 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:

56
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 56 122400
MeSH 43 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 : 56 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)

MalaCards based summary : Epithelial Recurrent Erosion Dystrophy, also known as ered, is related to recurrent corneal erosion and epithelial and subepithelial dystrophy, 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 Anesthetics, General and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and liver, 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 1132)
# Related Disease Score Top Affiliating Genes
1 recurrent corneal erosion 31.5 TGFBI DNAJC9 COL17A1
2 epithelial and subepithelial dystrophy 30.6 TP63 TGFBI TACSTD2 SPAG17 NAA35 HAO1
3 corneal disease 30.5 TGFBI TACSTD2 H2AC18
4 corneal dystrophy, thiel-behnke type 30.3 TGFBI TACSTD2
5 lattice corneal dystrophy 30.2 TGFBI TACSTD2 H2AC18
6 amelogenesis imperfecta 29.4 TP63 H2AC18 COL17A1
7 epidermolysis bullosa, junctional, non-herlitz type 12.2
8 amelogenesis imperfecta, type ig 11.9
9 linear iga disease 11.6
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 11.6
11 breast cancer 11.6
12 alzheimer disease 11.5
13 atherosclerosis susceptibility 11.4
14 idiopathic interstitial pneumonia 11.4
15 estrogen resistance 11.4
16 marinesco-sjogren syndrome 11.4
17 coronary heart disease 1 11.4
18 factor v and factor viii, combined deficiency of, 1 11.4
19 muscular dystrophy, congenital, lmna-related 11.4
20 amelogenesis imperfecta hypoplastic type, ig 11.4
21 epidermolysis bullosa, junctional, herlitz type 11.4
22 late-onset junctional epidermolysis bullosa 11.4
23 deafness, dystonia, and cerebral hypomyelination 11.3
24 congenital disorder of glycosylation, type ik 11.3
25 cicatricial pemphigoid 11.2
26 pemphigoid gestationis 11.2
27 epidermolysis bullosa simplex 11.2
28 bullous skin disease 11.2
29 kindler syndrome 11.2
30 epidermolysis bullosa acquisita 11.2
31 herpes zoster 11.2
32 epidermodysplasia verruciformis 1 11.1
33 cerebellar atrophy, visual impairment, and psychomotor retardation 11.1
34 peripheral vascular disease 11.1
35 luminal breast carcinoma a 11.1
36 luminal breast carcinoma b 11.1
37 epidermolysis bullosa simplex, generalized 11.0
38 pemphigus vulgaris, familial 11.0
39 nail disorder, nonsyndromic congenital, 4 11.0
40 epidermolysis bullosa simplex with muscular dystrophy 11.0
41 epidermolysis bullosa junctionalis with pyloric atresia 11.0
42 pyloric atresia 11.0
43 cardiomyopathy, infantile histiocytoid 11.0
44 autoimmune disease of musculoskeletal system 11.0
45 autoimmune disease of skin and connective tissue 11.0
46 acute laryngopharyngitis 11.0
47 integumentary system disease 11.0
48 vesiculobullous skin disease 11.0
49 epidermolysis bullosa dystrophica 11.0
50 mite infestation 11.0

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:

56
Head And Neck Eyes:
photophobia
pain
epiphora
corneal erosions
unstable refraction (in older patients)
more

Clinical features from OMIM:

122400

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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics, General Phase 1, Phase 2
2 Anesthetics Phase 1, Phase 2
3 Anti-Bacterial Agents Phase 1, Phase 2
4 Antibiotics, Antitubercular Phase 1, Phase 2
5 Anti-Inflammatory Agents Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective, Open-label, Uncontrolled Clinical Trial to Assess the Safety and Efficacy of Autologous Cultured Epidermal Grafts Containing Epidermal Stem Cells Genetically Modified With a Gamma-retroviral (rv) Vector Carrying COL17A1 cDNA for Restoration of Epidermis in Patients With Junctional Epidermolysis Bullosa Recruiting NCT03490331 Phase 1, Phase 2
2 Metalloproteinases and Recurrent Corneal Erosion Syndrome Recruiting NCT02891694

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
Eye, Kidney, Liver, Breast, Lung, Prostate

Publications for Epithelial Recurrent Erosion Dystrophy

Articles related to Epithelial Recurrent Erosion Dystrophy:

(show top 50) (show all 72)
# Title Authors PMID Year
1
A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions. 61 6 56
26786512 2016
2
Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED). 6 56 61
25676728 2015
3
Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy. 6 56
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 56
14562173 2003
5
Reis-Bücklers' corneal dystrophy. Immunofluorescent and electron microscopic studies. 56 6
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. 56
22965308 2012
8
Linkage mapping of Thiel-Behnke corneal dystrophy (CDB2) to chromosome 10q23-q24. 56
9403072 1997
9
Hereditary recurring corneal erosions. A familial study with special reference to Fuchs' dystrophy. 56
5300718 1967
10
A family history of corneal erosions. 56
13380984 1955
11
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
12
[Spatiotemporal distribution of Oncomelania hupensis snail habitats in Anhui Province]. 61
32458602 2020
13
One-Pot Biocatalytic Cascade Reduction of Cyclic Enimines for the Preparation of Diastereomerically Enriched N-Heterocycles. 61
31743008 2019
14
The Effect of Time to Castration Resistance on Overall Survival and Success of Docetaxel Treatment in Castration Resistant Prostate Cancer Patients. 61
30636274 2019
15
Clinical and genetic update of corneal dystrophies. 61
31301286 2019
16
Sufficient and necessary conditions for global attractivity and stability of a class of discrete Hopfield-type neural networks with time delays. 61
31499698 2019
17
[Epithelial Dystrophies of the Cornea]. 61
30776844 2019
18
Survival of Kidney Retransplant Compared With First Kidney Transplant: A Report From Southern Iran. 61
27855590 2018
19
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
20
Epithelial Recurrent Erosion Dystrophy Secondary to COL17A1 c.3156C>T Mutation in a Non-white Family. 61
29708937 2018
21
[Recurrent Corneal Erosions in Epithelial Corneal Dystrophies]. 61
29895083 2018
22
Pregnancy and Ovarian Stimulation in the Patients with Breast Cancer. 61
30541317 2018
23
Does Home Birth Reduce the Risk of Pelvic Organ Prolapse? 61
30215462 2018
24
The concordance between endoscopic and histological diagnosis in 114 dogs affected by gastric disease. 61
29307125 2017
25
Evaluation of a halitosis clinic over a period of eleven years 61
29199412 2017
26
ALTRE: workflow for defining ALTered Regulatory Elements using chromatin accessibility data. 61
28011773 2017
27
Fusion proteins of an enoate reductase and a Baeyer-Villiger monooxygenase facilitate the synthesis of chiral lactones. 61
27289001 2017
28
Knowledge on cardiovascular risk factors improves the effectiveness of rehabilitation following acute coronary syndrome. 61
28150283 2017
29
Asthma in the elderly. 61
30551279 2016
30
Synthetic Tuning of Redox, Spectroscopic, and Photophysical Properties of {Mo6I8}(4+) Core Cluster Complexes by Terminal Carboxylate Ligands. 61
27505303 2016
31
[A Case of Anaphylactic Shock Immediately after Administration of Sugammadex]. 61
30358329 2016
32
Aluminium ion-promoted radical-scavenging reaction of methylated hydroquinone derivatives. 61
27492849 2016
33
Palmoplantar Dermatoses- A Clinical Study of 300 Cases. 61
27656539 2016
34
Analysis of Service-learning activities adopted in health courses of Federal University of Bahia. 61
27384271 2016
35
[Chemoradiotherapy in combination with local hyperthermia for patients with non-small cell lung cancer]. 61
30695572 2016
36
[СOMPARISON OF LAPAROSCOPIC CRURORAPHY AND PLASTY, USING LIGHTWEIGHT NET TRANSPLANT IN LARGE HIATAL HERNIAS: REMOTE RESULTS OF PROSPECTIVE RANDOMIZED INVESTIGATION]. 61
30265463 2016
37
Highly Soluble Benzo[ghi]perylenetriimide Derivatives: Stable and Air-Insensitive Electron Acceptors for Artificial Photosynthesis. 61
26395847 2015
38
Laparoscopic Management of Heterotopic Interstitial Pregnancy with Subsequent Term Delivery. 61
26246887 2015
39
[Diagnosing and therapy of gout]. 61
26258966 2015
40
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
41
Electron-deficient heteroarenium salts: an organocatalytic tool for activation of hydrogen peroxide in oxidations. 61
25658679 2015
42
Statin Effects on Aggression: Results from the UCSD Statin Study, a Randomized Control Trial. 61
26132393 2015
43
ErmF and ereD are responsible for erythromycin resistance in Riemerella anatipestifer. 61
26107936 2015
44
Surface imaging-based analysis of intrafraction motion for breast radiotherapy patients. 61
25493520 2014
45
Controlled amino-functionalization by electrochemical reduction of bromo and nitro azobenzene layers bound to Si(111) surfaces. 61
25100049 2014
46
An intensive medical education elective for senior medical students. 61
24983021 2014
47
Structure-property relationships based on Hammett constants in cyclometalated iridium(III) complexes: their application to the design of a fluorine-free FIrPic-like emitter. 61
24345847 2014
48
Enzymatic conversion of flavonoids using bacterial chalcone isomerase and enoate reductase. 61
24459060 2014
49
A Comparative Study on Physical Vulnerability of Urban Area against Natural Hazards: Importance of Health Promoting Approach in Civil Engineering. 61
25097846 2014
50
SV40-transformed human corneal keratocytes: optimisation of serum-free culture conditions. 61
19326031 2009

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.2816C>T (p.Thr939Ile)SNV Pathogenic 208977 rs797045142 10:105799371-105799371 10:104039613-104039613
2 COL17A1 NM_000494.4(COL17A1):c.3156C>T (p.Gly1052=)SNV Pathogenic 208978 rs760714959 10:105797446-105797446 10:104037688-104037688

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

73
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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